BASIC PATIENT INFORMATION AND NOTES

Johns Hopkins Guide for Patients and Families

Excellent step by step guide which explains Lynch syndrome, diagnostic testing and the management of the disorder.  Written in a very information, yet user friendly manner, this should be referred to all individuals who have Lynch syndrome.

Basic Explanation of the Lynch Syndrome Gene Mutation, in excellent user friendly detail, from Lahey Clinic in Burlington, Massachusetts.

Genetic Discrimination Fact Sheet

Understanding Hereditary Cancer (Courtesy of MD Anderson Cancer Center)

Am I At Risk for Hereditary Cancer? (Courtesy of MD Anderson Cancer Center)

Modified 9/27/2012

Glossary

Adenoma- A benign polyp that may be pre cancerous.

AmsterdamCriteria:  Guidelines to determine who should be referred for Lynch syndrome genetic testing.

Anus- Outlet of the rectum.

At risk- A person at risk has the possibility of having Lynch syndrome due to family history, however has not been tested.

Autosomal dominant- A pattern of inheritance in which an affected individual has one copy of a mutant gene and one normal gene on a pair of chromosomes.  Individuals with autosomal dominant diseases have a 50-50 chance of passing the mutant gene and therefore the disorder onto each of their children.

Barium enema- Chalky liquid, resistant to x-rays, inserted into the large intestine which allows the operator to view the interior of the bowel and detect anything unusual.

Base Pair - two nucleotides on opposite complementary DNA or RNA strands which  are connected via hydrogen bonds (the center matter connecting each strand of a double helix together into one strand.)

Benign- Not cancerous

BethesdaCriteria:  Guidelines to determine who should submit to Lynch syndrome genetic testing and MSI testing.

Biopsy- Removal of tissue for examination under a microscope.

CA-125 - A blood test that assesses the concentration of CA-125, an antigen found in ovarian cancer.

CAT scan- (Computerized Axial Tomography) - a form of x-ray that shows the size and shape of body organs layer by layer.

Cecum- The first section of the large intestine (colon).

Chemotherapy Neuropathy - nerve damage primarily in the hands, feet, arms and legs, resulting from chemotherapy.

Chromosome- Contains the genetic material of a cell (genes). The normal number of chromosomes in a human cell is 46 (23 pairs).

CIPN:Chemotherapy Induced Peripheral Neuropathy  (See Chemotherapy Neuropathy)

Colectomy- The surgical removal of the colon (large intestine).
Colon - (Large intestine, large bowel), About five to six feet long, it comprises the last section of the colon and includes the cecum, ascending colon, transverse colon, descending colon and sigmoid colon.

Colonoscopy-  Also known as "scope," it is an examination of the inside of the entire colon by use of a  flexible tube, about five feet in length.  The tube has a light source, a magnifying eye glass and an open channel through which air can be passed and biopsies can be taken.

DNA- (Deoxyribonucleic Acid). The molecule that contains the code for the genetic blueprint. It is found in the nucleus of cells.
Duodenum - The first part of the small intestine, about twelve to fifteen inches long.

Endometrial Aspirate - Extraction of tissue from the uterine lining, by suction, for examination.

Endometrium- The mucousy membrane composing the inner layer of the uterine wall.

Esophagogastroduodenoscopy (EGD, Upper Endoscopy)- Examination by use of a flexible tube passed through the interior of the upper GI tract (esophagus, stomach, and duodenum). The tube has a light source, a magnifying eye glass, and an open channel through which a biopsy can be taken.

ET- Enterostomal Therapist; a specialist, often a nurse, who assists individuals who wear an external abdominal appliance to collect body waste.

Familial Cancer -   Cancer that occurs in families more often than would be expected by chance. These cancers often occur at an early age, and may indicate the presence of a gene mutation that increases the risk of cancer. They may also be a sign of shared environmental or lifestyle factors.

FAP (Familial adenomatous polyposis)- An inherited disorder of the gastrointestinal tract in which there are 100 or more pre cancerous polyps.

Flexible sigmoidoscopy- A test in which a flexible tube about 2 1/2 feet in length is used to examine the rectum and lower part of the large bowel. The tube has a light source, a magnifying eyepiece, and an open channel through which air can be passed and a biopsy taken.

FOBT Test: Fecal Occult Blood Test is a non-invasive "at home" test, used to detect hidden blood in the stool and often utilized for colon cancer screening.

Gastroenterologist - A physician who specializes in the gastrointestinal tract.

GI (gastrointestinal) tract- Consists of the esophagus, stomach, small intestine (22-25 feet in length), and large intestine (5-6 feet in length).

Gene- A basic unit of heredity with each occupying a certain, specific place on a chromosome.

Genetic Testing - A blood test assessed by a lab to determine if certain Lynch syndrome mutations exist.

Geneticist-  A physician who specializes in genetics.

Germline Mutation- Same as hereditary mutation, called germline because hereditary mutations come egg and sperm cells, which are also called germ cells.

Glioblastoma- A type of primary malignant brain tumor sometimes associated with Lynch syndrome.

Gynecoogist- A physician that specializes in women's cancers.

Hemoccult test- A test using specially treated cardboard slides to check for hidden blood in the stool.

Hereditary- Genetically transmitted from parent to children.

hMLH1, hMSH2, hPMS1, hPMS2- The abbreviated names of some of the more known genes that, when abnormal, cause HNPCC. They are located on chromosomes 2, 3, and 7.

HNPCC(Hereditary Nonpolyposis Colorectal Cancer) - A condition in which the tendency to develop colon cancer, cancer of the endometrium, stomach cancer, ovarian cancer and a variety of other cancers is inherited (it is hereditary).

Hysterectomy- Surgical removal of the uterus.

IHC Testing - (See Immunohistochemistry)

Ileoanal pull-through (pelvic pouch procedure, ileoanal anastomosis procedure)- Removal the colon and the lining of the rectum, leaving the underlying anal muscles, or sphincters. The last part of the small intestine is joined to the anus and an internal pelvic pouch is created.

Ileorectal anastomosis- Removal of the colon and joining of the last part of the small intestine (ileum) to the rectum.

Ileostomy (proctocolectomy)- Removal of the colon, rectum, and anus. An opening is then made from the ileum through the abdominal wall.

Ileum- The last part of the small intestine, 12-15 feet long.

Immunohistochemistry- Also known as IHC.  Pathology test of tumor involving staining tumor tissue samples to determine the presence or the absence of certain proteins which may reveal which mutated genes caused the cancer.

Inflammation - Chronic inflammation can trigger the immune system to battle against a persistent infection or bacterium and can contribute to the development of cancer.

Jejunum- The middle part of the small intestine, 8-10 feet long.

Karyotype- A picture of the chromosomes.

Keratoacanthoma- False skin cancer, appearing like a little volcano

LSI- Abbreviation for Lynch Syndrome International

Lynch Syndrome I & II- Another name for the inherited condition, HNPCC.

Malignant - Cancerous

Marker- A physical abnormality that may indicate the presence of, or may predict the future occurrence of a specific disorder in an individual.

Metastasis- Spread of cancer by the lymphatics or bloodstream to other sites in the body.

Microsatellite: Strand of DNA consisting of a sequence of repetitions of one to six base pairs in length.

Microsatellite Instability -  Condition created by damaged DNA due to defects in the normal DNA repair process.

MisMatch Repair Gene - Genes that contain mismatch repair proteins that check for and repair mistakes made in the production of new DNA.  When a mismatch repair gene becomes altered, as in Lynch syndrome, it ceases to make proteins or ceases to work properly, allowing cancers to develop.

MMR- Mismatch Repair

MRI- A procedure in which radio waves and a powerful magnet linked to a computer is used to create detailed pictures of areas inside the body. These pictures can show the difference between normal and diseased tissue.

MSI- Pathology test of a tumor to determine if instability or other qualities of Lynch syndrome exist.

Muir Torre - A rare inherited skin disorder associated with mutations in mismatch repair proteins, hMSH-2 and hMLH-1, which predispose affected patients to cancer malignancies.

Mutation- A change in a gene which may result in a specific disorder.

Non-Invasive-  A procedure in which nothing enters the body (i.e., saliva DNA testing)

Oncologist – A physician who specializes in treating cancers

Ops - A local LSI organization that provides public awareness and support to those afflicted.

Ostomate- A person with an ileostomy (or colostomy).

Palliative Care - Medical or comfort care that reduces the severity of a disease or slows its progress rather than providing a cure, i.e.,  if surgery cannot be performed to remove a tumor, radiation treatment might be tried to reduce its rate of growth, and pain management could help the patient manage physical symptoms.

Pathologist: A physician who examines tissues and fluids to diagnose disease to assist in making treatment decisions

Pedigree- family tree; genealogy.

Polyp- nonmalignant growth of tissue protruding from the mucous lining of an organ such as the nose, bladder, or intestine. Also called polypus

Polyposis- See FAP above.

Port - implanted device, below the skin, allowing a catheter to be attached to infuse medicines and fluids such as chemotherapy into the body and to allow blood to be drawn out.

Previvor- An individual diagnosed with Lynch syndrome but whom has not contracted a cancer.

Primary Brain Tumor -   tumor that originates in the brain or spinal cord tissue rather than spreading to the brain from another part of the body.

Proband:  First individual identified in a family that has a specific hereditary disorder.

Prophylactic:  A preventative measure

Propositus/Proposita- (Proband; Index case). The first individual to be identified in a family that has a specific hereditary disorder.

Sarcoma - tumor of the soft tissue or bone

Sebaceous Adenomas- Non cancerous skin tumor of an oil producing gland

Sebaceous Carcinoma - Cancerous skin tumor of an oil producing gland

Sebaceous Epithelioma - A benign tumor of the epitheliom of the sebaceous gland containing basal or germinal cells.  

Salpingo-oophorectomy- Removal of the ovary and its Fallopian tube.

Sporadic Cancer:  Cancer occurring in people with no family history and no inherited cause.

Staging- Levels of cancer advancement in the body.

Stoma- Artificially created opening in the abdomen.

Surveillance - Regularly scheduled tests to detect cancer

Survivor- Individual diagnosed with Lynch cancer and has contracted a Lynchcancer.

Syndrome- A collection of abnormal physical characteristics occurring in an individual

Transvaginal Ultrasound - High-resolution images of the uterus and ovaries; may be used to screen for endometrial or ovarian cancer

Urine Cytology - Examination of the urine to detect cancer and inflammatory disease in the urinary tract.

Urologist- A physician who specializes in the urinary tract.

VUS - A variant of uncertain significance (VUS) is a genetic sequence change whose association with disease risk is currently unknown.  Persons with a VUS should be managed as though they have Lynch syndrome.

{jb_quote}IN TRIBUTE{/jb_quote}

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WITH LOVE....

IN HONOR OF LINDA MANSON

Mary Popa

Linda L. Gibb

IN HONOR OF LAURA LEIGH WETSEL AND REBECCA MARTIN

The Mathews Family

The Nagel Family

The Vaughn Family

IN MEMORY OF VICKI ALWARD

On April 2, 2011, Vicki Alward, of Decatur, Illinois, lost a seven year battle with Lynch cancers. She raised four wonderful children and adored four grandchildren, was a loving wife and a nurturing mother. She was loved by a community. Her passion was writing poetry, traveling the world and spending time with her family. Her laugh, smile and heart encouraged those to live and cherish life. A giving person, she changed the lives of people she touched, both during and following life, including many of us and our families. We are so very grateful to her, her family and to those who loved her...our hearts are with Dr. Philip Alward, the Alward family and all those who loved and still love her.

Diana Odon

Advanced Eyecare

Sally Hodges

Dawn Bruner

Christine Swim

Mary Totel

Ron McGregor, MD

Roland Carlson

The Robert and Elise Rokose Family

Katherine G. Bellows

The Robert and Norma Reedy Family

The Paul and Shirley Stanley Family

Janet Gaither

Sikitch, LLP

The William and Peggy Watson Family

Betty L. Holt

Macon County Eye Center

The Lloyd and Jo Ellen Allsop Family

Cara S. Montgomery

Sarah E. Helton

Jeffrey M. Smith, MD

John Lee, MD

The Jerald and Miriam Jackson Family

The Philip Alward Family

The Thomas and Emilee Best Family

The Clark and Shirley Furr Family

The James and Phyllis Brubaker Family

Macon Family Medical Society

John H. Huff

Dan and Dorothy Frishkorn Family

Arthur and Natalie Sweet

Alfred and Shirley Ann Blickensderfer

Diane Odin

Paul E. Kroenlien

Richard and Toni Helton

Alliance Global Investors

Reagan and Cathy Flemming

Marsha Grubb

Dr. Norman Tolly, Center for Sight

In Memory of Tom Kaiser

The Cook Family

Memorial in Honor of Pamela Kaye Vollmer

Mr. and Mrs. Lloyd Allsop

Mr. and Mrs. Marvin Allsop

Memorial in Honor of Rachel George-Greenwalt

Sometimes people come into our lives for reasons unknown to us...to help us learn, to inspire us or to serve as a warning. Rachel George-Greenwalt was one of those persons who will always live within our memories as she provided all of that and more during our encounter and working together to protect families and save lives.

On December 10, 2011, Rachel George-Greenwalt passed away from a rare Stage 4 cancer of the appendix. Rachel was a passionate and active volunteer of Lynch Syndrome International. Despite a terminal diagnosis, she never complained. She always thought of others first, never gave up and participated in representing LSI at Relay for Life events and at local parades. She was a strong advocate of those at high risk for Lynch syndrome and participated in clinical trials in an attempt to find a vaccine which would be effective in fighting our cancers as well as authored a blog, sharing her experiences with fighting Lynch cancers.

She was a radio personality in her local area, a loving wife, a mother of two little girls under the age of five, a loving daughter of one of our active volunteers and a wonderful sister to several siblings. She and her sister Mickie were very close and supportive toward one another, both dedicated toward public awareness of Lynch syndrome.

We will miss Rachel dearly. Her courage inspired us and her spirit will live within us as we speak to each and every physician, each and every person at high risk for Lynch cancers and as we advocate and work toward getting more research for those with Lynch syndrome.

Lisa Whited, dedicated to Mickey George

Margaret Davidson, dedicated to the George/Greenwalt Families

Jennifer Taylor, dedicated to Erma Rutter

Janet Pierce, dedicated to Jason Greenwalt

Anonymous

Stephen and Linda Bruzzone

Jane Linscott

Pat Talder

Charles and KarenTornes

Denis and Anna Pierce

Tina Kanios

Janet Pierce dedicated in Memory of Rachel Greenwalt

Anonymous In Memory of Rachel Greenwalt

Jennifer Taylor dedicated to Erma Rutter

Lisa Whited dedicated to the Memory of Rachel Greenwalt

Charles and Enid Tholin in Memory of Rachel Greenwalt

Damian and Wendy Chrisman Family

Douglas L. and Gina Sampson Family

David and Susan West Family

In Memory of Todd Painter

At the age of thirty eight years old, Todd Painter of Shady Side, Maryland, passed away peacefully of a Lynch syndrome related cancer. Todd not only served his country as a member of the Maryland National Guard, but was a wonderful husband and father to two very young daughters.

He was an loyal Redskins fan, followed the NASCAR circuit and was an avid outdoors enthusiast and hunter. He was recently inducted into the Annapolis Area Christian Schools' Hall of Fame for excellence in soccer, wrestling and baseball, serving as a Captain in all three sports.

Our hearts are with his wife Marina, his children, his parents, brothers and sisters and all those who loved and still love him.

Rochelle Smith Humphrey

Frederick C and Nancy A. Meyer Family

Mr. and Mrs. Ronald L. Robeson Family

Douglas S. and Nancy O. Snyder Family

Edward M. and Nancy A. Riley Family

James E. and Francis G. Catterton Family

Latva-Kokko Family

Watkins Meegan LLC

Rochelle Smith-Humphrey

Virginia Andrews

Gayle Grasso, In the Name of Tommy Painter

Brian Andrews

Charles Aldeman In the Name of Tommy Painter

Bill Dennison In the Name of the Painter Family

Alice Womble In the Name of William J. Painter

Richard Steffan In the Name of Marina Painter

Leo and Kathleen Stimmler

Ernest and Virginia Wiltsey

Charles Breiterman

In Memory of Patricia Diane Lawson

LAWSON, Patricia Diane (Robertson) "Trish" 61, passed away peacefully surrounded by her family at home on April 2, 2012, after a long courageous battle with lung cancer. Trish was born Sept. 29, 1950 at Tampa General Hospital to the late L.D. Robertson, Jr, and Frances Mitchell Robertson. She attended Gorrie Elementary, Wislon Jr High, and H.B. Plant High School, before her fathers work temporarily moved them to New Jersey where she graduated from Stevens H.S. in Edison. She tirelessly worked for Centerplate (formerly Canteen & Volume Services) for 35 years in the Tampa Bay area up until her Stage IV diagnosis on 11/30/2010.

She was the General Manager of all food, beverage, & merchandise sales for their following locations: Tampa Stadium, where she had the honor of turning the lights off for the last time for the entire Big Sombrero after their last event; McKecknie Field in Bradenton, & the NYY Legends Field. Lastly she worked for Centerplate as the Controller of Tropicana Field.

She is survived by her husband, John Lawson, and her loving daughter, Caren Carney Berry and son-in-law, Paul Berry, and precious granddaughter Camryn Diane Berry of Tampa; her sister and husband, Cathy and Frank Uvanni of Crystal River; her niece and husband, Kristin and Dan Rose, and their children Katelynn, Dominick, & Hayden of Tampa; and niece Ayren Anderson and son Anderson Briggs of Tampa; and former husband James F. Carney, Jr. of Apopka. Trish was the great-great-granddaughter of Nelson Tift, founder of Albany, GA.

She loved spending time in Key West where the Tift family was the original owners of the Hemingway House. The current Shiprwrecker's Museum has actors playing her ancestors as their tour guides. The Tift Ice Warehouse, currently the Shell Warehouse, still stands at Mallory Square where she enjoyed many of sunsets. Trish was a 3rd generation Davis Islander and loved the water so much she lived on a boat for five years, before returning to her home on Davis Islands.

The most important legacy Trish leaves behind is her generosity and caring heart. She impacted many of her employees' lives and the community through her contributions to numerous Bay Area charities that have throughout the years developed Tampa into a city of destination. Trish had a passion for helping others. She helped begin Open Arms Ministry at Hyde Park United Methodist serving the homeless. What started as a simple hot cooked breakfast on Sunday mornings in the church parking lot has now blossomed into a model program for other communities.

Tampa Bay Rays Baseball

Steve and Linda Bruzzone

In Memory of Gayle Krenik

Julia Zdrazil

Tim Krenik

Jamie Loveland In Honor of Jenn

In Memory of Paula Rubin

Melissa A. Gatusso

Michael and Jennifer Judge

Sean and Erin Erney

Peter Glintz

Marion Kerr

Richard and Gloria Ronca

Kenneth and Laurie Renko

Suzanne Cook

Michael and Brenda Palucki

Holly Boykin

Scott and Shirleen Smiley

Floyd and Mary Gladwell

Greg and Lauren Machita

Andrew and Shawn Towne

Roland and Kelley Olson

Pampered Chef Corporation

Angela Teles

DOROTHY AND JOHN SPINETTO

Wendy Allen in the name of Joanne Spinetto Marty

In Memory of Dorothy and John Spinetto

TEAM COURAGE - THE SISTERHOOD OF THE TRAVELING GENES

Through extensive family tree research and genetic counseling, the seven children of Sam and Audrey Wetzel, one by one were genetically tested for Lynch Syndrome following the death of their mother, Audrey, who passed away, March 7, 1991, of colorectal cancer.

Three children were diagnosed, Stephanie Wetzel-Toole, Marlene Wetzel-Bloomfield and Gerri Wetzel-Schoutko who are now undergoing a journey of embracing life. Together, with family and friends, they created a family organization...The Sisterhood of the Traveling Genes, to create public awareness and is supporting LSI.

Their journey continues….with 19 children, between Stephanie(7), Marlene(7), and Gerri(5), they now face the task of having each of the children genetically tested, praying they flipped the coin heads up and did not inherit Lynch Syndrome.

It is a journey to be proactive…..in Aug. 2012 Marlene Wetzel-Bloomfield had a complete hysterectomy followed by Stephanie Wetzel-Toole who had her complete hysterectomy in Dec. 2012. Having this surgery Stephanie and Marlene removed a huge part of the risk of developing endometrial cancer. With all pathology reports clear for Marlene and Stephanie they both breathed a sigh of relief.

A journey that has thankfully had all three sisters getting colonoscopies proactively for 15 years. Knowing their mother died so young and so fast, we wanted honor her memory and be proactive in their health.

Stephanie and Marlene’s journey is not over. To remain cancer free they will have to be vigilant with our health and stay on top of our wellness with yearly screenings.

A journey that led their family to find out Gerri Wetzel- Schoutko, who in Jan. 2012 became the seventh family member to be diagnosed with cancer. At age 44, nine years after her first cancer diagnosis, Gerri was diagnosed with a second cancer, Endometrial Cancer.

A journey that has recently shown the cancer, malignant thymoma, that Gerri was diagnosed with nine years ago at age 36 has reoccurred.

And, finally, a journey which lead them to step out of themselves and into the world to promote public awareness for others and to live outside themselves...in honor of them...and of their family which is standing behind one another and helping others.

Beth Darmstadter, honoring Marlene Wetzel-Bloomfield

Elizabeth O'Brien in the name of Stephanie Wetzel-Toole

Glenn Brown

Emily M. Adkins in the name of Stephanie Toole

Cindy McClain

Teresa and Joel Andreani in the name of Stephanie Wetzel Toole

Anthony LaCerva

Jennifer Lybarger

Alan Chonco

Elaine Breiner in the name of Team Courage and Stephanie Wetzel Toole

Jessica Kaminski

Anna P. Schoutko in honor of Gerri Wetzel Schoutko

Jeremiah and Diane M. Dunleavy

D.C. and Paula Thompson

Timothy and Mimi R. Burke

Ellen Breiner in honor of Stephanie Wetzel-Toole

Debbie Donofrio in honor of Stephanie Wetzel-Toole

Timothy Murnane in honor of Stephanie Wetzel-Toole

Jesse Sawyer

Linda Carter

Brenda Budzar

Sandra Maggio

Mary Ellen Volpe

IN HONOR OF KERRY MURPHY-DUARTE

Bethany Jackson

RAMSEY FAMILY

In Memory of Grandmother Charlotte Fawkes Finley and mother, Charlotte Finley Ramsey, who both died far too young, and to Charlotte Lynne Clark who is still doing well following her third Lynch related cancer, thanks to genetic testing and proper monitoring...from their loving grandson, son and brother, Marc Ramsey.

SNELLING FAMILY

In Memory of Great Grandfather Harrie Snelling, his son Hap Snelling and daughter Marcella Snelling and in honor of Hap's son, Jim and his daughter Donna and Linda, and her children Judith and Chris from a loving son in law, Steve, and with gratitude for the hope and promise of a future which will allow for families to live.

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Updated 7/15/2012

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Lynch syndrome is about families and if anyone understands that, it is Dr. Henry T. Lynch, the founder.  Today, many of us with Lynch syndrome exist, only as a result of this wonderful, caring man and his family who have given and sacrificed so very much so we and our families may live.

Words can never express our gratitude but hopefully our global actions will.  Our mission is to carry his mission forward for the generations to come--to work together as a team ---- survivors, previvors, medical professionals, genetics professionals, research professionals, governmental agencies, educational facilities, communities-- to find the over 600,000 individuals of which only 5% are diagnosed and to protect families and save lives from devastating cancers and to do so working within the true tradition of Dr. Henry Lynch.

With Immense Gratitude For All He Has Done So Our Families May Live---

Team LSI

Often referred to as the father of hereditary cancer, Lynch is a pioneer in the study of cancer and genetics. Part of the international team that discovered the location of one of two known genes involved in hereditary breast cancer, Lynch and his early cancer research significantly influenced how physicians and researchers treat and study hereditary cancers today.

Lynch’s groundbreaking research in the 1960s into the medical history data of two extended families led him to the discovery of cancer family syndrome (CFS), also known as hereditary nonpolyposis colorectal cancer (HNPCC) or Lynch syndrome.  Though not an actual cancer, Lynch syndrome strongly predisposes people who have this inherited defect to develop colorectal cancer as well as several other types of cancer.

Lynch’s use of statistics to prove the genetic link to certain cancer types was unique from other researchers at the time.

Born in Lawrence, Massachusetts on January 4, 1928, Lynch grew up in New York City. He joined the U.S. Navy at 16 using a falsified birth certificate and served in Europe, the Philippines and as a gunner on a marine ship in the Pacific during the Second World War.

After being discharged from the Navy in 1946, Lynch stepped into the ring and became a professional boxer. He earned the nickname “Hammerin’ Hank” while boxing in upper New York State and in the San Francisco area.

Lynch received his bachelor’s degree from the University of Oklahoma in 1951 and went on to earn his master’s degree in clinical psychology from the University of Denver in 1952. He received his doctorate degree in human genetics at the University of Texas, Austin, before completing medical school at the University of Texas, Galveston, in 1960. Lynch then interned at St. Mary's Hospital in Evansville, Ind. and completed his residency in internal medicine at the University of Nebraska College of Medicine in Omaha, Neb.

Lynch was an assistant professor at the University of Texas M.D. Anderson Hospital and Tumor Institute in Houston prior to joining the Creighton University School of Medicine faculty in 1967.

In 1984, Lynch established Creighton University's Hereditary Cancer Prevention Clinic, an interdisciplinary clinic that provides information and services related to hereditary cancers. He is currently chairman of Preventive Medicine at Creighton University, and the holder of the Charles F. and Mary C. Heider Endowed Chair in Cancer Research. 

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U.S. NATIONAL SUPPORT AND RESOURCES

We are in the process of developing all the support and treatment resources available, throughout the world, for individuals at high risk for Lynch cancers. The biggest fear for individuals with Lynch syndrome is whether or not there will be accessibility to surveillance testing, as well as treatment in the event one were to contract a cancer.

Each and every state within the U.S. offers affordable health care for those persons who are rejected from health insurance companies for possessing a preexisting condition.  Administered by individual states and the Federal Government, this program is known as the Affordable Health Act.

As well, Our goal?  No more survivors and hundreds of thousands of previvors until a cure can be found. Together we will make a difference.

Any and all resources listed upon any page within this website are not an endorsement of Lynch Syndrome International nor a recommendation of specific organizations, company, corporation, manufacturer, health care provider, product, institutions or facilities by Lynch Syndrome International.  By listing resources under our "Support Page," Lynch Syndrome International is merely providing a road map for individuals to follow in their search for healthcare and cancer related services.

Medicaid is a federal healthcare program administered by individual states.  The states are authorized to cover colon cancer screening but has the autonomy to decide what kind of screening it will cover and under what circumstances.  A federal website (govbenefits.gov) can help you find and determine your eligibility for state-administered programs like Medicaid.

The CDC (Center for Disease Control) offers a program entitled "Screening For Life."  This program reimburses local public health agencies for cancer screening.  Be certain and ask your local health agency if they participate and if you qualify.

The National Financial Resources Guidebook for Patients by the Patient Advocate Foundation, provides a thorough comprehensive list of resources, state by state, for those in need of financial resources to obtain diagnostic testing, treatment and ongoing surveillance.

Information:

Oconolink:  University of Pennsylvania

National Cancer Institute

List of Cancer Resources by Country (Many may be outdated)

Learn More About Colorectal Cancer Through Med Link (In Many Different Languages)

National Library of Medicine (Medline)

Cancer Prevention and Control

Division of Facilities Compliance and Recovery

Georgetown University Health Policy Institute - Consumer Guide for Getting and Keeping Health Insurance

Henry J. Kaiser Family Foundation

Insure.com

investorwords.com

National Institute of Health

National Human Genome Research Institute (NHGRI)

U.S. Department of Labor Employee Benefits, Employee Guide to Health Benefits Under Cobra

The Cancer Project Education and Guidance For Dietary Issues And Cancer Prevention

Oncofertility Consortium

Organizations Offering Assistance, Including Co-Pays and Financial Assistance

African Women's Cancer Association

American Cancer Society

American Institute for Cancer Research

Black Women's Health Imperative

Bridge of Blessings - Financial Assistance for Women With Ovarian Cancer

Bureau of Primary Health Care

CancerCare

Cancer CoPayment Assistance Foundation

Cancer Financial Assistance Coalition

Cancer Care Limited Financial Svcs for Colorectal, Womens Cancers, Pancreatic Cancer, Including Screenings

Cancer Service Directory through the National Cancer Institute

Cancer Treatment Center Search through the American Cancer Society

Candlelights Childhood Cancer Foundation

Cervical Cancer Testing Centers

Cheap Colonoscopies.com  ($950 colonoscopies, nationwide)

Chronic Disease Fund (Good Days)

Clinical Center (NIH) Guide to Governmental Cancer Trials

Colon Cancer Alliance

Co-Pay Relief

Cure For Lymphoma Foundation  

Cure Search

Department of Veterans Affairs Families USA

Fertile Hope (Livestrong Fertility Resources)

Free Clinic Nationwide Search

Financial Help For People With Cancer

Find a Gastroenterologist (AGA Referrals)

Find a Gynecologic Oncologist

GARD Genetic and Rare Diseases Information Center

Genetic Testing Laboratories through Genetests

Healthwell Foundation

Hill-Burton Funded Healthcare Certain hospitals receive federal funding to provide services to individuals who are low income and do not have the means to pay for their own health care

Johnson and Johnson Patient Assistance Foundation

American Kidney Fund

Low Cost HRSA Health Care (Locations Throughout the US)

Insure Kids Now Program

Lance Armstrong Cancer Financial Assistance

Liddy Shriver Sarcoma Initiative  Support and Financial Help

Low Cost Colonoscopies

Medicaid

Medicare Colorectal Cancer Screening Program

Myriad Genetics Financial Program

http://www.mylifeline.org/ Free Websites for Cancer Survivors, Caretakers and Families

National Brain Tumor Society

National Coalition for Cancer Survivorship

National Collegiate Foundation - Provides Financial Assistance to Young Survivors Attending College National Council on Aging

NTAF  (Fundraising Assistance and Support for Transplant and Catastrophic Injury) 800-642-8399

National Financial Resources Guidebook for Patients

National Organization for Rare Disorders - Assistance Program

NCI Designated Cancer Centers

Needy Meds.org

Netwish Provides general financial help

NIH Clinical Studies Assistance

NORDS Patience Assistance Programs

Office Of Minority Health

Office of Rare Diseases

Pallative Care Program Search

Partnership for Prescription Assistance

Patient Access Network Foundation

Patient Advocate Foundation

Patient Services Incorporated

Resolve (Assistance with Fertility Treatment)

RX Access Card

State and Local Health Departments

Sam Fund (For Young Adults)

States That Require Health Plans To Pay For Clinical Trials

Team Cantinuum   Patient Grants and Loans

Tricare Service Directory (for military members)

Veterans Administration Care Locations

Veterans Administration Cancer Program

2-1-1 Services

Prevent Cancer Foundation - Funds Research on prevention, educates on prevention, resources

Services For Underserved Persons

Avoncare provides financial medical assistance to medically underserved women.

Native American Cancer Research

Patient Advocate Foundation - Hispanic Latino Outreach Program

Viva Bien Aprenda Como Spanish Website

National Institutes of Health Spanish Hotline  301-592-8573

Teens Living With Cancer -Support in Spanish for Teens with cancer

PAF's Scholarships for Survivors Program (for young adults)

Planet Cancer (For young adults with cancer)  Websiite

Luzca Bien...Sientase Mejor (Look Good...Feel Better)  Spanish

My Oncofertility.org (Spanish)

Look Good...Feel Better for Teens  800-395-LOOK

Camp Kesem for kids and teens whose parents have cancer, California

Cancer and Careers (Spanish and English) career coaching, education, resources toward employees with cancer

For Young Adults Living With Cancer

I'm Too Young For This

massKickers

LIVESTRONG Young Adult Alliance

Single Jingles: A Testicular Cancer Foundation

Imerman Angels

First Descents

Joan's Fund

Break Cancer

Nanny Angel Network

MyLifeline.org

Sharsheret

Camp Mak-A-Dream  medically supervised, cost-free Montana experience, in an intimate community setting, for children, young adults and families affected by cancer.

MyOncolfertility.org

Make A Wish Foundation

How To Find A Gynecological Oncologist-Gynecologic Cancer Foundation

Tips for Finding Financial Assistance

The Desk.Info Roadmap Into Government Assistance

National Cancer Institute

The American Cancer Society is a godsend to those of us who have sustained Lynch cancers.  They are available to help with almost anything a survivor needs from assistance with head coverings, to the provision of medical services, to providing a warm compassionate person to listen to an anonymous, frightened voice and even transportation to medical appointments.  Do not hesitate to contact the American Cancer Society with your needs.

Financial Assistance for Medical and Genetic Testing:

The Federal Government subsidizes thousands of primary health clinics across the United States, known as HRSA Clinics.  These are listed with each individual state.  The thought is, if one does not have the financial means to obtain necessary screenings and treatment, these resources are always available.

The process would be to personally see a primary care provider at one of these facilities, advise him/her of the high risk to Lynch syndrome by providing evidence of a family history of Lynch cancers or evidence of a direct relationship with a family member with a diagnosed Lynch syndrome mutation and have him/her prescribe genetic counseling and testing for Lynch syndrome, or provide evidence of possessing a Lynch syndrome mutation and requesting the general practitioner refer you to a facility for ordered surveillance testing.

As well, the NCI finances hospital cancer programs throughout the United States.  These NCI hospitals and facilities are also listed beneath each state in which they are located, as they provide low cost/no cost health care for those who are in need and who are eligible.

Prescription Assistance

The National Cancer Institute

Adria Patient Assistance Plan 614-764-8000

Bristol-Meyers Indigent Patient Assistance Program  812-429-5000  Provides Cytoxan to patients with financial need

ICI Pharmaceutical Novaldex (tamoxifen) Patient Assistance Program  1-800-456-5678  Provides tamoxifen to patients with financial need.

Partnership for Prescription Assistance (PPA)  1-888-477-2669

Searle Pharmaceutical Company provides certain medicines to enrolled physicians.  Any physician may enrolled.  The physician is provided coupons to be redeemed for medicines by qualified patients 1-800-542-2526

Genentech - Patient Assistance Program provides financial help for cancer patients.

Needymeds - a website operated by a physician, a social worker and volunteers offering information regarding financial assistance for pharmaceuticals.

RXHope.com Complete List of Pharmaceutical Assistance by Name of Company

Air Transportation: (Free or Low Cost Airfare to Treatment for Those In Need)

New Directions for people with disabilities, inc. is a 501(c)(3) non-profit organization providing high quality local, national, and international travel vacations and holiday programs for people with mild to moderate developmental disabilities.

The National Patient Travel HELPLINE provides information about all forms of charitable, long-distance medical air transportation and provides referrals to all appropriate sources of help available in the national charitable medical air transportation network.

Patient AirLift Services arranges free air transportation based on need to individuals requiring medical care and for other humanitarian purposes.

TSA Cares is a helpline to assist travelers with disabilities and medical conditions. TSA recommends that passengers call 72 hours ahead of travel to for information about what to expect during screening.

Mission Air Transportation Network (Canada) 416-924-9333

Corporate Angel Network, Inc. White Plains NY  Corporate Aircraft free air transportation  914-328-1313

Airlifeline(USA) 800-446-1231  free air transportation for those in need of medical treatment who cannot afford commercial travel.

Mercy Medical Airlift

Air Charity Network

Air Care Alliance

Edward J. Safra Family Lodge at the NIH - Lodging while getting treatment at the NIH

Angel Flight at the NIH

Angel Flights For Veterans Services (For military families and veterans in need)

Air Ambulance Anywhere

Air Compassion America

National Patient Travel Hotline

National Patient Air Transport HELPLINE

Lodging During Treatment

Joe's House Lodging Guide for Cancer Patients

Homes That Help and Heal

Hope Lodge - Operated by the American Cancer Society

Hospitality Homes provides temporary housing in volunteer host homes and other donated accommodations for families and friends of patients seeking care at Boston-area medical centers.

The National Association of Hospital Hospitality Houses supports homes that help and heal to be more effective in their service to patients and families.

Ronald McDonald House Charities

Groceries, Cosmetic Care and Subsistence

•  
• Angel Food Ministries Provides food assistance in 32 states
• Low Income Home Energy Assistance Program -If you have difficulties paying for your utilities, LIHEAP may be able to assist you with bill payments, an energy crisis, and weatherization and energy-related home repairs. To apply, call the National Energy Assistance Referral (NEAR) project toll-free at the number provided to get the contact information for your local LIHEAP office. (Click on name for hyperlink contact)
• Society of St. Vincent de Paul Provides various services to people in need, including food programs, emergency financial assistance, emergency transportation, rent/mortgage assistance, free pharmacy services, budget counseling, referral services, and more.  Link is to local councils and contact the local council for assistance.
• Assistance with General Living Expenses - Enter Zip Code for Resources in your Local Area
• Brenda Mehling Cancer Fund provides financial assistance for patients ages 18-40 who are going through cancer treatment. Grants are awarded to cover co-payments, rent/mortgage, transportation, car insurance, repairs, and groceries.
• Angel Food Ministries Operates in 32 states providing food relief
• Blue Note Fund by the Colon Cancer Alliance
• Team Continium Provides Assistance with Utilies and Day to Day Expenses
• Road To Recovery - ACS program providing transportation to and from treatment

Health Insurance Resources Including High Risk Insurance Through States

• Health Resources and Services Administration of Databases of National Low Cost - No Cost Health Care Options
• Health Insurance Information by State
• Cancer Index of Information and Resources
• Look Good Feel Better -  Cosmetic Assistance for Women With Cancer
• National Organizations Offering Assistance To Those With Cancer

Legal Information and Referrals:

•  
• Cancer Legal Resource Center
• Cancer Legal Line
• Patient Advocate Foundation
• Genetic information Non-Discrimination Act of 2008 EEOC Website
• National Genome Research Institute Fact Sheet on the Genetic Information Non-Discrimination Act
• Genetic Testing Privacy Laws By State dated March of 2008
• Genetic Alliance Comprehensive Review of the GINA Legislation
• GINA Materials for the Public and Healthcare Providers
• Guide to the Genetic Information Nondiscrimination Act
• Frequently Asked Questions From Genetics and Public Policy Center
• C-3 - Colorectal Cancer Coalition - Political Advocacy - Contact Email
• Genetic Testing Privacy Laws by State dated 3/8/2008

Support

• Cancer Hope Network
•  
• Cancer Support Community
•  
• Cancer Survivors Network
•  
• Colon Cancer Alliance - Support, Information, Legislative Advocacy, Education, Public Awareness, Research
•  
• Dream Foundation - Grants Wishes to Terminally Ill Adults - Flower Program for Santa Barbara, Los Angeles, Res.
• Fertile Hope
•  
• Fight Colorectal Cancer - (Formerly Colorectal Cancer Coalition) Support, Information, Legislative Advocacy
•  
• Kidney Cancer Association - Collaborates with the National Cancer Institute (NCI), American Society for Clinical Oncology (ASCO), American Urological Association (AUA), and other institutions on research projects.  We educate families and physicians, and serve as an advocate on behalf of patients at the state and federal levels. (International Organization)
•  
• Transplant Foundation  1-804-285-5115
•  
• Livestrong
•  
• Lustgarten Foundation - Pancreatic Cancer Research
•  
• Ovarian Cancer National Alliance - Support, Research, Clinical Trials, Information, Legislative Advocacy
• Survivor Alert - For Young Survivors
•  
• Sam Fund - Grants to help young survivors get back onto their feet following cancer treatment.
•  
• Teens Living With Cancer
•  
• TLC  Tender Loving Care Provides wigs, hairpieces, bras, hats, swimwear, breast forms, prostheses
•  
• Cancer Information and Counseling Line  1-800-525-3777
•  
• American Psychosocial Oncology Society Provides psychological care for patients and caregivers

Revised 8/7/2012

Photo - Courtesy Stephen Thomas

INTERNATIONAL RESOURCES

Many countries offer governmental furnished health care or governmental subsidized health care.

In the Americas, countries offering universal health care include:  Argentina (combination of employer, labor union, governmental and private plans) Brazil, Canada, Chile, Costa Rica, Cuba, Grenland, Mexico, Panama, Peru, Uruguay, Trinidad, Tobaga and Venezuala.

In Asia and the Middle East, countries offering universal health insurance include:  Bhutan, Hong Kong (with the second highest survival rate in the world); China, Macau, North Korea, Mongolia, Khazakstan, Tajekistan, Turkmenistan, Azerbijan, Pakistan, Jordan, Oman.  India's health care is operated by federal governments.  Israel furnishes basic health care.

Almost all of Europe has basic or general health care.  Some countries offer health care for sickness and basic care and individuals have the opportunity to supplement their health care with private programs.  The Netherlands has a dual system whereupon all primary care is furnished by private corporation or individuals and long termed care is furnished by the government through taxation.  Taxation does pay part of the health care premiums.

In Russia, health care is free of charge, whereas in Australia, government expends about sixty percent of the costs.  In Africa, Egypt, Morocco, Libya, Algeria, South Africa, Tunisia and Ghana offer universal health care to their populations.

Early diagnosis of cancers make Lynch syndrome cancers very treatable and making certain those at risk have access to the resources which can enhance the quality of life for them and for their families.

INFORMATION

Open Access to Free Journals and Studies:

Genome Biology

Genome Medicine

BMC Genomics

BMC Medical Genomics

BMC Genetics

BMC Medical Genetics

BMC Molecular Biology

Genetic Vaccines and Therapy

Genetics Selection Evolution

Investigative Genetics

Genome Integrity

Mobile DNA

BMC Informatics

Orphanet Journal of Rare Diseases

BMC Medicine

INTERNATIONAL ORGANIZATIONS

The Human Genome -Information, Education and Statistics on International Genetics

The Human Variome Project International, Ltd

International Society for Gastrointestinal Hereditary Tumours - InSight

National Center for Biotechnical Information -Information, Education and Statistics on International Genetics

Orphanet - Information on Rare Diseases

Orphanet - Lynch Syndrome Support Group Page

Orphanet International Trial Search

World Health Organization: Genetic Counseling

The American Society of Human Genetics

American College of Human Genetics

American Board of Genetic Counseling

American Board of Medical Genetics

National Coalition for Health Education In Genetics

International Society of Nurses in Genetics

Association of Genetics Technologists

Genetic Society of America

Federal of American Societies for Experimental Biology

American Society of Gene Therapy

Ibero American Society of Human Genetics of North America

EuroGenTest, includes unites on genetic testing: quality management, information databases, public health, new technologies and education

European Society of Human Genetics (ESHG)

European Genetics Foundation (EGF)

European Cytogeneticist Association (ECA)

European Society of Gene Therapy (ESGT)

Clinical Molecular Genetics Society (CMGS)

Association of Chinese Geneticists in America

Latin American Human Genetics Network [Red Latinoamericana de Genética Humana], (RELAGH)

Latin American Society of Genetics (ALAG)

International Federation of Human Genetics Societies (see Member Societies List)

Human Genome Organisation (HUGO)

Human Genetics Programme, World Health Organization (WHO)

Society for The Study of Inborn Errors of Metabolism (SSIEM)

International Consortium  For Oral Clefts Genetics (ICOCG)

International Genetic Epidemiology Society (IGES)

EuroGenTest, includes unites on genetic testing: quality management, information databases, public health, new technologies and education

Association for Molecular Pathology (see genetics subdivision)

The Genome Action Coalition (TGAC)

National Cancer Institute - Directory of Genetic Counseling Experts

World of Genetic Societies - Federation of Societies for Experimental Biology (FASEB)

Coalition for Genetic Fairness (CGF)

Genetic Resources on the Web (GROW)

Healthy Mothers, Healthy Babies (HMHB)

Public Health Genetics Society

National Coalition for Health Professional Education in Genetics (NCHPEG)

National Advisory Council for Human Genome Research (NACHGR)

Secretary's Advisory Committee on Genetic Testing (SACGT)

National and Regional Genetics Societies and Associations, Illinois State Academy of Science

Genetické spolecnosti ve svete, lists of genetic societies

Center For Disease Control, United States Government

National Institute of Health, United States Government

World Cancer Research Fund International

Argentina

Argentina Society of Medical Genetics [Sociedade Argentina de Genética Médica]

Sociedade Argentina de Genética

Arab States

Center for Arab Genomic Studies

Bahrain
State of Bahrain Ministry of Health

Brazil

Brazilian Clinical Genetics Society [Socidade Brasileira de Genética]

Brunei Darussalam
Ministry of Health, Brunei Darussalam

Chile

Sociedad de Genética de Chile, Chilean Genetics Society

La Sociedad de Genética de Chile (affiliated with Chilean Biology Society)

China

Cancer Institute, Second Affiliated Hospital, Zhejiang University, Hangzhou, PR China

Cook Islands
Government of the Cook Islands

 

Eastern Biotech Genetic Testing and Counseling MSH1 and MSH2

Estonia
Estonian Ministry of Social Affairs

Estonia Society of Medical Genetics
 

Fiji
Ministry of Health, Fiji

Finland

Finnish Society of Medical Genetics

Department of Medical Genetics, University of Helsinki, Biomedicum Helsinki, P.O. Box 63, Helsinki, 00014, Finland

 

Holland

Dutch Ministry of Health, Welfare and Sport

Danish Society of Medical Genetics (Dansk Selskab for Medicinsk Genetik)

Dutch Association of Clinical Genetics (VKGN)

Netherlands Society of Human Genetics

University Medical Centre Utrecht, Lundlaan 6, Utrecht, The Netherlands

The Netherlands Cancer Institute, Plesmanlaan 121, Amsterdam, The Netherlands

St. Antonius Hospital, Koekoekslaan 1, Nieuwegein, The Netherlands

Department of Genetics, University Medical Centre Groningen, University of Groningen, Hanzeplein 1, Groningen, The Netherlands

University Medical Centre Utrecht, Heidelberglaan 100, Utrecht, The Netherlands

Department of Clinical Genetics, VU University Medical Centre, De Boelelaan 1117, Amsterdam, The Netherlands

Department of Gastroenterology and Hepatology Erasmus MC University Medical Center, PO Box 2040, 3000 CA, Rotterdam, the Netherlands

Department of Public Health, Erasmus MC University Medical Center, PO Box 2040, 3000 CA, Rotterdam, the Netherlands

Department of Clinical Genetics, Erasmus MC University Medical Center, PO Box 2040, 3000 CA, Rotterdam, the Netherlands

Department of Human and Clinical Genetics, Leiden University Medical Center, PO Box 9600, 2300 RC Leiden, the Netherlands

Department of Internal Medicine, Erasmus MC University Medical Center, PO Box 2040, 3000 CA, Rotterdam, the Netherlands

The Netherlands Cancer Institute, Amsterdam

Department of Clinical Genetics and Human Genetics, VU University Medical Center, Amsterdam

Department of Clinical Genetics, Academic Medical Center, Amsterdam

Department of Gastroenterology, The Netherlands Cancer Institute, Amsterdam

India

Cancer Institute (WIA), Adyar, Chennai - 600020, India

Italy

Italian Society of Human Genetics 

(SIGU) (Societa Italiana di Genetica Umana)

Korea

Genetics Society of Korea (GSK)

Korean Society of Human Genetics

Latvia

Latvian Medical Genetics Society

Hereditary Cancer Institute, Riga Stradiš University, Dzirciema Street 16, LV 1007, Riga, Latvia

Lebanon
Ministry of Public Health, Lebanon

Eastern Biotech Genetic Testing and Counseling MSH1  MSH2

Lithuania
Ministry of Health, Republic of Lithuania

Lithuanian Society of Human Genetics

Vilnius University Hospital Santariskiu Clinics, Santariskiu st. 2, Vilnius LT-08661, Lithuania

Luxembourg
Ministre de la Sante, Luxembourg

New Zealand
New Zealand Ministry of Health

Papua New Guinea
Department of Health, Papua New Guinea


Qatar
Ministry of Public Health, Qatar

Romania

Romanian Society of Human Genetics
 

Serbia

Serbian Society for Human Genetics

Singapore

National University Hospital, Singapore

Slovak Republic
Ministry of Health, Slovak Republic (This website is not available in English)

Slovenia
Ministry of Health, Republic of Slovenia

UAE

College of Health Sciences, Genetics, University of Sharjah, Sharjah, United Arab Emirates

Revised 9/13/2012

Photo - Courtesy of Drew Herron

REGIONAL REPRESENTATIVES AND THE LSI BUDDY PROGRAM

Lynch Syndrome International is an all volunteer organization with NO person, within the organization, personally compensated for their good efforts.

The Directors of LSI are all Survivors, Previvors, Medical Professionals and those who care for us and who have a special knowledge and experience with Lynch syndrome.

The heart of LSI is within our global regions and within the regional representatives and dozens of LSI volunteers as they operate the grass roots public awareness programs, learn of the resources available in the area for those with Lynch syndrome and provide public awareness to members of the community and local support to those with Lynch syndrome.  Our representatives, when available, do travel on a regional basis to conferences, exhibitions and public events and do speak locally on behalf of public awareness for Lynch syndrome.

Lynch Syndrome International volunteers  come from all walks of life, come in all ages, all  colors and some speak various different languages. exactly the same as the diverse populations in our communities as Lynch syndrome is not discriminatory.  It doesn't care if you are black, brown, yellow, red or white, or male or female, or a specific religion or sexual preference.  It prefers the young but will strike at any age...therefore, we have developed a network of Moms, Dads, students, caretakers and everyday people with Lynch syndrome or who are familiar with Lynch syndrome to be available to be there during time of need.

Lynch Syndrome International offers "Buddy to Buddy" networking whereupon individuals at high risk for Lynch syndrome can meet and interact with others who are also at high risk.  Our regional representatives provide support for individuals who have Lynch syndrome through the "Buddy to Buddy" program.  To make certain you are immediately contacted by someone who shares your interests and your background, contact us via email at info@lynchcancers.com  or by phone at 707-689-5089. 

Only those who have had a personal experience with Lynch syndrome can truly understand the feelings individuals go through with the initial diagnosis of Lynch syndrome and/or the cancers of Lynch syndrome.  Our mission is to be here for one another.

WELCOME TO THE LSI LIBRARY!

Offering a host of resources on Lynch syndrome.

GUIDELINES:

AGA Guidelines for Colorectal Cancer March 2008

Guidelines Tor The Clinical Management Of Lynch Syndrome by Dr. Hans Vasen 2007

Revised Bethesda Guidelines for Hereditary Non-Polyposis Colorectal Cancer (Lynch Syndrome) and Microsatellite Instability 2004

Society of Gynecological Oncologists 2007   (More detailed information)

Practice Parameters of Patients with Dominantly Inherited Colon Cancer the American Society of Colon and Rectal Surgeons 2003  Update 2006

Genetic Counseling Considerations In the Evaluation of Families for Lynch Syndrome-A Review - Journal of Genetic Counseling, National Society of Genetic Counselors, Inc. 2010

Revised 7/23/2011

CLINICAL TRIALS AND REGISTRIES

One of the greatest ways we could pay forward for everything those who have cared for us have done in order to enhance our quality of life is to enroll in Familial Cancer Registries and Clinical Trials so future generations may continue to protect their families and save lives.

Please become involved in these activities as they are the most important lifesaving measures taken today.

Familial Cancer Registries

Italy:  Registro Tumori Collorettali

Lynch Syndrome CAPP3 Aspirin Study, Preparing to Recruit 3,000 Individuals To Determine Daily Dose of Aspirin to Reduce Lynch Syndrome Tumors In Those With Lynch Syndrome.  Register Now for Study Information Once Study Is Released.   Physician Information and Recruitment.

Lynch Syndrome Clinical Trials

National Institute of Health Clinical Trials - Includes Not Yet Recruiting, Recruiting, In Process and Completed Trials for Lynch Syndrome.

Study by Ohio State University for Cryopreservation of Eggs For Women Undergoing Treatments  or SurgeriesWhich May Affect Fertility

Study by Helen and Harry Gray Cancer Center at Hartford Hospital (Connecticut) regarding Hyperbaric Oxygen and Ability to Improve Erectile Function  Following Surgery for Prostate Cancer

Massachusetts General Hospital - Preoperative Staging of Pancreatic Cancer Using Super Paramagnetic Iron Oxide Magnetic Reasonance Imaging

Pfizer, Institut National du Cancer (France)- Biological, Pathological and Imagery Markers In The First Line Treatment Of Metastatic Clear Cell Renal Cell Carcinoma

Axo-Gen, Vanderbilt Ingram Cancer Center, Nashville, TN  Nerve Reconstruction In Individuals Using Avance In Subjects Who Undergo Robotic Assisted Prostatectomy For Treatment of Prostate Cancer

Eisai, MD Anderson, Houston, TX - Dalteparin for Venous Thromboembolism (VTE) Prophylaxis in Pancreatic Cancer Patients

European Association for Endoscopic Surgery (Italy) - Transanal Endoscopic Microsurgery vs. Endoscopic Submucosal Dissection For Large Rectal Adenomas

Hospital Donostaia, San Sebastian, Spain Study to Evaluate the Efficacy of Pravastatin on Survival and Recurrence of Advanced Gastroesophageal Cancer

Gifu, Japan - Republic of Korea  Comparing Covered Self-expandable Metallic Stent (SEMS) Above/Across the Sphincter of Oddi

Seoul National University Hospital - Cyclooxygenase-2 Inhibitor for Adjuvant Anticancer Effect in Patients With Biliary-pancreas Cancer

Universitaetsspital-Basel - Influence of N-Acetylcysteine on Morbidity, Oxygenation and Cytokine Levels in Partial or Total Esophagectomy for Cancer

Santa Clara Valley Medical Center, San Jose, CA.  Bowel Preparation for Inpatient Colonoscopy

Novartis - Germany  An Open Label, Single Arm Trial to Characterize Patients With Metastatic Renal Cell Carcinoma Treated With Everolimus After Failure of the First VEGF-targeted Therapy (MARC-2

Medical Center of Fudan University - Shanghai New Adjuvant Chemotherapy of Non Resectable Liver Metastasis of Colorectal Cancer Without Bleeding, Obstruction

David C. Pratt Cancer Center at St. Johns Mercy, St. Louis, Missouri  Stereotactic Body Radiotherapy for Unresectable Pancreatic Cancer - Stereotactic Body Radiotherapy for Liver Tumors, Stereotactic Body Radiotherapy for Prostate Cancer

Bayer Corporation Study to Observe Safety and Efficacy of Nexavar in Treatment of Kidney Cancer

Buenos Aires, Argentina  Epoetin Alfa (Hemax®) Phase IV Study in Chemotherapy Induced Anemia

West China Hospital at Sichuan University  Effective Study of Preoperative Short-course Radiotherapy for the Advanced Resectable Rectal Cancer

Daniel Stephen Engeler Safety Study of Bipolar Versus Monopolar Transurethral Resection of Bladder Tumors

Case Comprehensive Cancer Center and the Medicis Pharmaceutical Company:  Forehead Scars Following Mohs Micrographic Surgery and Reconstruction for Skin Cancer

Myriad Genetics-Various U.S. Locations  Study Comparing Optimized 5-FU Dosing and Standard Dosing in Metastatic Colorectal Cancer Patients Treated With mFOLFOX6

Odense University Hospital - Denmark CUP Project PET/CT  Applied Early In the Work Up For Metastasizing Of An Unknown Primary Tumor 

Mayo Clinic, Jacksonville, Florida  Improving Complete Endoscopic Mucosal Resection (EMR) of Colorectal Neoplasia

Bristol-Myers Squibb  First-Line Gemcitabine, Cisplatin + Ipilimumab for Metastatic Urothelial Carcinoma

Novartis - Memorial Sloan Kettering  BKM120 in Metastatic Transitional Cell Carcinoma of the Urothelium

Glaxo-Smith-Klein  Memorial Sloan Kettering  Gemcitabine and Pazopanib in Chemotherapy Naïve Patients With Advanced/Metastatic Urothelial Carcinoma Ineligible for Cisplatin-based Chemotherapy

ImClone  Study of Ramucirumab or IMC-18F1 With Docetaxel or Docetaxel Alone as Second-Line Therapy in Participants With Bladder,Urethra, Ureter, or Renal Pelvis Carcinoma

Sanofi- Aventus  European Organization of Research and Treatment for Cancer. Efficacy of FOLFOX Verus FOLFOX plus Afibercept in K-ras Mutant Patients with Resectable Liver Metastases (BOS3)  

LECTURE AND POWER POINT PRESENTATIONS

Power Point Presentation by Dr. Hans Vasen and Dr. Patrick Lynch, Presented At the Insight Conference

Power Point Presentation by Dr. Henry T. Lynch, MD and Jane T. Lynch, BSN  The Extraintestinal Cancers of Lynch Syndrome

Power Point Presentation on MSI - IHC Pathological Tumor Testing

Epidemiology of Colon Cancer, Presented to the San Diego Academy of Family Physicians 11/14/2009

UC San Francisco 2009 Slides  MSI Basics for Pathologists -  Grener

The Power of Sustainable Changes in Diet and Lifestyle by Dean Ornish, M.D., founder and president of the nonprofit Preventive Medicine Research Institute in Sausalito, California. (A one hour plus program courtesy of MD Anderson Cancer Center.)

Lynch Syndrome: Diagnosis and Screening in 2008 Heather Hampel, MS, GCG; Wendy Frankel, MD; Jonathan Terdiman, MD; Roger C. Haggitt Gastrointestinal Pathology Society Session - May 18, 2008

ASCO Article Outlining Study of Taking Effective Family Histories

Revised 7/24/2012

CME ACCREDITED CLASSES

For the Nurses:  CME Online Credits for Course On Lynch Syndrome, Expires 4/15/2012, 45 minute course, .75 CE

Harvard Medical School: Genetics - Colon Cancer Expires 7/6/2013

CME Genetics: Colon Cancer (Expires 6/17/2012)  One hour course, 1 CME, intended to teach indiviudals to identify those with Lynch syndrome as well as discusses screening recommendations. Cost: $20

CME Activity: The Lynch Syndrome Up to date education accredited by the American College of Physicians with faculty involving top experts in Lynch syndrome.  Expires 7/19/2013  $260 for one year.

American Medical Association - Identifying and Managing Hereditary Cancer Risk

Genomic Medicine - Family History 1 Credit, Cost $5

Genomic Medicine - Colorectal Cancer

Medscape CME Metastatic Colorectal Cancer Tumor Board (oncologists, surgeons, gastroenterologists, radiologists, interventional radiologists, nurses, pharmacists, and other healthcare professionals who treat and care for patients with advanced/metastatic colorectal cancer.)

Cerebral primitive neuroectodermal tumor in an adult with a heterozygous MSH2 mutation Alexander F. Jeans, Ian Frayling, Bharat Jasani, Lucy Side, Claire Blesing & Olaf Ansorge

Oncologic Issues through Audio Digest Foundation 1 CME Credit

Updated 9/4/2011

National Center for Biotechnology Information (NCBI) Gene Tests - information on anything and everything that is happening with Lynch syndrome research and technology.

Gene Reviews - Hereditary Non-Polyposis Colon Cancer, an excellent, comprehensive resource compiled by Dr. S. Gruber and Wendy Kohmnan, MS of the Cancer Genetics Clinic, Michigan State University, Ann Arbor, Michigan.

Guidelines for the Clinical Management of Lynch Syndrome by Dr H F A Vasen Department of Gastroenterology, Leiden University Medical Centre and The Netherlands Foundation for the Detection of Hereditary Tumours

National Cancer Institute, 6116 Executive Boulevard, Bethesda, Maryland 800-422-6347   Psychosocial Issues in Hereditary Colon Cancer Syndromes

Modified 7/25/2011

PUBLICATIONS

Risks Of Primary Extracolonic Cancers Following Colorectal Cancer In Lynch Syndrome  Sept. 2012

Daily Long Termed Aspirin Use In Lynch Syndrome Carriers Reduces Colorectal Cancers England study conducted by Sir John Burn indicates consistent long termed aspirin use (mean 25 months) at 600 mg a day significantly reduces primary colorectal cancers in those with Lynch syndrome.  Substantiates new study to determine effective dosage.

Aspirin Confers Long Term Protective Effect in Lynch Syndrome Patients, Jacqueline K. Beels, Phd.

From the Lancet - Effects of Regular Aspirin On Long Term Cancer Incidence and Metastasis 5/2012

Finnish Researchers ConcludeStudy on LS Mortality

9/5/2012  Multi national study in Spain and in Holland indicates cancer-affected LS patients with the AA genotype have shorter telomeres than those with GG and MMR gene mutation carriers with hTERT rs2075786 are at high risk to develop a LS-related tumor at an early age.  

1/2013  Collaborative study on genetic testing on first degree relatives (FDRs): Genetic testing may be underutilized by FDRs at risk for LS. The economic feasibility of screening persons with CRC for LS depends on optimizing family-wide uptake of genetic testing. Future research and clinical efforts should focus on ways to overcome barriers to genetic testing.

DIAGNOSIS AND MANAGEMENT

Guidelines intended to assist physicians and medical professionals in understanding  and diagnosing Lynch syndrome developed by the National Society of Genetic Counselors and the Collaborative Group of the Americas-- Addresses germline testing and targeted presumptive testing of tumors  12/2011 (Cost)

Diagnostic Approach and Management of Lynch Syndrome - American Cancer Society

Lynch Syndrome: Barriers to and facilitators of screening and disease management, Hered Cancer Clin Pract. 2011 Sep 7;9:8 addresses a Canadian study which concludes persons with Lynch syndrome experience multiple barriers to disease management and the necessity of a coordinated system of local services capable of providing integrated, efficient health care and follow-up.

The Family History Score Tool Identifies High Risk Families for Colorectal Cancer, from the Taussig Cancer Institute, Cleveland Clinic, Cleveland, Ohio 44195, USA andThe Sanford R. Weiss, M.D. Center for Hereditary Colorectal Neoplasia, Cleveland Clinic, Cleveland, Ohio 44195, USA 5/25/2010

Calculation of Risk of Colorectal and Endometrial Cancer Among Patients With Lynch Syndrome:  Gastroenterology 2009 - Largest study, to date, on the high lifetime risk of cancers of those affected by Lynch Syndrome.

Genetics in Medicine: March/April 2003 - Volume 5 - Issue 2 - pp 84-91 The genetic family history as a risk assessment tool in internal medicine Frezzo, Theresa M. MS; Rubinstein, Wendy S. MD, PhD; Dunham, Daniel MD, MPH; Ormond, Kelly E. MS Methods: Seventy-eight patients seen in a division of internal medicine were randomized into two groups, which completed a questionnaire or underwent a pedigree interview. Chart notes were compared to both study tools. Results: Sixty-two (79.5%) of the 78 participants scored at increased risk for at least one category. Either of the two study tools found significantly more people at high risk (48/78, 61.5%) than the chart review (31/78, 39.7%) (P = 0.01) Conclusions: Approximately 20% of patients in an unselected internal medicine practice were at an increased risk that was not documented in reviewed chart notes. Targeted family history analysis reveals patients who require increased medical surveillance, preventive measures, or genetic counseling/testing.

Genetics Home Reference from Gene Tests from the National Institute of Health.

Lynch Syndrome: Still Not A Familiar Picture, by Hess Fredrick From the World Journal of Surgical Oncology a very nice article articulating the misunderstanding many physicians still have in the diagnosis of Lynch syndrome

The Role of Genetic Assessment in Determining a Patient's Risk (for Physician Assistants) Michael A. Rackover PAC MS and Doug Scott MS  - Journal of the American Academy of Physician Assistants

Genetics in Medicine:  May 2007 - Volume 9 - Issue 5 - pp 290-297  doi: 10.1097/GIM.0b013e31804b45db  The impact of predictive genetic testing for hereditary nonpolyposis colorectal cancer: three years after testing  Conclusion:  Long-term data indicates appropriate screening and improved psychological measures for non-carriers with no evidence of undue psychological distress in carriers of hereditary nonpolyposis cancer mutations.

From Genetics in Medicine:  May 2007 Volume 9 Issue 5  pp 290-297    The impact of predictive genetic testing for hereditary nonpolyposis colorectal cancer: three years after testing Collins, Veronica R. Phd; Meiser, Bettina PhD; Ukoumunne, Obioha C PhD; Gaff, Clara PhD; St John, D. James MD; Halliday, Jane L. PhD  Conclusion:  Long term data indicates appropriate screening and improved psychological measures for non-carriers, with no evidence of undue psychological distress in carriers of Lynch syndrome.

From Genetics in Medicine, October 2009 Volume 11, Issue 10, pp 728-734 Communication, encouragement, and cancer screening in families with and without mutations for hereditary nonpolyposis colorectal cancer: A pilot study; Ersign, Anne L. PhD; Williams, Janet K. PhD; Hadley, Donald W. MS, CGC; Koehly, Laura M. PhD  Conclusion:  Respondents who communicated about risk and received encouragement to screen from a great proportion of named family members and those who had a greater proportion of named family members involved in both communication and encouragement were significantly more likely to have a shorter time interval since last colonoscopy.  Identifying patterns of interaction within at risk families, regardless of gene mutation satus, may be one avenue for promoting screening adherence.

History and Molecular Genetics of Lynch Syndrome in Family G - A Century Later ---- JAMA  Julie A. Douglas PhD, Stephen B. Gruber MD Phd, Karen A. Meister MS CGC, Joseph Bonner MS , Patrice Watson Phd, Anne Krush MS, Henry T. Lynch MD  Conclusion:  Within the last decade, molecular diagnostic testing has transformed the care of Family G and other Lynch syndrome families in which a pathogenic mutation has been identified.

Prophylactic Surgery to Reduce the Risk of Gynecologic Cancers in the Lynch Syndrome, Kathleen M. Schmeler, MD, Henry T. Lynch, MD, Lee-May Chen, MD, Mark F. Munsell, MS, Pamela T. Soliman, MD, Mary Beth Clark, MSW, Molly S. Daniels, MS, Kristin G. White, BS, Stephen G. Boyd-Rogers, RN, Peggy G. Conrad, MS, Kathleen Yl Yang, MD, Mary M. Rubin, PhD, Charlotte C. Sun, Dr.PH, Brian M. Slomovitz, MD, David M. Gershenson, MD and Karen H. Lu, MD  Conclusion:  Findings suggest that prophylactic hysterectomywith bilateral salpingo-oophorectomy is an effective strategyfor preventing endometrial and ovarian cancer in women withthe Lynch syndrome.^{(Since publication, it has been noted by MD Anderson there have been a few cases of endometrial cancer despite hysterectomy, however the conclusion remains the same.)}

Risk Assessment, Genetic Testing, and Management of Lynch Syndrome - Shilpa Grover, MD, MPH and Sapna Syngal, MD MPH, Boston, Massachusetts

Prospective Screening for Lynch Syndrome In a Cohort of Colorectal Cancer Surgical Patients in a Community Hospital:  Albuquerque and Presbyterian Hospital, Albuquerque, NM  Conclusion:  A screening protocol for detecting LS in newly diagnosed CRC patients using MMR assessment identified LS in at least 8% of screened patients and in at least of 2.0% of all CRC resected. Clinical suspicion misses a significant proportion of patients who have LS. This protocol is a significant step forward in the timely identification of LS in a community hospital setting.

Diagnosis and Management of Hereditary Colorectal Cancer Syndromes: Lynch Syndrome As A Model, Henry T. Lynch

NationalCenterfor Biotechnology Information (NCBI) Gene Tests  providing information on anythingand everything that is happening with Lynch syndrome research and technology.

12/13/2010 Netherlands study indicates individuals with LS are good candidates for chemo prevention.  The response of MMR-Deficient tumors to standard chemotherapy and radiotherapy differs from that of MMR-proficient tumors.  Efforts should be directed toward designing tailored strategies concerning both chemo prevention and medical cancer treatment for individuals affected with Lynch syndrome.

A excellent study from Kaiser Permanente and the Marshfield Clinic regarding theunderdiagnosis of Lynch Syndrome.  May 2012

A study from Canada assessing the barriers to diagnosis and management of Lynch syndrome:  Lynch Syndrome Barriers To and Facilitators of Screening and Disease Management  9/2011, Hereditary Cancer in Clinical Practice 2011doi:10.1186/1897-4287-9-8

THE CANCERS

The Risk of Extracolonic Primary Cancers Following Colorectal Cancer in Lynch Syndrome  An international study of 764 carriers of Lynch syndrome.  September, 2012

Colorectal And Other Cancer Risks For Carriers and Non-Carriers From Families With A DNA Mismatch Repair Gene Mutation - A Prospective Cohort Study/  An International Study That Is a Must Read Discussing the Risks of Specific Cancers of Lynch Syndrome And One Of The First Comprehensive Studies On The Risk of Breast Cancer Within Lynch Syndrome

MD Anderson studies thespectrum of Lynch syndrome cancers. determining those with LS can present with cancers outside the spectrum of LS.  A good paper citing information that may be helpful for diagnosis and screening for patients with Lynch Syndrome.  6/20/2012

SPECIFIC CANCERS

BIALLELIC MUTATIONS

UT Southwest article regarding important information on biallelic mutations

Canadian study describes a novel biallelic condition  10/2012

BLADDER CANCER, URETER CANCER, RENAL PELVIS CANCERS

1. 7/25/2012  A study from Canada sends a strong message: . MSH2 carriers should be offered screening for cancer of the entire urothelium, as they are at an increased risk for both bladder AND upper tract cancers
2. Risk of Urothelial Bladder Cancer In Lynch Syndrome Is Increased, In Particular, Among MSH2 Mutation Carriers JMedGenet2010  Netherlands Study, Radboud University
3. From Pubmed:  Reviews in Urology: 2003 Winter 5(1) 49-53    Urothelial Carcinoma in a Man with Hereditary Nonpolyposis Colon Cancer, by Dean L. Lenz, MD and Lewis E. Harpster, MD, Department of Surgery, Division of Urology, Pensylvania State University, Milton S. Hershey Medical Center, Hershey, Pennsylvania. Synopsis:  HNPCC should be considered in any individual with a developed upper tract urothelial cancer or a suggestive family history.
4. Risk for Urologic Cancer Linked to Risk for Colorectal Cancer WebMD CME Library
5. Upper Urinary Tract  Carcinoma In Lynch Syndrome Cases - Swedish study of U.S. participants from Creighton University data.  Majority of participants had MSH-2 and sustained ureter cancer a mean 15.8 years after a primary cancer.  Median age was 62.  Equal gender ratio and high grade tumors similar to that in the geneal population.
6. A Study From France:  21.3% Of All Upper Urinary Tract Urothelial Carcinomas May Have Underlying Lynch Syndrome As a Cause. 6/15/2012

7. Impact of Distal Ureter Management on Oncologic Outcomes Following Radical Nephroureterectomy for Upper Tract Urothelial Carcinoma   Collaborated letter on the gold standard for urinary tract urothelial carcinoma.  July 2012

BREAST CANCER

1. 8/21/2012  Dr. James Ford of Stanford University addresses the question, "Is Breast Cancer A Part of Lynch Syndrome?"  A "Must Read" for genetic counselors and medical professionals 
2. Evidence of Breast Cancer As An Integral Part Of Lynch Syndrome   Swiss study of six families of hundreds of persons with 92 female mutation carriers with MLH1 and MSH2 mutations, mean age 49 to 50 years old, consistent with the mean cancer rate of the average population (56.5 years of age) MSI present in 26 of 37 (70.3%) and altered MMR expression in 16 of 22 (72.7%) Lynch syndrome carriers.  Conclusion was findings presented a strong molecular evidence for a pivotal role of MMR deficiency in breast cancer development in Lynch syndrome.  10/27/2011
3. Lynch Syndrome-Associated Breast Cancers:  Clinicopathologic Characteristics of a Case Series from the Colon Cancer Family Registry Walsh, Buchanan, Cummings, Pearson, Arnold, Clendenning, WAlters, McKeone, Spurdle, Hopper, Jenkins, Phillips, Suthers, George, Goldblatt, Muir, Tucker, Pelzer, Gattas, Woodall, Parry, Macrae, Haile, Baron, Potter, LeMarchand, Bapat, Thibodeau, Lindor, McGuckin, Young Authors' Affiliation: Familial Cancer Laboratory, Molecular Cancer Epidemiology Laboratory, Queensland Institute of Medical Research, University of Queensland School of Medicine, University of Queensland Centre for Clinical Research, Genetic Health Queensland, Royal Brisbane and Women's Hospital, Herston, Mater Medical Research Institute, South Brisbane, Queensland, Australia; School of Population Health, Centre for MEGA Epidemiology, University of Melbourne, Melbourne, Australia; Department of Colorectal Medicine and Genetics, The Royal Melbourne Hospital, Parkville, Victoria, Australia; South Australian Clinical Genetics Service, North Adelaide, Department of Paediatrics, University of Adelaide, South Australia, Australia; Genetic Services of Western Australia, King Edward Memorial Hospital, Subiaco, School of Paediatrics and Child Health, University of Western Australia, Nedlands, Western Australia, Australia; Clinical Genetics Service, Prince of Wales Hospital, Randwick, New South Wales, Australia; Northern Regional Genetics, Auckland Hospital, University of Auckland, Auckland, New Zealand; Keck School of Medicine, University of Southern California, Los Angeles, California; Dartmouth Medical School, Hanover, New Hampshire; Fred Hutchinson Cancer Research Center, Seattle, Washington; Cancer Research Center of Hawaii, University of Hawaii at Manoa, Honolulu, Hawaii; Samuel Lunenfeld Research Institute, Mount Sinai Hospital, University of Toronto, Toronto, Canada; and Mayo Clinic, Rochester, Minnesota.
4. Unusual Presentation of Lynch Syndrome London Study 2009, Male Breast Cancer
5. Lynch Syndrome Associated Breast Cancers - Clinicopathological Characteristics Of A Case Study From The Colon Cancer Registry - David Walsh, MD, Familial Cancer Laboratory Queensland  51% of all breast cancers in individuals with Lynch syndrome indicated MMR deficiency.  Breast cancer may therefore represent a valid tissue option for the detection of MMR deficiency in which spectrum tumors are lacking.
6. Early Onset Breast Cancer In A Lebanese Family With Lynch Syndrome Due to MSH-2 Gene Mutation, Rizk Hospital, Beirut, Lebanon 5/28/2009
7. Lynch Syndrome- The Influence of Environmental Factors On Extracolonic Cancer Risk on hMLH1 C.c1528T Mutation Carriers and Their Mutation Negative Sisters South Africa Study - Extracolonic cancer occurred in 14 percent of the mutation carrier females. Breast cancer was the most extracolonic cancer.
8. Colorectal And Other Cancer Risks For Carriers and Non-Carriers From Families With A DNA Mismatch Repair Gene Mutation - A Prospective Cohort Study/  An International Study That Is a Must Read Discussing the Risks of Specific Cancers of Lynch Syndrome And One Of The First Comprehensive Studies On The Risk of Breast Cancer Within Lynch Syndrome
9. J Clin Oncol 30, 2012 (suppl 4; abstr 413) Breast Cancer In Irish Families With Lynch Syndrome Breast cancer occurred at an early age and was more common than prostate cancer in Irish Lynch Syndrome pedigrees. All reported breast cancer cases were in kindreds with MSH2 or MSH6 mutations. Enhanced breast cancer screening may be warranted in certain Lynch Syndrome kindreds.
10. Breast Cancer and South African Females, 2010, Lynch syndrome: the influence of environmental factors on extracolonic cancer risk in hMLH1 c.C1528T mutation carriers and their mutation-negative sisters.  Breast cancer was double that of those studied without mutations.

COLORECTAL CANCER/SMALL INTESTINE

1. 6/2012  University of Groeningen, Netherlands, discusses small bowel surveillance for Lynch syndrome.  Recent data indicates capsule endoscopy shows promising results for those with Lynch syndrome and who have a 5% lifetime risk of contracting small bowel cancer.
2. Parent of Origin Effects On Age At Colorectal Diagnosis Large collaborated study of many institutions concluded affected daughters of affected fathers were, on aveTage, younger than affected sons of affected mothers.  Results need confirmation in an independent study before cliinical significance can be determined.
3. Distinct Mutations in MLH1 And MSH2 Genes in Hereditary Non-Polyposis Colorectal Cancer HNPCC Families From China
4. 1/2011 According to Aukland, New Zealand study, individuals with more extensive colonic  resections have a lower risk of metastasized cancers than those receiving less extensive resections.
5. DNA Repair System Affects Colon Cancer Recurrence and Survival - Mayo Clinic Study data of more than 2,000 clinical trial patients who had Stage 2 and Stage 3 cancers, and were treated with 5FU chemotherapy protocol, concluded patients with mismatched repair had lower rates of tumor recurrence, longer remissions, fewer metasteses and better survival rates compared to those without defects.
6. 12/2010 Expeditious colonoscopy following discovery of mutation status in patients may benefit newly identified mutation carriers by addressing objective risks for cancer and alleviating underlying emotional distress responses to genetic risk information.
7. Impact of Colonoscopy Screening On Individuals At High Risk for Hereditary Nonpolyposis Colorectal Cancer HNPCC  Spain - Conclusion, Colonoscopy is effective in detecting colorectal adenomas and cancer in individuals with HNPCC - Men have a greater number of colorectal adenomas  2011
8. The Impact Of Colonoscopy Screening In Male And Female Lynch Syndrome Carriers With An MSH-2 Mutation A study from Newfoundland Canada  Study of repeat cancers between screening intervals. Within two years of a colonoscopy, 20% of the males and 7% of the females developed an interval of CRC.  CRC development may further be reduced by decreasing the interval to one year and improving quality of colonoscopy.
9. Infiltration Of Lynch Colorectal Cancers By Activated Immune Cells Associates With Early Staging Of The Primary Tumor And Absence Of Lymph Node Metastases Leiden University Medical Center, 1/18/2012  Conclusion:  The immune system assumes an important role of counteracting the progression of Lynch colorectal cancers and in selecting abnormal HLA Class I phonetypes.  Findings support the development of clinical strategies that explore the hosts natural anti-tumor immune responses.
10. Colonoscopic screening at 3-year intervals more than halves the risk of CRC, prevents CRC deaths, and decreases overall mortality by about 65% in HNPCC families.Controlled Fifteen Year Trial on Screening For Colorectal Cancers In Families With Hereditary Polyposis Colorectal Cancer. May 1, 2000  Helsinki University Central Hospital, Helsinki
11. Colonoscopic surveillance reduces the risk of colorectal cancer in people with a strong family history. This study confirms that members of families with hereditary non-polyposis colorectal cancer require surveillance with short intervals. Prevention of Colorectal Cancer By Colonoscopic Surveillance in Individuals With A Family History of Colorectal Cancer: 16 Year Prospective Follow Up Study Family Cancer Group, Cancer Research UK Colorectal Cancer Unit, St Mark's Hospital, Harrow, Middlesex HA1 3UJ.  BMJ  11/5/2005
12. 1/2013  Rectal Cancer and the Lynch syndrome: ...less common than colon cancer,RC is an important component of LS and may be overrepresented in MSH2 mutation carriers. Given high risk of synchronous or metachronous cancers, appropriate surveillance for second malignancies is necessary.

ENDOMETRIAL, CERVICAL AND UTERINE CANCERS

1. Risk of Colorectal Cancer after Diagnosis of Endometrial Cancers:  A Population-Based Study article by Science Daily  October, 2012
2. 7/2012  From Advances in Anatomic Pathology:  The risk of gynecologic malignancy in women with LS approaches and even exceeds that of CRC. Gynecologic malignancies are often the sentinel cancers in these patients.  Article reviews the morphologic and clinical features/schemas in LS EC and highlight limitations of restrictive aged-based screening strategies, uncertainty in current clinical schemas and equivocal results of morphologic studies of LS EC. With uncertainty of histologic and clinical schemas, and following developments in CRC, reflex testing of all/vast majority of newly diagnosed EC for LS should be considered.
3. 8/2012  From the Archives of Gynecology and Obstetrics, study reinforces endometrial sampling is essential for women with Lynch syndrome.
4. 8/2012  From Obstetrics and Gynecology:  Genetic Testing for Lynch Syndrome, An Inherited Cancer of the Bowel, Endometrium and Ovary  - Very nice article with good forms for taking family histories and a nice graph of a standard management plan.
5. Molecular Analysis of endometrial pathogenesis in Lynch syndrome, J Clin Onco 29 2011, MD Anderson, Ottawa University, concluded hyperplasia is part of the pre-invasive spectrum of LS associated EC.  While PTEN loss was common in both LS and sporadic EC, PIK3CA and CTNNB1 mutations were more frequent in sporadic EC than LS EC. Our results indicate that loss of PTEN expression is an early event in sporadic EC and that other common mutations in sporadic EC may have a lesser role in LS associated EC development.
6. Association of Lynch Syndrome and Risk of Invasive Cervical Cancer, 2010 ASCO Conference, J Clin Oncol 28:15S 2010  Conclusion:  Cervical cancer is associated with Lynch syndrome and the histology of cervical cancers in MMR mutation carriers may vary from expected population standards.
7. Primary Peritoneal Cancer After Bilateral Salpingo-Oophorectomy in Two Patients With Lynch Syndrome. Schmeler, Kathleen M, MD, Daniels, Molly S; Soliman, Pamela T, MD MPH;  Broaddus, Russel R, MD PhD; Deavers, Michael T. MD; Vu, Thuy M. MS; Chang, George J. MD, MS; Lu, Karen H. MD
8. Endometrial Cancer and Lynch Syndrome, Moffit Hospital, MD Anderson
9. Risk Reducing Surgery in Women At Hereditary Risk of Gynaecological Cancer Czech study, 6/2011  Risk reducing Salpingo Oopherectomy or Hysterectomy is the most effective strategy for gynecological cancer prevention in susceptability gene mutation carriers so far.
10. Risk of Endometrial Cancer For Women Diagnosed With HNPCC Related Colorectal Carcinoma - Conclusion:  One quarter of women diagnosed with Lynch Syndrome associated CRC developed EC within ten years.  University of Queensland 12/1/2010
11. Testing Women With Endometrial Cancer To Detect Lynch Syndrome, University of British Columbia 6/2011  Women may not be identified by Amsterdam 2 criteria.  IHC triage at any age, having at least 1 FDR, with a Lynch associated cancer, is a cost effective strategy for detecting Lynch syndrome.
12. US/Canadian study recommends reflex testing for all endometrial cancers. 7/2012
13. Researchers Propose Screening For Lynch Syndrome In All Patients With Newly Developed Endometrial Cancer 4/2011
14. Hysteroscopy In Diagnosing Lynch Syndrome  Endometrial Cancer Screening In Patients With Lynch Syndrome  J Clin Oncol 29: 2011 (suppl; abstr 5108)
15. Association of Lynch Syndrome and Invasive Cervical Cancer  J Clin Oncol 28:15s, 2010 (suppl; abstr 1501)

OVARIAN CANCER

1. 7/6/2012  Newfoundland study indicates gynecological screening did not result in earlier gynecologic cancer detection and despite screening two young women died from ovarian cancer suggesting that prophylactic hysterectomy with bilateral salpingo-oophorectomy be considered in female mutation carriers who have completed childbearing.
2. A Swedish and Danish study indicated ovarian cancer with Lynch syndrome presents at young age with early non-serous tumors indicating a family history of colorectal and endometrial cancers should be specifically considered in such cases.
3. Ovarian Cancer Linked To Lynch Syndrome Typically Presents as Early Onset Non-Serous Epithelial Tumors  Gynecol Oncol. 2011 Jun 1;121(3):462-5. Epub 2011 Mar 9.
4. Endometrial and Ovarian Cancer Screening and Prevention In Women With Lynch Syndrome 
5. 11/31/2012  Prevalence of loss of expression of DNA mismatch repair proteins in primary epithelial ovarian tumors  Study demonstrated the loss of MMR protein expression in 10.1% of endometriosis-associated ovarian carcinomas. 

PANCREATIC CANCER

1. Risk of Pancreatic Cancer In Lynch Syndrome Families 2009, JAMA  Dana Farber, Michigan State, Conclusion:  The risk of pancreatic cancer is eight times higher than the risk of the general population
2. Lynch Syndrome Tied to Breast and Pancreatic Cancer 2/21/2012
3. Hereditary, Pancreatic and Hepatobiliary Cancers  International Journal of Oncology 2011  Paper discussing the risk and studies regarding pancreatic cancer and Lynch syndrome

PROSTATE CANCER

1. From the American Journal of Medical Genetics, Part A, Vol 121A Issue 2, Pgs 159-162, pub 3/26/2003, European researchers publish case study of prostate cancer in Lynch syndrome.
2. Prostate Cancer Found In Lynch Syndrome Patient
3. Neuendocrine type prostatic adenocarcinoma with microsatellite instability in a patient with Lynch syndrome December of 2010, University of Nebraska Medical Center, Findings suggested HGPIN-NE is a percursor of invasive SCC and also that prostatic SCC can develop in a patient with Lynch syndrome.
4. Hereditary Prostate Cancer As A Feature of Lynch Syndrome U. Of Mich, Ann Arbor, 3/2011  35 tumors underwent MSI Analysis, 2 of which were MSI high and 1 of which was MSI-low. Conclusion: PCa may arise in Lynch syndrome due to defective DNA mismatch repair.

5. Hereditary, Pancreatic and Hepatobiliary cancers  - International Journal of Oncology, 2011  Paper discussing risk and studies regarding pancreatic cancer and Lynch syndrome.

6. Manchester UK study discovers a ten fold risk of prostate cancer has been determined with MSH2.  Other significant findings are also noted.  

7. Ohio State Study: Prostate cancer incidence was not increased in this relatively large cohort of LS patients.

SKIN CANCER/MUIR TORRE-GLASTIOBLOMA

1. 8/6/2012  Dr. Maxwell Fung, University of California - Davis, discusses IHC - MSI testing of tumors for Muir Torre  
2. 2012 Article, University of California-Davis, Mt. Sinai Dermatology Online  Muir Torre - Turcot Syndrome overlap?
3. 8/2012  MSH-6 Family Detected With Muir Torre
4. 7/2012  Mismatch Repair Protein Deficiency Is Common In Sebaceous Tumor Neoplasms7/2012  Polypoid Adenoid Carcinoma Detected in the Efferent Jejunal Loop following gastrectomy in a Muir Torre Patient.  
5. Acute Myloid Leukaemia Associated With Muir Torre Variant Of Hereditary Non Polyposis Colon Cancer (HNPCC) "Implications for inherited and acquired mutations in DNA mismatch repair genes  9/13/2011 British Journal of Haematology , Volume 156, Issue 2, January 2012
6. Glastiobloma Multiforme In the Muir Torre syndrome: From Johns Hopkins
7. A New Mutation In Muir Torre Associated With Familiar Transmission Of Different Gastrointestinal Adenocarinomas - Hungary
8. The Frequency of Muir-Torre Syndrome Among Lynch Syndrome Families: Christopher D. South , Heather Hampel , Ilene Comeras , Judith A. Westman , Wendy L. Frankel , Albert de la Chapelle, JNCI Journal of the National Cancer Institute Advance Access published February 12, 2008  
9. Italian Researchers have discovered prevelance of Muir Torre associated with the liver in a Lynch syndrome family.
10. From the Journal of the National Cancer Institute, Volume 100, No. 4, pp 277-281, published online 2/12/2008 by the Oxford University Press is of Muir-Torre Syndrome Among Lynch Syndrome Families bythe Division of Gastroenterology, Hepatology and Nutrition (CDS), Department of Pathology (WLF), and theHuman Cancer Genetics Program, Comprehensive Cancer Center (HH, IC, JAW, AdlC), of the Ohio StateUniversity-Columbus, OH;  specifically, Christopher D. South, Heather Hampel, Ilene Comeras, Judith A. Westman,Wendy L. Frankel and Albert de la Chapelle.
11. From the Journal of Investigative Dermatology 7/6/2006, an excellent, comprehensive article on Muir Torre

12.  Screening for Muir-Torre Syndrome Using Mismatch Repair Protein Immunohistochemistry of Sebaceous Neoplasms. IHC testing not recommended unless a personal history or family history of colorectal cancer exists   12/'2012

13. Brain Cancer and the Lynch Syndrome,Genetics Department, University of Helsinki, Finland,  September 2012

14.  

    Anaplastic oligodendroglioma in an adolescent with lynch syndrome, 12/19/2012  Queensland, Australia

THYROID, FIBROUS HISTIOCYTOMA, SARCOMAS, NEUROENDOCRINE TUMORS  AND CORTICAL CARCINOMA

1. 7/11/2012  University of Padova, Padua Italy study concludes soft tissue sarcomas could be included In the spectrum of Lynch syndrome, that even if rarely, depend on MMR genes deficiency
2. Unusual tumors associated with hereditary nonpolyposis colorectal cancer syndrome dated 2004 by MD Anderson concludes individuals with younger onset adrenal cortical carcinoma and anaplastic thyroid carcinoma should be tested for Lynch syndrome.
3. Malignant Fibrous histiocytoma is a rare Lynch syndrome associated tumor in two German families: German study from Biomedical Research Laboratory, Johann Wolfgang-Goethe University, Frankfurt, Germany, dated 5/20/2011 concludes two patients within two different families with MSH-2 sustained a malignant fibrous histiocytoma.
4. Sarcomas Associated With HNPCC, according to a study at the Clinical Research Center, Copenhagen, Denmark, dated 1/8/2009 .
5. Thyroid Cancer In A Patient With A Germline In An MSH-2 Mutation.  Case report and Review Of The Lynch Syndrome Expanding Tumour Spectrum  Netherlands Observation
6. Sloan Kettering Study --- Discussion of Unusual Cancers in Lynch Syndrome Including:  Peritoneal Mesothelioma; Pancreatic Neuroendocrine Tumor, Pancreatic Acinar Cell Carcinoma, and adrenalcortical carcinoma  7/2012
7. Fibrous Histiocytoma discovered in two German families with MSH2.  (2038   and 932 +-  +3A >T)  Conclusion...Data further support that patients with Lynch syndrome are at increased risk for rare tumors such as MFH. However, the prognosis compared to sporadic MFH seems to be favorable.  9/2011
8. A Molecularly Confirmed Neuroendocrine Tumor in Lynch Syndrome, Washington University, St. Louis, MO 7/2012

THE MUTATIONS

PSYCHO-SOCIAL

1. The Importance of Older Family Members In Providing Social Resources And Promoting Cancer Screenings in Families With a Hereditary Cancer Syndrome: Study by the University of Memphis, 2011.  Utilizing the older members of families to facilitate screenings and provide emotional well being of family members may be beneficial.  Study indicated younger respondents were more willing to recruit older family members as providers of social resources.
2. From Sweden, a very good Psycho-Social study Family perspectives in lynch syndrome becoming a family at risk, patterns of communication and influence on relations  9/2012
3. Impact Of Genetic Testing on Risk-Reducing Behavior in Women AT Risk for Hereditary Gynecologic Cancer Syndromes from Beth Israel Deaconess Medical Center, Boston, Massachusetts and Dana Farber Cancer Institute, Boston, Massachusetts.  Conclusion: In the first year after genetic testing, women who tested positive for HBOC or Lynch syndrome increased uptake of prophylactic surgery or screening to reduce their risk of gynecologic cancers. Women with true-negative results do not pursue these unnecessary interventions, whereas those with indeterminate or variant test results do not significantly change their risk-reducing behaviors.
4. Attitudes Toward Childbearing And Prenatal Testing In Individuals Undergoing Genetic Counseling for Lynch Syndrome:  Study of 161 individuals, mean age 46 years, 71 percent women and 53% having sustained cancer, by Dana Farber researchers revealed 80% worried about their childrens risk of cancer but only 9% reported their decision to have children was affected by their family history of cancer.
5. From Genetics in Medicine:  September 2008, Volume 20 - Issue 9 - pp 691-698 Influence of genetic discrimination perceptions and knowledge on cancer genetics referral practice among clinician Lostuter, Katrina J. MS: Sand, Sharon BA; Blazer, Kathleen R. MS; MacDonald Deborarh J. PhD; Banks, Kimberly C. MS; Lee, Carola A. JD; Schwerin, Barbara U. Esq. Juarez, Margaret MD; Uman, Gwen C. PhD, WEitzel, Jeffrey N. MD.   Conclusion:  Concerns about genetic discriminationand knowledge deficits may be barriers to cancer genetics referrals.  Aclinicial education may help promote access to cancer screening and prevention. (Note:  96% viewed genetic testing as beneficial. 75% believed fear of genetic discrimination would cause patients to decline testing. More than 60% were not aware of federal or California laws prohibiting health insurance discrimination.  Concern about genetic discrimination was selectged as reason for NONREFERRAL BY 11% of physicians.
6. National Cancer Institute Page On Psycho-Social Studies Of Those With Lynch Syndrome

ETHNIC AND CULTURE STUDIES

1.  

   Evaluation of MLH1 I219V Polymorphism in Unrelated South American Individuals Suspected of Having Lynch Syndrome.  October 2012  

2. A novel germline MLH1 mutation causing Lynch Syndrome in patients from the Republic of Macedonia  10/2012

3. 6/2012  Study concludes MSI-High appears lower in Korean patients with colorectal cancers
4. Detection of Hereditary Nonpolyposis Colorectal Cancer (HNPCC) in Non-Caucasian Patients - January 2012, MD Anderson Study of a diverse group of patients over a long period of time, breaking results down to specific cancers.
5. Characteristics of Lynch Syndrome In Thirteen Hispanic Families: Ricker et.al; Hereditary Cancer in Clinical Practice 2010 8 (Suppl 1) P. 19
6. Clinicopathologic and Genetic Features of Chinese  Hereditary Nonpolyposis Colon Cancer, Shanghai Institute for Biological Science (Abstract)
7. Prevalence and Characteristics of HNPCC In Immigrant Chinese Cancer Patients (Abstract)  Conclusion:  MSH-6 has first presentation in patients over age of 50 in Chinese patients.  Warrants further study.
8. 8/2012 Germline Analysis of hPMS2 gene in Chinese Families with HNPCC
9. Esophageal cancer risk is associated with polymorphisms of DNA repair genes MSH2 and WRN in Chinese population  2/2012
10. Germline MLH1 and MSH2 Mutations In Italian Pancreatic Cancer Patients With Suspected Lynch Syndrome:  Conclusion:  Only a small subset of Italian pancreatic cancer patients carry pathogenic MMR mutations.
11. Frequency of Extracolonic Tumors in Brazilian Families With Lynch Syndrome: analysis of an hereditary colorectal cancer institutional registry    Breast cancer was the most frequent extracolonic cancer amongst women with endometrial  cancer and uterine cervix cancer following.  For men, prostate and Gastric Cancers were the most frequent extracolonic cancers.
12. 12/12/2010 A new mutation of Lynch syndrome within Exxon 13 has been found within a Spanish family.
13. High Risk of Colorectal and Endometrial Cancer in Ashkenazai Families with MSH2 A636P Founder Mutation June 2011 University of Michigan, Ann Arbor, MI  Conclusion:  Lifetime risk of CRC and EC are high by age 70, 61.62% for men and 61.08% for women with cummulative EC risk of 55.6% for women and an average mean age of diagnosis at 53 years of age.
14. Women in Tunisia - Tunisian Study  MMR repair genes play a significant role in CRC susceptability, more research needed on cause, especially for left hand tumours.
15. Hereditary Nonpolyposis Colorectal Cancer/Lynch Syndrome In Korean Patients With Endometrial Cancer
16. 7/11/2012 A Unique Mutation in MSH2, Exon 8 Accounts For A Major Portion Of Those With Lynch Syndrome in Sardinia
17. 4/28/2011  Lynch Syndrome In A Predominantly Afrocentric Population, a clinipathological and genetic study...  Mount Sinai Hospital, Toronto with University of the West Indies, Mora Jamaica studied 25 patients under 40 with CRC, concluding thirteen percent 13% had mutations with prevalence similar to that reported by the white population.
18. Screening of the DNA Mismatch Repair Genes of MLH1, MSH2 and MSH6 In A Greek Cohort of Lynch Syndrome Suspected Families  BMC Cancer, October 11, 2010
19. Iranian study of colorectal cancer - Family History of Colorectal Cancer In Iran, Mehr Hospital, Tehran 2005.  The family history of cancer is traced in 449 CRC patients of which 112 were 45 yrs or younger and 337 were older than 45 yrs at time of diagnosis. The patients were admitted in two hospitals in Tehran, during a 4-year period.
    Results: Clinical diagnosis of HNPCC was established in 21 (4.7%) probands. Family history of CRC was more frequently reported by early-onset than by late-onset patients (29.5% vs. 12.8%, p < 0.001).
20. Hungarian Researchers discuss the Q48P Mutation of the MLH1 Gene In Three Hungarian Families 
21. Estonian study of colorectal cancer of 180 persons, by use of pathological testing, determines MSI-H and BRAF mutation were observed in 30 and 28 out of all cases, respectively. Several polymorphisms in MLH1 (13); MSH2 (11); MSH6 (10) and PMS2 (15) genes, and a few previously not described variants of unknown significance were found.
22. 8/13/2012  Within a study of 124 unrelated South American individuals, The Val allelic of the I219V polymorphism was found in 51.61% (64/124) of the individuals, with an allelic frequency of 0.3. MLH1 or MHS2 pathogenic mutations were found in 32.81% (21/64) and in 23.33% (14/60) of Val-carriers and non-carriers, respectively. Conclusion: The Val-carrying genotype was frequent in the studied population; however, it does not appear to exert any modifier effect on MLH1 or MSH2 pathogenic mutations and the development of colorectal cancer.
23. A First Incidence Study of Lynch Syndrome in Italy (6/2012)  Of the 430 patients enrolled, 17 (4%) were high risk [4 hereditary non-polyposis colorectal cancer (HNPCC), 12 suspected HNPCC and 1 MUTYH-associated adenomatous polyposis coli (MAP)], 53 moderate risk and 360 mild risk cases. MSI test was performed on 393 tumours, 46 (12%) of them showed MSI-H. In these patients, one MLH1 pathogenetic mutations and two MSH2 pathogenetic mutations were found. Thirty-two (70%) MSI-H cases demonstrated MLH1 methylation and/or BRAF mutation: None showed MLH1/MSH2 mutation. Two biallelic germline MUTYH mutations detected, one with clinical features of MAP. Strong family history of CRC was present in 4% of the enrolled cases; incidence of MLH1/MSH2 or MUTHY mutations was 1.3% and of MSI-H phenotype was 12%. MLH1 methylation and BRAF mutation can exclude 70% of MSI-H cases from gene sequencing.
24. The Canadian Journal of surgery reports a study conducted of black individuals in Jamaica has indicated thirteen percent of the population had mutations in keeping with Lynch syndrome. 10/2012

25. The MSH2 c.388_389del mutation shows a founder effect in Portuguese Lynch syndrome families but also occurs de novo in different populations.  11/2/2011

    26.  Breast cancer in Irish Families  Breast cancer occurred at an early age and was more common than prostate cancer in Irish Lynch Syndrome pedigrees. All reported breast cancer cases were in kindreds with MSH2 or MSH6 mutations. Enhanced breast cancer screening may be warranted in certain Lynch Syndrome kindreds.

26.  2005  A study of individuals in Greecereveals The majority of mutations identified in this cohort are found in hMSH2 (77.7%). Furthermore, four of the mutations identified are novel. Finally, a number of novel benign variations were observed in both genes. This is the first report of HNPCC analysis in the Greek population, further underscoring the differences observed in the various geographic populations.

27. 1/2013 Cancer Spectrum in Families from Ireland indicates cancers identified include: CRC, endometrial , gastric, ovarian, renal, breast, prostate, urothelial, NHL, CML, lung, vocal cord, sebaceous carcinoma and cervix. Median age of diagnosis was 44.

28. 1/2013 Ireland study results on LS, of age affected children and affected parents.  

MSI - IHC TUMOR TESTING

Identification of Lynch Syndrome Among Patients With Colorectal Cancer  10/17/2012   In an enormous research study involving over 10,000 individuals with Colorectal Cancers, Lynch researchers discovered universal testing of tumors among CRC Probands had a greater sensitivity compared with alternative strategies, including use of the Bethesda criteria.  

Current Hypotheses on how Microsatellite Instability Leads to Enhanced Survival of Lynch Syndrome Patients  Kristen M. Drescher, Poonam Sharma and Henry T. Lynch, Creighton University

Abstract: High levels of microsatellite instability (MSI-high) are a cardinal feature of colorectal tumors from patients with Lynch Syndrome. Other key characteristics of Lynch Syndrome are that these patients experience fewer metastases and have enhanced survival when compared to patients diagnosed with microsatellite stable (MSS) colorectal cancer. Many of the characteristics associated with Lynch Syndrome including enhanced survival are also observed in patients with sporadic MSI-high colorectal cancer. In this review we will present the current state of knowledge regarding the mechanisms that are utilized by the host to control colorectal cancer in Lynch Syndrome and why these same mechanisms fail in MSS colorectal cancers.

From the Office of Public Health Genomics: The cost-effectiveness of genetic testing strategies for Lynch syndrome among newly diagnosed patients with colorectal cancer. Mvundura M, Grosse SD, Hampel H, Palomaki GE. Genet Med. 2010 Feb;12(2):93-104.  Results:  Strategies to test for Lynch syndrome in newly diagnosed colorectal tumors using preliminary tests before gene sequencing have incremental cost-effectiveness ratios of $45,000 per life-year saved compared with no testing and $75,000 per life-year saved compared with testing restricted to patients younger than 50 years. The lowest cost testing strategies, using immunohistochemistry as a preliminary test, cost $25,000 per life-year saved relative to no testing and $40,000 per life-year saved relative to testing only patients younger than 50 years. Other testing strategies have incremental cost-effectiveness ratios $700,000 per life-year saved relative to the lowest cost strategies. Increasing the number of relatives tested would improve cost-effectiveness.

Conclusion: Laboratory-based strategies using preliminary tests seem cost-effective from the US health care system perspective. Universal testing detects nearly twice as many cases of Lynch syndrome as targeting younger patients and has an incremental cost-effectiveness ratio comparable with other preventive services. This finding provides support for a recent US recommendation to offer testing for Lynch syndrome to all newly diagnosed patients with colorectal cancer.

The Association of Tumor Microsatellite Instability Phenotype with Family History of Colorectal Cancer Mount Sanai Hospital and Samuel Luenfeld Research, University of Toronto

EGAPP Recommendations April 2011

Preoperative Diagnosis of Lynch Syndrome With DNA Mismatch Repair Immunohistochemistry On A Diagnostic Biopsy - Dec. 2011  33 samples of biopsies taken.  Study indicates mismatch repair status is accurate on biopsies allowing preoperative diagnoses of Lynch syndrome before definitive surgery, allowing the patient and the physician more options to determine appropriate protocol.

Psychological Distress In Newly Diagnosed Colorectal Cancer Patients Following Microsatellite Instability Testing for Lynch Syndrome On the Pathologist's Initiative Radboud University Nijmegen Medical Center; Nijmegen, The Netherlands  2/7/2012

Prevalence of Mismatch Repair Deficient Crypt Foci In Lynch Syndrome: A Pathological Study

Routine Universal Screening for Lynch Syndrome in Colorectal Cancer Patients In The Community Setting  J Clin Oncol 30, 2012 (suppl; abstr 1512)

MISCELLANEOUS

Pubmed Links to almost 4,000 studies results and journal articles in respect to Lynch syndrome.

ING Life Insurance speaks of hereditary conditions and Lynch syndrome and insurability

Coding and Billing for Lynch Syndrome

Modified 1/14/2013

                             Photo - Courtesy of Cops for Cancer

Courage is not the absence of fear but rather the judgment that something else is more important than fear.  ~Ambrose Redmoon

SURVIVAL 101

This section is for us, who are at high risk for Lynch cancers, as well as for those who care for us.  These pages are intended as a road map, created by those who have been through the process and designed to assist others, who, hopefully, will pass the information on and continue paying it forward so families will be protected and lives can be saved.

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Today's physicians are under more stress than ever before.  With a shortage of general practitioners nationwide and demands upon their time, as well as a lack of awareness and education about Lynch syndrome, they don't have the time or the background knowledge to answer the numerous detailed questions of the affected individual.  Lord knows we not only have a lot of questions and a considerable need for aggressive treatment by our medical professionals.

Most of us don't care about molecules interfacing with other molecules, the length of the strands of DNA within chromosones and the scientific factors of the specific mutations. Our needs are far more basic.  In the world, there are enough languages, without us having to learn and understand medical and scientific terminology. Essentially, what we want to know is:

This section is intended to assist one another through the myriad of processes, the hundreds of questions and the fears of the unknown encountered during the journey of traveling through life with Lynch syndrome.

Hopefully, many of these questions will be answered.  If not, please don't hesitate to contact us. We are here for one another. That is what Lynch Syndrome International is all about...caring for one another, protecting families and saving lives.

 This diagnosis is a reminder that this is the life you’ve got. And you’re not getting another one. Whatever has happened, you have to take this life and treasure and protect it. ~Elizabeth Edwards

The Diagnosis Process

The first process toward diagnosis is to research and document a thorough family medical history. The Office of the United States Surgeon General has a computerized program for the convenience of individuals to complete.  It can be printed and provided to our care providers for assessment of not only Lynch syndrome but all hereditary disorders.  As well, the program has the capability to upload the documented family history directly to his/her medical record.

Be sure and take a thorough family history, asking detailed questions.  Find out if there were any hysterectomies or any biopsies taken and from where.  Were there any hospitalizations and for what?  For those who passed away from cancers, see if you can get a copy of their medical records or death certificate.

If the family history reveals three family members who have sustained what appear to be Lynch cancers, (colon, ovarian, endometrial, prostate, gastric tract, pancreatic, ureter, heptobiliary tract, renal pelvic, skin and brain) two of the individuals which are directly related to the third, and one who is under the age of fifty years old, it is quite possible the family members may be at high risk for Lynch syndrome.  This criteria is what is known as the Revised Amsterdam criteria. 

This criteria is only accurate in less than fifty percent of all families that have Lynch syndrome and is also often not indicated with those who have the MSH-6.  There are many families in which Lynch syndrome cancers evolve following the age of fifty and recent studies indicate an average age of 56 years when cancer occurs.  There are small families in which it is difficult to find this pattern.  Therefore, try to expand your family history as detailed and as far back as possible.

As stated above, in order to protect one's self and one's family, it is important to discuss Lynch syndrome with the family physician who may or may not prescribe consultation with a genetic counselor.  A genetic counselor is a very valuable resource who can determine the appropriate test for an individual in the event the physician is uncertain about Lynch syndrome testing.

Dependent upon that assessment, blood may be drawn and collected for genetic testing or you may be asked to donate DNA by rubbing the inside of your check with a swab (saliva test)  If genetic testing cannot be afforded, resources (see Menu for "Support") are available in many parts of the world to assist with costs.  If a mutation is specifically identified with a family member, the cost of genetic testing is substantially reduced for that specific mutation.

If an individual has sustained colorectal, endometrial cancer or any other Lynch cancer and has been diagnosed with Lynch syndrome, that individual is referred to as a "Survivor." Prior to the diagnosis of Lynch syndrome, the tumor of the survivor may have been submitted for MSI testing or IHC testing.  This process is basically a pathology test of the cancer to determine if characteristics of Lynch syndrome exist within it. If those characteristics are identified, guidelines dictate the physician will refer the survivor for genetic testing or consultation with a genetic counselor for consideration of genetic testing of Lynch syndrome. Several major medical associations are calling for universal MSI -IHC testing of ALL colon and endometrial cancer tumors as a basic standard of care.

If an individual has not sustained a Lynch cancer and has been diagnosed with Lynch syndrome, that person is referred to as a "Previvor." This means the diagnosed individual is at high risk for Lynch cancers and will need to participate in annual surveillance testing in the same manner as is afforded to survivors, in order to detect tumors before they become cancerous or metastasize into the body.

This annual surveillance and management for Lynch syndrome is a gift as early detection of cancers allows us to obtain early intervention through early treatment of the cancer or removal of polyps before they become cancerous and often before the cancer becomes life threatening.  It is the closest thing to a cure, for us.

RECOMMENDED SCREENING FOR LYNCH SYNDROME CANCERS

Colonoscopy: Annually, beginning at age 20-25, or ten years younger than the earliest age of diagnosis in the family, whichever comes first. NCCN guidelines (NCCN Version 2.2011) state two to five years prior to the earliest age of diagnosis in the family, if under the age of 25 and to repeat every 1-2 years.

Endometrial Sampling: Annually, beginning between ages 30-35 

NCCN Guidelines reflect despite no current scientific evidence, annual endometrial samplings may be useful in select patients. (NCCN Version 2/2011)

Transvaginal Ultrasound: For Endometrial and Ovarian Cancer: Annually beginning ages 30-35 NCCN guidelines determine this is at the clinician's discretion.

CA-125: For Ovarian Cancer. While there may be times screening can be helpful, NCCN has determined data does not support routine ovarian screening for LS. (NCCN Version 2/2011) 

Ultrasonography With Cytology: Annually, beginning at age 25-35  (NCCN Guidelines, Version 2.2011 refer to an "annual urinalysis.")

Gastroscopy: Especially for individuals with family history of Lynch gastric cancers. NCCN guidelines recommends for consideration of gastric and small bowel cancer screening, an EGD with extended duodenoscopy (to distal duodenum or into the jejunum) and polypectomy every 2-3 years beginning at the age of 30-35. 

Other screenings may be considered including baseline gastric biopsies to evaluate chronic inflammation, atrophic gastropathy, and intestinal metaplasia and consider shorter screening intervals in persons with normal histology.  Evaluate for H. Pylori on the biopsies and by serology and treat those with evidence of infection.  Consider enteroscopy at the time of the EGD to evaluate the distal duodenum and jejunum. 

Consider capsule endoscopy for small bowel cancer at 2-3 year intervals beginning at age 30-35.

Examination and Review: Family History Review, Discussion of LS - Annually

Illustration Courtesy of Michael McCullough

Colon Resection: For individuals with active colon cancer that cannot be removed by colonoscopy. Subtotal colectomy favored with preferences of patient actively elicited. The National Comprehensive Cancer Center Guidelines recommend a total abdominal colectomy with ileorectal anastomosis in the event of adenomas not amenable to endoscopic rescection. (NCCN Guidelines Version 2.2011)

Hysterectomy and/or Oopherectomy: Discuss as an option after childbearing years to deter the high risk of gynecological cancers.

Dermatological Examination:  For Muir-Torre (lesions of the skin including sebaceous adenomas, sebaceous epitheliomas, basal cell epithelioma with sebaceous differentiation, sebaceous carcinoma and squamous cell cancer (keratoacanthoma type.)

Other tests may be ordered at the discretion of the Clinician to include screenings for pancreatic cancer, CNS cancer, prostate cancer, liver cancer, gallbladder cancer and renal-pelvic cancer.  Screening testing for H Pylori is often done.   H Pylori is a bacterium which can enter the stomach lining.  It triggers a release of cytokines which begin creating havoc by activating fibroblasts which rebuild infected tissue.  The high concentration of reactive gasses released by the inflamed cells create mutations in the cell's DNA.  The continued division of these cells creates cancer.  Discuss with your gastroenterologist H Pylori bacterium and your risk..

 The National Comprehensive Cancer Network sets guidelines for management of colorectal cancers and cancer syndromes.  Access is free, however one must register.  To locate the guidelines for Lynch syndrome, click under NCCN Guidelines for Detection, Prevention and Risk Reduction and then click on Colorectal Cancer Screening.  There is an entire section on Lynch syndrome and the standard guidelines.  Those mentioned above are a "patient desired standard" to minimize risk for the various cancers of Lynch syndrome. 

It cannot be emphasized enough how very important annual surveillance is for those who are at high risk for Lynch cancers.  Within the colon, the tumors of Lynch syndrome are often very small and flat, therefore, difficult for some gastroenterologists to view.  Due to this small size, they can also become hidden within the folds of the colon.  These tumors are extremely aggressive and it is not unusual to hear survivor stories of cancers growing  and metastasizing earlier than two years, compared to the average dwell time of sporadic cancers which quite often take longer than five years.

Studies have revealed those with Lynch cancers experience a higher rate of survival than those with sporadic cancers.  It is believed this may be due to the frequent surveillance testing and the detection of cancers before they become life threatening.  Therefore, don't miss those annual examinations and if your physician attempts to talk you into examinations less frequently, stand firm in insisting on being monitored annually as several recent studies have indicated is the best professional practice.

There are many survivors who set a specific time each year, when their surveillance testing is scheduled.  In some families, it is done after birthdays or important holidays. The psychological advantage is the distraction of the celebration of reaching another milestone or a big event, therefore alleviating anxiety.  It allows entrance into the next phase of surveillance testing on a positive note.

Revised  9/5/2012

“The most sacred place dwells within our heart, where dreams are born and secrets sleep, a mystical refuge of darkness and light, fear and conquest, adventure and discovery, challenge and transformation. Our heart speaks for our soul every moment while we are alive. Listen… as the whispering beat repeats: be…gin, be…gin, be…gin. It’s really that simple. Just begin… again.”
–Royce Addington

TREATMENT

Individuals with Lynch syndrome face a high predisposition to contract cancer.  Cancer is the uncontrolled growth of abnormal cells.  They follow their own form of development apart from the normal development of cell growth, division and death.  They may travel to distant locations through the bloodstream or the lymphatic systems (metastases) or they may occur in adjacent cells.  

Individuals with Lynch syndrome have an up to eighty two percent (82%) risk of contracting colon cancer during their lifetimes.  If this occurs, treatment often involves prophylactic (preventative) surgeries, including:

Colon Resection: This procedure is ordinarily prescribed for individuals with Lynch syndrome and who have contracted active colon cancer which cannot be removed by colonoscopy.  In most cases where the tumors are on the right, subtotal colectomy is favored with preferences of the patient actively elicited.  This involves removal of most the colon, leaving a small amount to be reattached to the rectum.

The type of surgery one receives is dependent upon the location of the tumor and the advanced stage of the development of the cancer.  There are many types of colectomies which are performed however the most common is the subtotal colectomy.

At first, living with a colectomy seems like an incredible challenge and can be frustrating, especially if one is undergoing chemotherapy shortly following the surgery.  I can still hear my wonderful oncologist softly and reassuringly uttering, "Patience...time is your friend.  It doesn't seem that way today, but trust me.  It will get better."

As usual, the immense amount of wisdom she had, despite her age, was right...and it took about fifteen months for my colon to settle down and get into a routine that allowed me to do almost everything I was able to do before.

Each of us is different and some may not heal as well as others.  However, what we need to realize is we DO heal and we do adjust to our life circumstances. There are ways that we can do almost anything we desire, even with an unpredictable colon!

                                Male Urinary and Reproductive Tract

As well, we may require treatment for many different cancers of the gastric system, the hepatobiliary system and the urinary tract system as well as the prostate, the skin, the brain, and women's cancers.  

                            Female Urinary and Reproductive Tract

Women diagnosed with Lynch syndrome face an extremely high lifetime risk for endometrial (up to 60%) and ovarian (up to 12%) cancers. (According to recent studies this risk may be even higher.) 

Unfortunately, the tests currently available for womens cancers are not totally accurate, though nonetheless, are still considered important procedures to undergo annually in hopes cancers will be detected.

Due to the high risk of contracting these cancers, for protection and to deter against their formation, it is recommended women consider elective prophylactic surgery including:

Hysterectomy and or/Oopherectomy: This should be discussed as an option after childbearing years to deter the high risk of gynecological cancers.  Most commonly, women with Lynch syndrome have the uterus and the ovaries removed as well as the cervix. This is an extremely common surgery conducted in the U.S. today and is believed to reduce the risk of Lynch syndrome induced womens cancers.

According to recent studies, the risk of alleviation from all cancers is not totally certain as there have been a few women who have contracted primary peritoneal cancer, despite having a hysterectomy.

The "peritoneum" is a thin, delicate layer of cells that lines the inside wall of the abdomen and covers the uterus, as well as extends over the bladder.  Consisting of epithelial cells, the peritoneum produces a fluid which eases the movement of organs inside the abdomen. Cancer of this lining is known as “primary peritoneal cancer” (PPC) and treatment consists of much the same treatment as stage III ovarian cancer.

Though these cancers are rare, it is important to be alert to the symptoms which include

• General abdominal discomfort and pain, such as gas, indigestion, pressure, swelling, bloating or cramps
• Nausea, diarrhea, constipation and frequent urination
• Loss of appetite
• Feeling full even after a light meal
• Weight gain or loss with no known reason
• Abnormal bleeding from the vagina

Studies relating to recurrence of women's cancers following hysterectomy are ongoing at MD Anderson and being studied carefully.  We urge everyone who has Lynch syndrome and who has undergone prophylactic surgery to participate in these studies in order to provide a better quality of life for those in the future.

Just recently, in Australia, teams of researchers are studying as to whether or not a component of Lynch syndrome exists, resulting in breast cancer. These studies have also been conducted in Finland, Spain, Lebanon and other countries. Early results indicate some Lynch syndrome survivors, with special subsets of Lynch syndrome, do contract breast cancer.  There is far more research which needs to be completed to determine the specific extent of those cancers. To protect one's self, it is always best to perform regular self examinations and get an annual mammogram.

Those same researchers have discovered several cases of cervical cancer which appear to be Lynch syndrome cancers.  This necessitates consideration of surgical removal of the cervix as a prophylactic measure, as well, when considering prophylactic surgery of women's organs. 

Of note, sarcomas, thyroid cancer and prostate cancer have been discovered within the Lynch syndrome.  

                     Revised:  9/5/2012

LYNCH SYNDROME AND THE FAMILY 

Lynch syndrome is a family matter and is passed down through families.  Following diagnosis of Lynch syndrome, the most loving thing any person can do is share that diagnosis with other members of their family.  Its not just a loving act, its a moral act, especially since Lynch syndrome targets families and in most cases, there are ten to hundreds of other individuals who may be at risk and whose lives could be saved as a result of your diagnostic results.

There is no "how to manual" directing individuals in how to complete this process and it is often difficult and emotional and communication between each and every family is very different.  Nonetheless, a gift of a diagnosis of Lynch syndrome is a gift of life.  It affords individuals an opportunity to grasp control over one's cancers

and grants them a sense of empowerment in being involved in preventative measures in order to protect themselves and their families.  No matter how you reveal the existence of Lynch syndrome, a diagnosis leads to prevention.

When advising children of the condition, its best to do so in small increments and in a confident and positive manner.  Most individuals who grow up within a Lynch syndrome family are acutely aware of the family history of cancer, including children.  Its a situation that is difficult to conceal from a child, so its best to simply be open about it. As time elapses, children become accustomed to its existence and both positive and negative future possibilities and are therefore open to genetic testing and ongoing surveillance, following adolescence.  Finally, when they are of age, they will not only have the tools of being able to cope with it, but be able to make important decisions as to how to prepare for the future and living with Lynch syndrome.

Kids are amazingly resilient and adapt to situations quite easily. Their minds operate with an incredible sense of logic and understanding.  With an open attitude and conversation, children become conditioned to prepare for testing when they become older.  If hope is emphasized, there is little need for fear.

It's not denial. I'm just selective about the reality I accept. ~Bill Watterson

Occasionally other adult family members, upon learning of the diagnosis, don't immediately wish to engage in testing.  That response is often confusing to us, especially after what we, as Survivors, have experienced.  However, it is important for us to remember an initial diagnosis of Lynch syndrome or cancer is often frightening and overwhelming.

Cancer is often harder to endure for those who love and care for us than it is for us.  As a survival mechanism, we develop an early understanding with it and quickly find ways to adapt to fighting it.  While chemotherapy is terribly difficult and others see the trials we experience with it, they really can't totally comprehend how we realize our "enemy," which causes us so much pain, can also be our friend in motivating a new attitude and revitalization of survival within us.

For many of us, cancer is a bittersweet experience and a brutal teacher.  Through it, we learn how to appreciate and cherish life and relationships, as well as experience a new, intense desire, stronger than anything we have ever experienced before.  We learn we have only two choices, to fight and to live or to give up and face the alternative.  The world is no longer about "me and mine," its about "us and existence."

To those who care for us, what they see is cancer is a terrible unknown that devastates people.  To us cancer is a terrible, familiar enemy that we understand and instinctively know to fight, while it tries to devastate us.

Finally, we, as humans, are predisposed to fight or flight, when confronted with fear or intense stress.  Some of us fight and some of us run and thus attempt to escape the threat.  Eventually, with time, and eventually seeing the alleviation of the threat, individuals often come around and submit to testing.  It takes some longer than others and perhaps the message needs to be rebroadcasted in a different, nonthreatening manner, "Genetic testing is about life." rather than, "If you don't test, you will die."

Therefore, time is needed for others to adjust to the diagnosis. In that situation, its best not to push, but explain the facts in a calm, logical manner.  Simply ask the individual what difference would occur in their lives if they determined to test and leave the decision up to them.  As they see family member after family member test, they will eventually follow suit, hopefully.

The best thing that can happen from taking a test is one may be negative and the worry of the unknown timing of the almost certain impending cancers is alleviated as are the fears of the need to protect one's children from Lynch syndrome. The uncertainty is over.

The worst that can happen is not very different from the current situation with the exception of the positive factor that one will be able to receive yearly surveillance in order to apprehend and remove tumors before they become cancerous.  In viewing it from that perspective, the uncertainty still exists as to when and where the cancers will come, if at all, however it is offset by the hope and the knowledge that with ongoing surveillance and early detection, the tumors are more easily and successfully treatable.

In both scenarios, uncertainty is lessened or removed from one's life.  There is no more unknown and there is hope and empowerment in being afforded surveillance testing.

With time to digest the diagnosis, time to see what happens with individuals whom have been diagnosed, time to educate one's self and time to assess and reassess all the options, the individual will have the opportunity to make a choice, however comforting or however painful that choice may be to us.

You gain strength, courage, and confidence by every experience in which you really stop to look fear in the face. You must do the thing which you think you cannot do.  

~Eleanor Roosevelt

 PREPARING FOR TREATMENT

Once diagnosed with cancer, a whirlwind feeling of being overwhelmed is not uncommon, as well as emotions of grief and loss.  However, with so very much that needs to be done, there is seldom time to work through the emotional turmoil.  Once diagnosed, we find everything moves very quickly.  Actually, that's a good thing.  It doesn't give us a lot of time to engage in negative thought and activity.

For a more rapid and comfortable recovery, a number of us have found advance planning dramatically helps to alleviate later anxiety and worry over what hasn't been done or what needs to be done, especially during recovery or during treatment.  Not having these nagging concerns allows us to fully focus and concentrate on ourselves, in order to recover much more easily and to fully participate in treatment to annihilate the cancer.

Everything you can imagine is real. ~Pablo Picasso

Every one of us sees things through different eyes and the view in which we choose to see life and what occurs in life is often how we choose life to be, within our own realities.  In example, if we view ourselves as alone and lonely, then we ARE alone and lonely and life isn't very happy or comfortable.

However, if we view being alone as our choice to indulge in peace and solitude, it then becomes a very comfortable and pleasant experience. Reality is subjective and the manner in which it exists is dependent upon how we view it to be and react to circumstances which may affect us.

Some people cherish antiques and view them as rich, heritage items.  Others view them as used furniture.  Some view spectator sports as a waste of time and others consider it to be pure pleasure.  Some people view obstacles as "problems" and others view them as opportunities, making it easier to find a solution.

Cancer is definitely an obstacle and a challenge.  It isn't for the weak of heart.  It confronts us with a bold defiance in its desire to overpower and to conquer.  How we choose to view it as well as view ourselves, is a very strong factor in how we choose whether or not to survive.

"Everybody needs beauty as well as bread, places to play in and pray in where nature may heal and cheer and give strength to the body and soul."

-John Muir

The same holds true of healing. The way we view ourselves and our health ailment is an important part of how we heal.   When ill and while trying to recover, it is self defeating to over burden ourselves by allowing ourselves to be concerned over whether or not the house needs paint or the carpets need cleaning or the lawn needs mowing, especially if there is very little we are physically able to do about the situation.

That time could better be spent resting and revitalizing our strength following chemotherapy or spent engaging in visual imagery to obliterate the tumors or even spent reflecting upon the lives of our ancestors--considering what they endured and how they overcame almost impossible odds against them in a time when life was very difficult...and drawing from their strength.

It could be spent listening to music and allowing our bodies to heal, or catching up on reading that one book that caught our eye, or going through photo scrapbooks and thinking and sharing those important moments with those we love and those who love us.  When we are ill, if at all possible, apart from medical treatment, our activities should be those for which we hold a passion, not those to which we are obligated.  Positive activities and thoughts promote happiness. Happier people heal faster.

Finally, advance planning and removing potential problems and obstacles from our lives provides resolution and balance, allows us to relax and to listen to our bodies, thus giving us the psychological and physical strength required to fight cancer.

Below is a quick check list of things we felt may be helpful to complete prior to surgery and treatment.  Think about them, consider them, delete some, add others...allow yourself to be fully prepared for concentrating solely upon RECOVERY!  Therefore:

• Spend a short period of time digesting the diagnosis and grieving--its normal, natural and necessary
• Stand up and take action.  Its empowering and strengthening.
• Meet with your family and discuss the cancer and impending surgery.
• Meet with the surgeon. Its your body and its your life.  Ask him anything and everything you wish!
• Submit to  laboratory tests and collect your own blood if desired for surgery
• Prepare legal documents including will and final directives (should always be done prior to ANY  hospitalization)
• Conduct a "spring cleaning" of home since surgery and chemotherapy may last six to eight months - wash those curtains, bedspreads, get the carpets cleaned and get the house smelling fresh, clean and welcoming for when you arrive home from surgery.
• Perform necessary home maintenance to last until recovery and treatment is completed
• Arrange for housekeeping
• Stock home with food provisions
• Arrange for home grocery delivery
• Arrange for yard and garden service
• Arrange for transportation to follow-up medical appointments and treatment.
• Prepare room to be warm and comfortable for recovery.  Nothing makes healing more comfortable than a well prepared room. Items you may wish to consider:
•  

1. MP3 player or radio for music - music is soothing and healing.
2. Television with remote features.
3. Laptop with wireless capability.
4. Lots of comfortable pillows.
5. Telephone with intercom capability or mobile radios to summon assistance (so much easier than calling out for assistance and much less labor intensive for those who care for us.)
6. Microwave
7. Small refrigerator
8. Corner shower seat (invaluable and wonderful for long, relaxing showers)
9. Rugs on tiled floor (to alleviate from cold if neuropathy occurs)
10. Night shirts (more comfortable to wear than pajamas or nightgowns)
11. Reading material and glasses
12. A good moisturizer hands, feet and dry body
13. Baby powder to alleviate irritation from linens.
14. Bed away from draft of window, but providing view of outdoors and sunshine
15. Beautiful, indoor, flowering plant
16. Warm slippers
17. Warm Robe
18. Bed pads to protect linens
19. Night lights to allow vision when getting up at night.
20. Ice Pack and Hot Pad...ice pack to reduce inflammation, hot pad to relax muscle contraction.

The final steps are to visit the anesthesiologist and, finally, prepare the day before surgery for the next morning.

Prior to surgery, it is important to stay clear of children and individuals who have been exposed to colds and viruses.  With cancer, our immune systems are compromised and we have to be in the best condition possible, both emotionally and physically, at the time of surgery.  A simple cold or virus affects us in the same manner it affects the elderly...and can quickly become a life threatening malady by developing into more severe complications such as pneumonia.

You may wish to dine at outdoor restaurants and watch DVDs rather than going to movie theaters and avoid crowded places before surgeries and while undergoing chemotherapy. 

When entering areas with sick children and persons (labs, radiology clinics, hospital waiting rooms) its best to wear a mask.  You may wish to keep one on you, when entering medical or other crowded areas, in order to protect yourself.

"Healing takes courage and we all have courage--even if we have to dig a little to find it."

-Tori Amos

LYNCH CANCERS AND THE TREATMENTS

If not detected early and treated or remove, cancers can metastasize within one to three years for those with Lynch syndrome.  Metastasis is when the cancer cells may travel to distant parts of the body through blood or through the lymphatic system.  As they spread, they detach from the primary tumor and they dig through the blood vessel wall to enter into the bloodstream.  Again, they must exit the blood vessel wall to enter into the distant sites.  

Unlike a "Previvor" who has been diagnosed with Lynch syndrome but has not sustained a cancer, the "Survivor" is an individual who has Lynch syndrome and has been diagnosed with a cancer.  Dependent upon the extent of the cancer, treatment will vary.  Many different treatments exist, both scientific and those involving complimentary alternative medicine.

The specific Lynch cancers and/or treatments for each of them include:

• Colon Cancer
• Endometrial Cancer
• Stomach Cancer
• Ovarian Cancer
• Gastrointestinal Cancer
• Renal-Pelvic Ureter Cancer
• Bladder Cancer
• Bile Duct Cancer
• Prostate Cancer  
• Liver Cancer (Hepatocellular Cancer)
• Pancreatic Cancer
• Esophagael Cancer
• Extrahepatic Bile Duct Cancer

Other cancers of Lynch Syndrome include Brain Cancer and Muir Torre (a skin cancer consisting of sebaceous adenomas - gland tumors - keratoacanthomas)

"

The goal is to live a full, productive life even with all that ambiguity.  No matter what happens, whether the cancer never flares up again or whether you die, the important thing is that the days that you have had you will have lived." - Gilda Radner

 DIAGNOSIS

Ordinarily, one of two events occur which ultimately result in a diagnosis of Lynch syndrome.  Either one gets the cancer and a Lynch syndrome diagnosis follows or a close loved one contracts cancer and family members are tested for Lynch syndrome.  With Lynch syndrome, there is always a "sacrificial lamb" who opens the door so others may live.

If you ask any person who has been diagnosed with cancer or Lynch syndrome of their initial emotion experienced upon diagnosis, three words: overwhelmed, fearful and immense grief, consistently spill out as the description of their response to the devastating news.

Grief is very common to loss and a diagnosis of cancer or a syndrome predisposing one to inherited cancer is  a loss--a loss of good health, a loss of control, perhaps a loss of a body organ, a loss of innocence, a loss of hope that the "family cancer thing" had eluded you, a loss of independence, a feeling of guilt and loss if one is negative for the syndrome while other family members are positive, etc.  Working through that grief is a process.

Since I came to the White House, I got two hearing aids, a colon operation, skin cancer, a prostate operation, and I was shot.  The damn thing is I've never felt better in my life."

-Ronald Reagan

First,  we cry, and then, as SURVIVORS and PREVIVORS, we stand up and take care of business because we simply do not have the luxury of time to actively participate in the advanced stages of grief by focusing upon the anger and fear.  There is too much to do and the stakes are far too high.  We have to learn to pick our battles and save our energy for the highest priority of survival. Certainly, its only natural those emotions would arise on an intermittent basis but often they quickly drift away as moments fleetingly disappear as time flies past us.  What is often misunderstood and interpreted as "courage" by others, is simply pure survival to us.

We realize we may not have the luxury of time to involve ourselves within negativity, especially when it doesn't present positive results. We totally understand there are two options we have within our lives and we have to immediately commit to one or the other of those options.   We can either commit to life or commit to denial though I've never known anyone who has been successful over the long term in exercising denial and live long enough to talk about it. 

Once we commit to life, our priorities change, as do we.  We transform, becoming grateful for life, grateful for our families and we recognize what we have missed along the road we've traveled.  Through our eyes, the resolution of life becomes more enhanced.  Things are funnier, relationships are more special, the grass is greener, the sky is bluer and little things don't bother us as much as before. One Lynch Survivor put it perfectly, "People with Lynch syndrome are the nicest people I know.  They are kind, involved and love life."

One thing about Lynch syndrome survivors and previvors...very seldom do you ever hear, "Why me, why did it happen to me?" from an individual with Lynch syndrome.  We understand why and how it occurred.  We understand it is part of our legacy from our families and those who came before us were far worse off than us.  They didn't have hope or technology to thwart the growth of a cancer.  They simply were diagnosed with cancer and went to bed and died.  Us?  We live!

I am not afraid of tomorrow for I have seen yesterday and I love today.

                                               ~William Allen White

Most of us have spent our lives focusing on life and living life to the fullest as a result of being a part of a family in which cancers have struck.  Most of us have been raised to appreciate life, no matter what it brings.

For many of us who have lived with a "family cancer thing" and have seen loved ones die of Lynch cancers, a diagnosis of Lynch syndrome is a blessing and brings with it a sense of finality from years of ongoing concerns and fears of the unknown.  Most human beings have a tendency to fear that which is not known to us and to gravitate toward that which is familiar. The family fear is now defined with a name and is no longer an unknown anomaly, allowing us to take control and own our syndrome.  We can be tested annually and, more often that not, Lynch cancers are highly treatable when discovered at an early stage, thus giving us the gift of enhanced longevity.  As it has emerged from the shadows, we become aware of what we are battling.  We become empowered in being able to protect our families and ourselves.

We learn we are not the only ones in the world with this syndrome and begin to realize Lynch syndrome is far more common than we thought.  In the United States, alone, over 600,000 individuals are projected to have the mutated gene causing the predisposition to cancers. To put this into perspective, that is the size of the population of Boston, Massachusetts.  Amazing, huh?

Aerial View, Boston, Massachusetts

Even more amazing is it is projected that less than five percent of that 600,000 persons have been diagnosed, to date. It is estimated one in every 440 people have Lynch syndrome.

Very few of us, thus far, have been the only ones who have been blessed with genetic testing.  The rest are unaware and vulnerable to cancers.  Perhaps that is why it is considered a rare disease?

In fact, having genetic mutations are extremely common.  Almost everyone has some form of genetic mutation--ours just happens to be being predisposed to cancers and fortunately, with today's technology and knowledge about how environmental and lifestyle factors interplay with cancer, we can protect ourselves.

Therefore, due to the above, we often don't take the time to engage in the delayed stages of grief.  Some of us have surgeries and treatments we need to undergo and busy ourselves making the necessary preparations and planning to keep our household running during our time of recovery.

Others, without the cancers, have priorities to reestablish, the need to develop a good medical team and readjust dreams, begin the process of annual surveillance testing, figure out the best way to prepare the children and how to live life, with this new and different perspective.

So, initially, we do grieve.  Its good for us to release the emotion.  Then, we stand up and we prepare.  We prepare for life and move forward upon a course of action. We prepare for surgery or treatment.  We prepare our bedrooms for comfortable and positive recovery.We prepare our home so there are no urgent maintenance issues during the time of recovery and treatment. We plan how our homes will operate while we are navigating through the process and we take care of business and make certain our legal matters are resolved and our final directives are made, not solely due to fear but of caution and because it is a good business practice and the most loving thing we can do for our families and those who care for us.

"This year for the first time, there was a drop in the reported number of actual cancer deaths in the U.S...Although we are winning the "war on cancer," there is a remarkable opportunity to save hundreds of thousands of lives and to reduce suffering from this disease with lifestyle changes and an increased use of proven screening strategies."

-Dr. Carolyn Runowicz

We learn more about our syndrome and we make lifestyle changes, realizing environment and lifestyle interplay with our predisposition toward inherited cancers.  We may choose to exercise more, work with guided imagery and positive affirmations, make adjustments to our diet and become aware of environmental factors which can exacerbate our risk.  Every positive choice we make enhances our quality of life and our chances for survival.

We sit down with our family members and alert them to the risk.  If we have cancer, we prepare for the difficult road ahead. A transformation occurs instead of withering within a cocoon, we stretch our arms and we embrace life.

"Gratitude bestows reverence, allowing us to encounter everyday epiphanies, those transcendent moments of awe that change forever how we experience life and the world."

 -John Milton

So, we go through surgeries and treatments, which come too soon for our hearts and our emotions and sometimes too late for some of us, having been easier if there had been an earlier diagnosis.  But we do it, because, again, we only have two choices once we have contracted the cancer.

We drag ourselves to the Infusion Clinics and make ourselves walk through that door, playing the odds, fully realizing the effort required will likely pay off with more moments of wonder and beautiful days. We are acutely aware of every breath we take and the colors and the smells of the earth around us. We experience an awakening.

Each day, following the completion of treatment, comes a renewed feeling of strength and a time of immense appreciation as well as a gratitude for life.  After diagnosis, many survivors focus on ways to make their lives count and on public awareness so more families can be protected and more lives saved.  Many engage in clinical trials and studies or enroll in registries so research can learn more about Lynch syndrome and the generations to follow may obtain a cure. Almost all make substantial lifestyle changes and undergo a change in priorities.

Just remember...there is substantial hope, technology and treatment today that we can live a far better quality of life than those who came before us.  One thing is for certain. With the knowledge of how fragile, wonderful and beautiful life is, each of the days, months and years to come, will be special and filled with a magical wonder for those of us with Lynch syndrome.

"If you don't ask the right questions, you do not get the right answers.  A question asked in the right way often points to its own answer.  Asking questions is the A-B-C of diagnosis.  Only the inquiring mind solves problems.

-Edward Hodnett  (1841-1920)

CHOOSING YOUR MEDICAL TEAM

The General Practitioner

Aside from family members, the most important people in the lives of a Lynch survivor and previvor are their physicians. The choice of caretakers can make an enormous difference in the quality and longevity of life and we need to be very careful in determining to whom we wish to entrust our lives.

First and primary is our general practitioner. He/she has to wear a lot of hats and requires special skills, including catching speeding bullets with his/her teeth, leaping over tall buildings, having X-Ray vision, hearing more confessions than the parish priest and providing as much advice on how to cope in life than a psychologist or a bartender.  He/she is our first line of defense in any illness, including Lynch syndrome and holds an enormous responsibility.

Today's physicians need the above skills, especially due to the lightening fast developments of medical care, whereupon it is essential to know almost every disease imaginable, how to test for it, how to diagnose it, as well as address and document all the patient's problems within an average of fifteen minutes per visit.  It is no wonder we see most physicians, today, choosing to be specialists.  It is also no wonder we see a severe shortage of GPs today, due to the extremely high, varied demands and the required knowledge to be an effective general practitioner.

In light of the requirements of today, the best GPs are super heroes and if we find one that has an inkling about Lynch syndrome or the time to research it, we have ourselves a super star that we and our families will wish to keep for life.

The process of finding a good practitioner is simple, however, with our special needs, we simply don't want one that is "good."  In fact, that is true for our selections of our entire medical team. We want the very best and to find them, we're going to have to search.

Photo Courtesy of  Alex E. Proimos

The first place to begin our quest for an excellent general practitioner, gastroenterologist, oncological gynecologist, genetics counselor and oncologist, as well as other specialists dependent upon our inherited cancers, is through referral by those who work in the medical field.  Interview them as to the positive and negative qualities of potential candidates and ask who they would recommend to care for themselves and their own families.  They always know the best, most dedicated and passionate doctors.

However, don't stop at that.  Check out and research the doctor.  Verify the level of education and whether or not complaints exist at the State Medical Board level of your state and other states in which they practiced.  Run a quick check of the courts to see if they have been involved in any litigation. Research what activities in which they are involved and learn more about their lifestyles. Conduct a "Google search" on them and see what turns up. Then assess what you find, very carefully.

If you find your physician spends his/her weekends running marathons, be reasonably prepared to accept part of your recovery program to include exercise.  If he/she has an interest in nutrition, expect your diet to be in question and lifestyle changes to be a significant part of treatment.  If the physician writes they are interested in the spiritual health of an individual, it means they expect you to take on the emotional aspects of your medical care and to participate in your treatment in a positive, effective manner. (Actually some pretty sage advice...)

The next step is to call the office of the physician who meets your criteria and ask the nurse to ask him/her if they have ever treated anyone with Lynch syndrome.  If the nurse responds, "Just a minute.  Let me check with the doctor." things are hopeful.  It means if something serious occurs, the staff isn't going to "shine you on" as what occurred above and the physician will be consulted.  If she returns on the line and advises the doctor has treated individuals with Lynch syndrome previously or even states he/she hasn't treated anyone for it but knows all the criteria for the surveillance and management of Lynch syndrome and the effects of cancer treatment, that doctor is a strong candidate.

The third step is to schedule an appointment.  During the first visit, note whether or not the physician takes a family history.  If he/she doesn't, scratch the physician from your list.  The family history is important not only for hereditary cancers but any and all hereditary disorders, such as blood clots, allergies, heart problems and other matters which can arise or interfere with Lynch syndrome management.  It is a very basic standard of care, taught in all medical schools.  If the doctor doesn't take the family history, don't walk, but run out of his office.  If he does and you click with one another, come to an understanding with one another.

Seeking medical care and advice and following medical care and advice is a two way street.  Just as we have expectations upon our physicians, they have expectations upon us.  Its important to discuss these with one another and make certain an understanding exists as they are the experts in their field.  Sometimes that understanding can be as simple as, "You are the doctor and I am the patient and I am trusting you to know and learn all you can about Lynch syndrome and protect and treat me to the very best of your ability and I will do whatever you feel is best for me but I need you to communicate with me and tell me what I should do.  I will commit to listening to and following your advice and learn more about my syndrome in order to become more empowered and to achieve a positive and successful recovery."

Our general practitioners will be with us for years and some will care for us during OUR entire lifetimes while others will be with our GPs for THEIR entire careers.  A mutual environment of trust and confidence in one another is essential, due to the long term relationship and the nature of our disease.  The choice of a physician is extremely important to us.

My general practitioner is excellent.  He has a passion for people, for life and for what he does.  With a military background, his training is outstanding. His skills are excellent.  He is a wonderful listener, is positive and full of energy.  He is always prepared and has reviewed my file prior to our appointment, knowing up to the minute what has occurred with treatment with other members of our medical team.

He knows my background, both professionally and personally.  He is aware of the challenges faced in life, of my children, of my husband, of our home and where we have lived.  He is aware of the challenges of treating an independent patient as me and we have an excellent understanding with one another.  He is the expert and his job is to keep me alive.  I am the patient and my job is to follow his instructions, make lifestyle changes and keep my attitude positive in order to allow my body to work within his efforts.  I like and respect him as a person and have the utmost confidence in his abilities.

Life with Lynch syndrome is greatly eased when we are so very fortunate to have an excellent general practitioner-- and one that cares, is passionate, dedicated, committed. competent and blends with our lifestyles.

CHOOSING A SPECIALIST

As mentioned above, we, with Lynch syndrome, need a few specialists in order to survive and in some cases, those of us with Lynch II need more than just a few. We want the best and the most experienced.  The type of specialist we need is dependent upon the type of cancer we sustain.

In looking for a surgeon or a gastroenterologist, don't look for "Mr. or Ms. Warm and Fuzzy."  Look for someone who will tell you the "way it is," and exactly what needs to be done as well as the expectations of you.  Seek out someone who loves their job and has a passion for being the best. Ask your general practitioner for his recommendation of the best specialist for YOU, not simply the "best specialist."

Bedside manner is not the first thing we are seeking or want from a specialist (except perhaps our oncologist, gynecologist and our genetic counselor.)  What we need, with our syndrome, is someone with the the best knowledge and the best skills in detecting and removing cancer.

The Surgeon:

One of the primary specialists many of us will need is a surgeon who will "resect" or remove the cancer and threatened surrounding organs, if they can safely be removed.  In major population centers with a large amount of resources, there are surgeons who are surgical specialists, who have an immense amount of knowledge of a specific organ as a result of their specialty.  They are able to keep on top of the newest means of technology and research discoveries.  Those are the ones we, with Lynch syndrome, need.

Prior to surgery, interview your surgeon.  Verify his experience.  It has been my experience the surgeons which are the best for the resection of gastric cancers are either those who were trained or work in the large cancer centers or, today, the ones who have military experience in the Middle East, treating our soldiers.  The trajectory of IED injuries ordinarily arise from the ground upward, thereby damaging the bowels and the gastric system.  Not only are these physicians adept in colon and gastric surgeries but they are adept in successfully treating trauma situations which may occur during these surgeries.  They are the best. And when it gets down to it, when we get into surgery, we don't want the new kid on the block, despite all his training.

The Gastroenterologist:

Too many individuals put too little emphasis or notice upon their gastroenterologist.  One of the most important physicians in our lives, the gastroenterologist needs to be extremely proficient, with an adept eye to seek out polyps and other anomalies in the colon or the gastric area which are characteristic with Lynch cancers.  The gastroenterologist will also assess the family history, which will determine which tests are necessary for annual surveillance.  He will examine us annually and be consulted if there are any abnormal tests that indicate possible problems in the gastrointestinal areas of our body.  Often our relationships with our gastroenterologist last for years, until the end of our lives or the end of the doctor's career.

Some individuals require an annual endoscopy as a result of a family history of gastric cancers and some have none because their cancers have solely been those of the colon.  What is prescribed is dependent upon the family history so if the gastroenterologist doesn't take a family history or take the time to speak with you, find yourself another.

An excellent example of a follow up examination with a gastroenterologist is as follows:

"We met with our gastroenterologist in the morning as a result of referral from our general practitioner due to rising liver enzyme levels. (Surveillance following colon cancer mets, diagnosed 11/2007) My doctor had updated himself with my medical history the night before.  A chart  of the gastric system was affixed on the wall in front of me.  We discussed the human body and predispositions, conditions and lifestyle choices which could contribute to rising liver enzyme levels, such as fatty liver, diabetes, etc.  A review was conducted of current medications which could escalate the levels.  Diet was discussed, which could aggravate inflammation.  The colon's ability to function effectively was discussed. We discussed the panel of testing conducted by my GP to rule out factors which may cause the elevation of levels. Further testing was discussed, including a prescription for a sonogram and a urine cytology as well as additional testing to rule out one or two other lessor, likely factors. An appointment was set by the physician for the testing and advice given on how to resolve reflux issues.   The physician listened to concerns and examined the abdominal area with palpitations and listening to gastric activity.  One area of pain was attributed to diet creating gas and reflux. Two areas of pain appear to be unrelated to the first and are being explored with further testing.  After being educated and advised of the treatment plan, we left feeling comfortable and confident that no matter what was found, it would be resolved and treated early."

Anyone who has a physician such as that is fortunate.  It is the example of an excellent gastroenterologist who is involved, takes the time to listen to us and explains information to us, allowing us to work on controlling and owning our own cancers.  This is the gastroenterologist one wants when they have Lynch syndrome.

The Gynecologist:

Women will need a good gynecologist or gynecologic oncologist. There are many gynecologists who do not know about Lynch syndrome or its cancers, despite the very high risk of contracting female cancers.  Speak to your general practitioner and ask him to recommend a good one...one that would be desired to treat either the physician herself or the physician's wife. If available, individuals at risk for Lynch syndrome may wish to seek out a women's cancer specialist, a gynecologic oncologist who should and will know the risks of the lynch cancers for women.

The Oncologist:

For those of us Survivors, one of the most important individuals in our lives is our oncologist who will work with us while treating our cancers and who will remain in our lives during the "follow up" stage, for several years after treatment.  The oncologist comes into our life ordinarily following the surgery.

The oncologist is our life line as we go through treatment.  They will order testing to determine if the cancers are being eradicated, prescribe and track our treatments such as chemotherapy and radiation and monitor us, often for many years, following a cancer diagnosis.

An oncologist with an excellent team of oncology professionals; oncological nurses, oncological nurse practitioners and a trained, sensitive staff, is a god send.  Often, treatment time is spent with these individuals and they become a very important part of our lives and a very important part of our chances for survival.  Find an oncological team with whom you are comfortable. 

The Dermatologist:

Muir-Torre is a variant of Lynch syndrome which is characterized by the development of sebaceous adenomas, epitheliomas and carcinomas as well as kercantothomas  (Various tumors upon the skin) as well as the possibility of development of the other Lynch cancers.  It is important to realize skin cancers are a part of Lynch syndrome and to discuss this with our physicians for screening for the presence of these tumors.  It is important to have a good dermatologist who has a knowledge of Lynch syndrome and Lynch related tumors on our team.

A good dermatologist for us, is familiar with Lynch syndrome and Muir Torre, a specific cancer syndrome, consistent with Lynch syndrome.  The dermatologist will assess your family history and scan the body for anything on the skin which appears unusual.  Dependent upon the family history, one may see the dermatologist every six to twelve months.

The Genetic Counselor

This individual is very important in our life as he/she will work with us and assist us in preparing our families for their missions in protecting themselves and their families through diagnosis. 

The genetic counselor will take a family history and determine which tests are necessary to be ordered.  They will explain Lynch syndrome in detail and answer any questions a patient may have about the genetic details of Lynch syndrome, about anti-discrimination laws and be able to give accurate information and facts about Lynch syndrome.

The genetic counselor, most often, will be available to assist in how to notify the family members about Lynch syndrome and be there to answer important questions one may have.

Other Specialists

Lynch syndrome encompasses so many different cancers that many various specialists may be needed, including pediatricians (for the younger survivors) endocrinologists, neurologists, gynecologic oncologists, urologists, specialized radiologists and others.

To find the best specialists who have a strong knowledge of Lynch syndrome, the best approach is to first speak with your GP and ask for his personal referral and with whom he would work best.  With an excellent GP, you can pretty much be assured he will only be referring quality specialists who will focus on providing you with the best of care.

                                                                                Credit:  CDC - Dawn Arlotta  by Cade Martin 2009

"So if there is a purpose to the suffering that is cancer, I think it must be this: it’s meant to improve us." ~  Lance Armstrong

LETS TALK FOOD!

Many studies have been conducted as to defining a proper diet to deter the growth of cancer.  Though Lynch syndrome is hereditary, environmental factors do play into the propensity to contract cancer.  A diet to deter cancer is simply eating good nutritional foods.  It isn't all that different from eating a normal, healthy diet.  It's simply balance.

The reason diet is so significant and plays into creating a predisposition toward cancer is historical.  Accumulating data in respect to cancer is fairly new, as good statistics on cancer incidence have only occurred since 1950, although the oldest cancer registry was established in 1932.  Data on mortality, which goes back much earlier in the developed world indicates stomach cancer has decreased, taking second seat to lung cancer worldwide. However the rise of other cancers have increased, including breast cancer and colon cancers.

Cancer diagnostic technology vastly improved and became more sophisticated, progressing at higher and higher levels through the years. Today, mortality rates have decreased as a result of improved diagnostic knowledge, skill and technology, resulting in earlier diagnoses.  The benefit we have seen from this is the improvement of survival.

Within the United States and the western world, general technology improved during the 1900s, as well, and the world became involved in mass industrialization which put emphasis over quantity of product and created an adverse effect upon the quality of environment, creating problems such as unclean air, mass fuel emissions, polluted waters, polluted soils, etc.

As the age of affluence approached, so developed the age of convenience.  Vehicles became more readily available and less costly. Many families owned several and the family horses were put out to pasture.  As a result, today, many people have stopped walking.  Its not unusual to see them hop into the car and young moms and dads drive five or six blocks to the nearby elementary school several times a day in order to deliver or retrieve their children.  As a result of technology, instead of an everyday necessary activity, as walking once was, exercise has become a "recreational activity" and a luxury only when it can be afforded or....desired.

As the consumer society developed, individuals purchased items that were convenient in nature, including processed foods, foods with chemical additives, non-stick coatings on cooking utensils, items made of plastics, etc.  This love and desire for convenience extended to quick and different food preparation methods including use of the microwave, the outdoor gas barbecue and the creation of chemically improved wood chips to enhance food flavor.  Meats became a staple in homes, used in large quantities, whereas in the past, it was only eaten in small amounts on occasion. The world developed a sweet tooth for items with sugar--sodas were no longer savored "treats" but an everyday drink, rich foods became part of the everyday diet as did artificial sweeteners.  The people of the world took to excesses as competition and products became more and more available and more and more affordable.

We began to become a "feel good" nation which focused on the desires of the individual and not the needs of the person.  The "me society" became one of entitlement and one that was prone to excess...anything, as long as it felt good.  That is where we current are today, destroying ourselves, our environment, our communities and our families unless we find a balance.

During the 1900s, food production became more enhanced to meet the demand of the new consumer society which had developed.  Methods were developed including hormone injections and controlled dietary feeding of animals instead of grazing upon natural forage.  Pesticides, meat additives, artificial preservatives, soil additives, chemically enhanced flavors, water fluoridation and a host of other items were developed to feed into the gluttony of the world.

As a result, we humans began eating differently.  Instead of coming in from the fields or going home for lunch and eating fresh, wholesome foods, we began commuting further distances to work and grabbing quick, convenience items--a bag of chips, processed marshmallow filled cupcakes and a can of soda for lunch or munching on a processed donut while drinking a cup of coffee on our way to work in the mornings.

Not only did food have to taste good but it had to look good.  Dyes were used. Flours became processed and bleached, as did rice, to create a pleasing aesthetic appearance.  Refined sugars were developed with a pretty, sparkling, crystal white appearance, rather than its natural state. The result was individuals were losing a considerable amount of nutrition required to stay healthy and had lost the natural balance of eating.

The world and the human being, in its ever constant pursuit to perfect itself had been poisoning itself. The result was a flurry of studies by medical researchers to find out why people were getting ill and contracting cancers.  Study after study has determined outside influences, such as environment, diet, lifestayle and technology exacts a big effect upon whether or not one will get cancer and the more predisposed we are, the easier it will be to contract.

This becomes obvious with those of us who have Lynch syndrome.  How is it that twenty percent of those who have the mutated gene don't get Lynch cancers while many acquire a myriad of cancers during their lifetimes?  What is the difference between those who have survived a cancer or two and live to old age while others succumb while young?  Clearly something occurs which increases the odds of survival for some and decreases the odds for others.

It appears cancers, including those of Lynch syndrome, may have possibly evolved as a result of the above mentioned factors.

Prior to 1913, a University of Ann Arbor, Michigan professor and pathologist, Dr. Aldred Scott Warthin noted and identified a family that had a "familial cancer."  During treatment of a young woman within the family, he gleaned the members medical histories and in 1913 documented his findings of this fascinating German family.

Within that family, which had been researched back to before the Civil War, it was noted there had been a history of stomach cancer, colon cancer and uterine cancer.  At the age of sixty (60) the first diagnosed died of colon cancer at the age of 56, leaving behind ten children. Three of his five sons and two of his five daughters died of a possible Lynch cancer, the men developing stomach cancers and the women, uterine cancers.

Warthin died by 1936 and had documented 17 individuals from the first two generations of that family had sustained cancers, with an introduction to intestinal cancer in the third generation.  Upon his death, his associates Carl Weller and Jerome Hauser, continued his work, finding far more individuals within the family contracting similar cancers. There was little note of colon cancer.

The third generation, which consisted of seventy individuals indicated only two of those individuals died of stomach cancer, fifteen died of uterine/ endometrial cancer, seven died of colon cancer, three died of rectum cancer and one died of cancer of the intestines.  It appeared the family had evolved during the 20th century and the incidence of stomach cancer had decreased and cancer of the colon had increased.  Finally, in the last generation, Dr. Henry T. Lynch, who had followed this family, following Weller and Hauser, noted the incidence of stomach cancers had dramatically decreased and was almost nonexistent with many of the cancers sustained being replaced by cancers of the colon and the rectum.

We have to ask ourselves why and how the cancers evolved and changed.  Dr. John Potter, MD, PhD, of the Fred Hutchinson Cancer Research Center studied this and published an opinion piece in 2001, entitled "At the interfaces of epidemiology genetics and genomics."

He determined based upon his experiences with Lynch syndrome and study of the family documented above, "High risk variant alleles, (forms of gene ordinarily arising as a result of mutation and causing hereditary variance ) such as MSH2 mutant alleles in HNPCC families, with pleiotropic (multiple) effects across generations of the same family, probably, as a result of changes in environmental exposures."

What environmental factors?  Certainly smoking and diet has played a major role in the evolution of the cancers. In fact, individuals with Lynch syndrome may be at an increased risk for colorectal cancers. As a result of environmental factors, in the U.S., we have noted an increase in cancer.  Interesting to note is this trend is being followed globally as the same sort of evolution of cancers which has occurred here is beginning to occur more widely in some European countries and elsewhere in the world.

It is important we ask ourselves why the risk of contracting cancer for the average male in India is one fifth of that for the average American male? Why has the rate of colon cancer in Japan become the highest in the world and much higher than within the United States? Why do the Chinese have lower rates of colorectal, breast and prostate cancers than we sustain in the U.S., and why are there rising occurrences of these cancers now being observed in their urban areas?  Finally, why do those who consume a Mediterranean diet (lots of fruits, nuts and vegetables and very little red meat) have far less cancer than their American brothers and sisters?

So, what do we do to survive?  We eat an anti-cancer diet, which is basically a balanced diet.  We exercise and protect ourselves by using less chemicals around our homes and yards, engaging in healthy activities and avoiding unhealthy environments.

It has become clear to us that diet, exercise and attitude is a big factor for deterring cancer and perhaps growing and providing our own food sources are far more reliable than those commercially available to us.  Gardening our own food is certainly healthy in it allows fresh air and activity for us.

What is also clear to us is, whether or not we have a predisposition to cancer or whether we get cancer, a big factor in contracting cancer and/or a specific cancer is likely a result of lifestyle, cultural and environmental impacts.  The big question is whether or not we will recognize many cancers are a result of our love and desire for technology, self gratification and convenience and what choices we are going to make in the future in order to protect ourselves and our families.

Cancer came back into my life twice in order for me to understand something, and I guess I still wasn't getting it. And my husband wasn't getting it, either. ~Mariel Hemingway

DIET TIPS

Cancer cells take up more sugar than any other cells in the body.  Consuming sugar doesn't make cancer grow faster, but cancer does feed on glucose as do all tissues that use a lot of energy.

Being predisposed to cancer, we should consider reducing or eliminating refined sugar from the diet in order to deter cancer as well as avoid other disease such as diabetes, etc.  The same is true to high carbohydrate foods, breads, snacks, etc., which revert to sugar in the body.  Studies indicate an impaired glucose metabolism may contribute to pancreatic cancer.  Its much healthier we break our dependence upon sugars and as one very astute Clinician has suggested, "Control the sweet tooth and keep sugar use to a minimum."

Dark chocolate has been considered to be good for us and a deterrent against cancer!  The darker the chocolate, the more antioxidant it contains However caution is recommended. Only the dark chocolates are considered healthy and balance is the key. A good practice is indulgence in moderation...

Limit or eliminate red meats. (The World Cancer Research Fund recommends no more than 18 ounces per week.)  Some studies indicate a reduction of 50% red meat may reduce cancer as much as 50%.  Recommended individual meat portions are the size of a deck of cards (about three ounces.)  Eating meat sparingly as an ingredient and taking it from the center of the plate, rather than as an entree, such as in a beef stroganoff or pastas or soups and stews can help reduce eating meat, painlessly.  We seek organic beef from animals which graze, rather than are fed with filler foods such as corn, etc.  Going vegetarian (pastas, rice dishes, vegetable casseroles, etc., several times a week can make an enormous difference and decrease in risk.

Colorful vegetables are not only pretty but a great addition to an anti-cancer diet.  For maximum effectiveness, briefly cook broccoli, cauliflower and other high fiber vegetables rather than boiling.  Prepare beans, peas, legumes, romaine lettuce, carrots, yams, pumpkins, squash, swiss chard, greens, parsley, celery, and shitake and other Asian mushrooms.

Omega 3's are healthy and include salmon, herring, mackerel and other fatty fish as well as walnuts, canola oil, broccoli, cantaloupe, kidney beans, spinach, grape leaves, Chinese cabbage, cauliflower and flax seed.  These are essential for us to consume on a daily basis.

Rather than eating potatoes as a staple, consider substituting them with yams, sweet potatoes and brown rice more often than not. Potatoes are fine on occasion but all too often we eat them as french fries, or with butter or fatty sauces upon them. Recent studies have evidenced the preparation of the potato can be a problem for those at high risk for cancers and snacks, particularly chips, are particularly a problem.  Moderation and balance are key words in respect to use of potatoes in the diet.  

Consider substituting brown rice for white rice which if eaten in moderation and infrequently can help us with our bodily functions on those special days when we need to use a BRATY diet.  There have recently been article addressing a high level of arsenic in some rice.  

Further, you may wish to consider substituting multi-grain and sourdough breads for white bread and purchase range fed chicken and use butter instead of margarine. A recent study has determined dairy products do not put individuals at high risk for cancers, however there is still concern about the fat content within dairy products perhaps posing a risk.

Having Lynch syndrome and a predisposition to cancer, a low fat diet is essential.  Again, this is an item one may wish to use with moderation. Its been recommended to avoid excess salt and saturated fats. Ir has been long recommended to cook with extra virgin olive oils and canola oils instead of corn oils.

Green tea, dark teas and coffee has been greatly studied and it has been found all of these have a similar set of interesting and possibly useful anti-cancer compounds in them.  A study by Texas A&M conducted on the consumption of coffee indicates a compound known as trigonelline may reduce the risk of contracting colon cancer.  However, there may be a dark side to it for some individuals.  Researchers advise patients facing problems with estrogen dominance and other estrogen related conditions such as breast cancer may wish to avoid consuming the compound as it may increase their levels.  Finally, just recently, a study from Finland of Finns appears contradictory to the study by Texas A&M indicating heavy coffee comsumption indicates no benefit for the Finns, whatsoever, from drinking coffee.  

To spice foods, you may wish to use rosemary, turmeric, ginger, thyme, mint, anise, camphor, fennel and allium.  (Some advocate to add black pepper and olive oil to the turmeric as it is felt pepper is needed to interact with the positive qualities. This may be true, but the evidence is slight.) Eating lots of garlic, onions and tomatoes is said t be very healthy. The National Institute of Health recognizes garlic as having anti-cancer properties as well as pomegranates, red grapes, strawberries, blueberries, raspberries, apples, pears, plums and prunes as they are considered excellent anti-cancer fruits. Actually any and all fruit is good for us!

Strongly consider avoiding processed and prepared foods.  Afterall, it only takes about two minutes more to prepare homemade salad dressings, mayonnaise, mustard, etc., and they taste so much better without the high amounts of sodium, the chemicals and the preservatives prepared items have. Recipes for homemade preparation of condiments are abundant on the internet.

Bagels, pastries, sodas, chips and basic junk foods aren't all that healthy for us. Filler foods are not only not all that nutritious in value but many have additives and chemicals which are not natural.

We're now free to toss away that collection of vitamins which clutter the kitchen counters.  Studies indicate if one isn't deficient in those vitamins, they don't do any good.  Multivitamins show no benefit and are simply profit making products for drug companies.  We already get our Omega 3s from food and your Vitamin D from a little bit of sunshine.

Finally, a bit of diversity is always good for an open mind, open heart and cancer free life. Incorporate evening meals, each week, to include basic Mediterranean foods, Asian foods, food from India, seafood and simply homemade soups and salads.  Experiencing diversity with foods is not only fun and wonderfully tasty, but could be life changing and life saving.

The internet is full of tips on how to protect one's self from cancer however before taking anything, be sure and discuss it with your physician to make certain it will not harm you or interfere with your treatment.  Don't let that supplement sales person sell you anything until it is discussed with your doctor.

A few other health tips we've found:

Discuss with your doctor, taking aspirin, as a cancer deterrent. Studies indicate it acts as a deterrent against colon cancer, especially in those affected by Lynch syndrome.  

Studies have recently indicated the sun is great for us as a major contributor of Vitamin D within our body!  A new study released January of 2010 indicated of 1248 patients, those with the highest blood levels of vitamin D had a 40% lessor risk of contracting cancer than those with lessor levels.  Of course, more studies need to be completed.  In respect to taking Vitamin D supplements, long termed adverse effects are not known if Vitamin D taken in high doses. However, it does appear Vitamin D, obtained from foods and the sun, is extremely good for us and may be a deterrent against cancer.  Grab your sun screen and head outside every day to take in a few rays!  However, while Vitamin D is helpful in alleviating some cancers, a recent study indicates it does little for lessor known cancers. So, sunshine may help alleviate colon cancer, however may do little for other cancers.  One thing we do know...it does lift spirits and makes the day brighter!

Over the years, there's been a little secret few individuals have known about--a product called Sun's Soup, made of vegetables which may inhibit cancer growth. Studies have and are being conducted of it and its properties and it has been found to slow the growth of cancer tumors in mice. It may be something to think about after it has been closely studied.

We need to be cautious with what we read in "studies," taking into consideration the population studied, including lifestyles, environment, ethnic diversity and many other differences between culture and societies.  Studies are simply a silhouette of conditions which exist in a specific place, at a specific time, with a specific group of people. A good place to find out if that food or supplement is good for us, check with the NIH first, who studies not only top technological treatments but natural treatments, foods and claims of cancer deterents. They have a great search engine, where you can simply put in the item and read the recent  U.S. and internationally collaborated governmental research on it. 

Bottom line is we know fresh foods are good for us...we know balance and moderation with eating, as well as in life, is important.  If it looks healthy, tastes healthy and feels healthy...its probably healthy for us.

Finally, this guy has some great tips for healthy living to deter cancer...it's well worth reading!

With gratitude to Dr. John Potter of the Fred Hutchinson Cancer Research Center, Seattle, Washington, for his very patient and lifesaving lessons in the importance of diet and exercise, "anti-cancer style" and MD Anderson Cancer Center for their terrific tips!

Revised 10/22/2012

One must not forget that recovery is brought about not by the physician, but by the sick man himself. He heals himself, by his own power, exactly as he walks by means of his own power, or eats, or thinks, breathes or sleeps.

~George Groddeck

Exercise

Study after study has exalted the power of exercise for individuals who have been diagnosed with cancer.  Exercise is key to survival and longevity in life.

Cancer treatment can be devastating to the normal functions of our bodies, wasting muscles and weakening us.  Exercise keeps the muscles working and the body flowing in rhythm with itself, much the same as the inner workings of a clock.  Everything operates in sync with one another and we keep ticking!

When we exercise, it eliminates a number of the short and long term side effects from treatment and deters the growth of new cancers.

• It helps us rest and sleep better, allowing our bodies to repair themselves without distraction.
• It reduces fatigue.
• It repairs muscular deficiencies.
• It keeps us flexible and enhances dexterity and balance.
• It cleanses our bodies of unwanted toxins.
• It increases strength and muscle tone.
• It supplies oxygen to the body, the brain, the cells and the blood, enabling them to ward off cancers and enhances resistance.
• It reduces blood sugars upon which cancers thrive.
• It makes us feel good!

Psychologically, exercise has its benefits:

• It helps us relax and minimizes stress.
• It elevates our moods.
• It induces a sense of empowerment and reduces the feeling of vulnerability.
• It makes us strong and confident, thus instilling hope.

Each of us could come up with several dozen excuses not to exercise but that takes as much energy as exercise takes.  Rationalizing reasons not to exercise is pretty counter productive.  Further, its conflicts with the rest of our character which advocates we CAN acheive anything we set our mind to acheive, including survival.

With that in mind, it basically comes down to "where do we start?"  And the answer to that is very easy...all we have to do is look deep into ourselves, reflect to the past, think about applying it to the present and simply doing it, in the future.

Close your eyes and take yourself back to when you were eighteen years old.  Its Saturday morning, the sun is shining and you were eager to leap out of bed and do.....what?  Was it play tennis, go swimming, hike, walk around town with your friends, roller skate, ice skate, ski, run, dance?  Did you go bowling, ride a horse, ride a bicycle, go sailing, canoe?  Did you go to work and buck hay or stack boxes or ride the surf on a surfboard or boogie board? Was it sledding or enjoying the smells of autumn while raking leaves?

When did we lose our passions to do those things?  Life is full of adventures and we'll only find them if we get up off our couches or easy chairs and get out into the world.  Relive your youth and do all the things you loved doing.

Exercise doesn't have to be boring...it can be fun and educational.  Grab a basketball andput the kids or the grand kids to shame by showing off your skills and tossing a few buckets!  Listen to beautiful music and dance with a friend on the back lawn, under the stars.  Dust off that mitt and race out to catch a few fly balls or attach that leash to the collar of the dog and take him to the park where you can play ball together.

Life is about people and relationships and exercise can be a lot of fun...in fact too much fun to do alone.  Grab your friends, members of your family or fellow survivors and jump into it!

Almost everything in life involves exercise and activity...its just a matter of getting out there!

Oh, by the way, if you don't like this message, then go fly a kite, jump in a lake, take a hike.  Just do something that gets you moving!

CHEMOTHERAPY AND SKIN

Chemotherapy often results in the flakiness, itchiness, drying, cracking and peeling of skin.

While undergoing chemotherapy, it is best to use a simple, high quality, gentle moisturizer on the face and neck, stay hydrated, drink lots of juices containing antioxidants and avoid prolonged exposure to extreme weather conditions (either too hot or too cold.)

When bathing, make certain water isn't too hot (or too cold.) Following bathing, it helps to dry off gently, patting one's self with a towel, rather than rubbing.  Baby oil is excellent to rub into the skin to revive moisture.  Use mild soaps and laundry detergents to avoid aggravating skin conditions and avoid perfumes with scents.  If bathing becomes painful, sponge bathing is an option.

Lips often become chapped and chaffed and a good lip moisturizer is a Godsend.  Add a good skin treatment moisturizer, such as Aveeno to a tepid bath to alleviate dryness and pain.  Cool wet cloths can also be used to help alleviate pain.

Avoid tanning beds and don't use cosmetics or skin items that have alcohol as an active ingredient.  Alcohol is a drying agent and can aggravate inflammation.

During chemotherapy, skin may appear more transparent and wrinkles and dark spots may appear.  Most of this disappears following completion of chemotherapy, during the months following when the chemical effects dissipate from the body.  Your doctor can prescribe ointments which will remove dark spotting.

Its at this time, that the skin is very sensitive to sunlight, so while undergoing chemotherapy, keep your body covered. It doesn't mean you can't go out into the sun...sunlight is vital and is an important source of very badly needed Vitamin D.  Just remember the skin is very susceptible to burning, so make certain to protect it with sunscreen.

Neuropathy, a side effect from some chemotherapy treatments, causes damage to nerve endings and when serious, can cause sloughing of the skin from the hands, lower legs and the feet. Report this to your doctor immediately, if it occurs.  Gently massage the effected area with creams.  Keep feet clean and covered with warm socks.

Any major skin changes need to be reported to your doctor immediately as they could create lifelong damage.

CHEMOTHERAPY AND HAIR

Some chemotherapy treatments create a thinning to the hair and cause it to be dry and brittle.

Frequent shampooing is very hard on damaged hair.  To compensate, use a gentle shampoo such as a baby shampoo and reduce of times you shampoo per week to no more than three.  Allow the hair to dry by gently patting it with a towel and if at all possible don't use the blow dryer, hair straightener or curling iron.  They are very harsh on hairs.

If the hair isn't falling out, then there is no problem using hair products, however if it is damaged, its not a good practice and only aggravates the problem.

Perms and hair coloring are not recommended during chemotherapy for at least six weeks following, because of potential scalp and skin irritations.  Chemotherapy affects the root follicles and its not known what the results of perming or coloring of hair could be as the interaction of chemicals could create anything from hair loss to fried, brittle hair, to some interesting colors and waves.

If it appears you may lose your hair, it is easiest to cut the hair short during the process.  You won't wake up in the morning with hair in your mouth or the devastation of seeing clumps of hair laying on the bottom of the shower or floating in the tub.  For emotional sanity, cutting it short is sometimes best. If hair loss has occurred, when outdoors, its best to wear a head covering in the sun and to use sunscreen to avoid sun burn upon the scalp.

There are some interventions some individuals use to try to deter hair loss, while going through chemotherapy.  Be sure and discuss these with your oncologist before attempting:

1.  Some individuals place cold packs upon their head while taking chemotherapy to slow the flow of blood to the follicles so chemotherapy won't destroy the roots of the hair.  The problem with this is the chemotherapy drugs may not reach all the cancers if they are in that specific area , so do not even attempt this without discussing it with your oncologist first.

2.Some individuals use medications marketed for male pattern baldness.  There is no evidence these products work and the concern is they may interact in a negative manner with chemotherapy.  Before considering this, be sure and speak with your oncologist.

Bottom line is we may just need to suck this up and view it as one of the little inconveniences we go through in our quest for life as we define and ask ourselves, "Which is really more important?  Life and the temporary loss of hair or the alternative?   In that context, it really isn't much of an issue, is it?  So, in the grand scheme of it all, "Hair grows back...life goes on...life is good!"

Chemotherapy and Nails:

Chemotherapy plays havoc with nails.  Often, while undergoing chemotherapy, they will be brittle, won't grow as long and surrounding skin will be dry.  They may be discolored and break easily.

It is not a good idea to cover nails as it may result in creating an environment that may invite fungus or other problems.  Its best to wait to have nail treatments such as wraps and acrylics done several months following chemotherapy, after it has dissipated from the body as they can often harbor and trap bacteria, leading to infection.

While undergoing chemotherapy, you may notice a line develop across the nail.  This will disappear after chemo leaves your body, following treatment.  If nails are not cracked or broken, its probably okay to paint your nails as long as the nail remover doesn't have acetone as an active ingredient. Acetone can be pretty harsh on fragile nails.

It is easiest to simply keep nails clean, trimmed and short and to use a good hand cream to retain moisture in the skin.

ANTI-DISCRIMINATION

State and federal laws exist which prohibit discrimination against individuals with disabilities, including cancers, California having one of the strongest laws in the nation.  Further, federal law has recently expanded to include anti-discrimination laws based upon one's genetic history with legislation known as GINA, the Genetic Information Nondiscrimination Act of 2008, signed into law by President George W. Bush.  It is the first act of federal legislation to protect individuals from discrimination.  Though imperfect, it is a start to resolve issues with insurance companies and employees which create barriers toward testing.

The basic rule is unless one actually has contracted a cancer, discrimination is prohibited by all except for life insurance companies, disability insurance carriers, long termed insurance carriers and the United States military.

There is no protection for individuals who have contracted a cancer, under GINA, however ADA laws may apply for discrimination in the workplace.

Information on current federal anti-discrimination genetic information laws.

Information on the American Disabilities Act and enforcement guidelines

Reports on Genetic Discrimination

Article on GINA

If you have questions regarding discrimination or sustain difficulties with insurance companies and coverage, there is help through the Cancer Legal Resource Center in Los Angeles.

The Cancer Legal Resource Center (CLRC) is a national, joint program of the Disability Rights Legal Center and Loyola Law School Los Angeles. The CLRC provides free and confidential information and resources on cancer-related legal issues to cancer survivors, caregivers, health care professionals, employers, and others coping with cancer.

A cancer diagnosis can carry with it a variety of legal issues, including insurance coverage, employment discrimination, access to health care, and estate planning. These legal issues can cause people unnecessary worry, confusion, and stress, and can be overwhelming. When these legal issues are not addressed, people may find that although they have gotten through treatment, they have lost their homes, jobs or insurance.

The CLRC has a national, toll-free Telephone Assistance Line (866-THE-CLRC) where callers can receive free and confidential information about relevant laws and resources for their particular situation. Members of the CLRC's Professional Panel of volunteer attorneys, insurance agents, and accountants can provide more in-depth information and counsel to CLRC callers.
 

During chemo, you're more tired than you've ever been. It's like a cloud passing over the sun, and suddenly you're out. You don't know how you'll answer the door when your groceries are delivered. But you also find that you're stronger than you've ever been. You're clear. Your mortality is at optimal distance, not up so close that it obscures everything else, but close enough to give you depth perception. Previously, it has taken you weeks, months, or years to discover the meaning of an experience. Now it's instantaneous.

~Melissa Bank
 

MANAGING TREATMENT

This page is primarily links, deferring to other sites, as there is such excellent detailed information on those sites.  Please don't hesitate to contact us with any questions you may have, by writing info@lynchcancers.com and we will try to find the information you desire.

While going through chemotherapy, side effects often occur.  It is important to keep our immune system strong so we don't catch illnesses and viruses which can affect us and our treatment.

Treatment Options (An excellent article which discusses chemotherapy, radiation and other types of treatment for cancer.

Managing Side Effects (A very comprehensive article with many tips on how to overcome the side effects of some treatments.)

Managing Fatigue  --  and the Myths and Facts About Cancer Fatigue and What You Need To Know

Managing Neuropathy Neuropathy is a common side effect that is often included as part of today's chemotherapy treatments for colon cancer.  With it comes temperature intolerance, pains in the hands, fingers, feet and legs, tingling sensations, numbing sensations, loss of balance and other possible effects.  If it becomes difficult for you, be sure and discuss it with your oncologist who can adjust the dosage of chemotherapy or find an alternative treatment.

Eating Hints Excellent ideas and types of foods that help alleviate nausea.  The biggest bit of advice we found valuable in dealing with nausea was to take the anti-nausea medication prescribed by the physician about two hours before arising, with a piece of toast and a few sips of tea, water or juice.  This prepares the stomach for the daily activity and then when getting up, go ahead and eat.  Again, take the medication about thirty to sixty minutes before dinner and do so at the same time every day.  Scheduling is everything and can help many in a dramatic way for many, if effective planning is conducted.

Chemobrain Chemical brain is one of the most frustrating side effects for active individuals.  This article helps explain what it is and why it happens alleviating fear and concern of its existence.

In order to attempt to control it, many of us play word games to keep the mind vital and busy and do our busy work in the mornings when we need to be fresh in thought. We don't know if this works, but it certainly does provide some reassurance.

The loss of memory can be frightening.  Remember, much of the effects of "chemo brain" disappear within the first year following completion of treatment and almost all go away.  If a lapse of memory occurs or you experience difficulty with navigation, comprehending directions, etc., simply stop, take a deep breath and relax.  What it is you are searching for in your mind will come in most cases...for those of us with chemo brain it just takes a little longer than usual for the memory to function.

Sometimes its easy to set ourselves up for frustration. This is one of those situations where it is ripe to occur. So, try to find ways to lessen the opportunity.  In example, when undergoing chemotherapy sometimes its difficult to follow a movie.  So, watch a television show.  The sequences are shorter and the plots aren't as complicated.  Sometimes reading is difficult. Try reading a few paragraphs at a time and then take a rest, returning to it when the mind refreshes itself.

Don't let chemobrain embarrass you or feel uncomfortable about interacting with others as a result of it. Most people understand chemobrain, especially after it is explained as a temporary side of effect of chemotherapy.  During conversation if you lose the conversation halfway through, apologize and explain you have chemobrain. They'll understand and most often, will help you find the words you need if you give them a definition.

Try and stay away from situations involving stress or conflict.  Chemobrain can occur during those times and that is another time which is ripe for frustration.  The last thing any of us, who are fighting cancers need, is undue stress, frustration or negativity in our lives.  We have choices and the best choice is to stay away from it.  There isn't time for it in our lives.

Nutrition

Prophylactic Surgery to Deter Cancer Surgery to remove tumors and to remove organs which have been attacked by cancers is a common treatment.  It is suggested prophylactic surgery be conducted for the removal of the uterus and the ovaries, following childbearing years due to the extremely high risk of cancer for those who have Lynch syndrome.  The Mayo Clinic has come up with a new surgery, for colon resection, which at the same time, can also remove the female organs, without having to make a major external incision.  This is fascinating new technology which accelerates the rate of recovery for individuals, called natural orifice surgery.

Presentation on Colon Resection

Understanding Cancer Treatment

Women face additional risks of contracting cancer as a result of having Lynch syndrome, including an extremely high risk of endometrial cancer.  Endometrial cancer may be far more prevalent than previously thought and ongoing research is studying the prevalence. As well, women face an approximate 12% lifetime  risk of contracting ovarian cancer, which often appears symptomless and is difficult to diagnose at an early stage.

Breast cancer has been identified as an integral component of LS, based upon mismatch repair germline mutation factors in breast cancer tissues from family members who are not only at high risk, but, moreover, who had Lynch syndrome cancers, such as involving the colorectum.  Breast cancer is exceedingly common in the population and, therein, its occurence in Lynch syndrome families could be due to chance, but importantly, a subset will likely be integrally related to a germline mismatch repair Lynch syndrome mutation in some LS families.  Therefore, it is prudent to mount a screening and management program for Lynch syndrome in those families where breast cancer is believed to be an integral lesion. (For more on breast cancer, visit the LSI Library for the up to date studies)

Due to this, it is extremely important women consult with their gynecologist and schedule annual gynecological surveillance screenings, beginning between the ages of thirty to thirty five years of age. In addition to the annual PAP smear, the examinations should include:

• A pelvic exam;
• An endometrial biopsy;
• A vaginal ultrasound;
• A CA-125 blood test;
• Annual PAP smears;
• Annual mammograms;
• And if a family history of breast cancer exists, discussion with your physician as to whether an additional screening method is necessary.

Research into Lynch syndrome is relatively new and in the past there were not yet enough studies to determine evidence of the effectiveness or screenings.  In 2012, NCCN guidelines  were developed for Lynch syndrome uterine and ovarian cancer risks.  These can be located at www.nccn.org.

Australian and other international studies have explored the possibility of an association between Lynch syndrome and cervical cancer.  The jury is out as to whether or not there is a direct association and/or the extent of that association.  It is prudent to obtain annual PAP tests to insure early detection even if you have undergone a total hysterectomy with salpingo oopherectomy.  

Forewarned is forearmed and in order to protect one's self, discuss creating an annual screening management program with your gynecologist.  For more detailed information on women's cancers and the women's risk, MD Anderson has outstanding resources upon their website.  Additionally, studies regarding Lynch syndrome women's cancers are available upon this site, under the LSI Library.

Following child-bearing years, to reduce the risks of uterine and ovarian cancers, women with Lynch syndrome should seriously consider prophylactic (preventative) surgery to reduce the high risk of contracting endometrial and ovarian cancer.  This is especially important as often there are few or no symptoms of gynecological cancers and screening tests are not all that accurate in detecting women's cancers at an early stage.  

The standard procedure utilized is referred to as a full abdominal hysterectomy with bilateral salpingo-oopherectomy (removal of the uterus, cervix, ovaries and fallopian tubes). As a result of modern technology, the surgery today is much easier for recovery and sometimes hospital stays are as short as 5 hours. Nonetheless, it is important to realize it is still a serious surgery and full recovery takes months.

Prophylactic surgery, recommended following child bearing years, is often a "win-win" situation, protecting us from Lynch cancers and saving many women the "misery" of having to endure perimenopause, that up to ten year period of time prior to completion of menopause.

THE SURGICAL PROCESS

Over 600,000 hysterectomies are performed each year and by the age of sixty, one in every three women, in the United States, has undergone hysterectomy.  Almost 90% of all the surgeries are elective (chosen) procedures, rather than lifesaving procedures.  A common practice, the majority of surgeons who perform hysterectomies are pretty experienced.

RECOMMENDED SCREENING FOR LYNCH SYNDROME CANCERS

Colonoscopy: Annually, beginning at age 20-25, or ten years younger than the earliest age of diagnosis in the family, whichever comes first. NCCN guidelines (NCCN Version 2.2011) state two to five years prior to the earliest age of diagnosis in the family, if under the age of 25 and to repeat every 1-2 years.

Endometrial Sampling: Annually, beginning between ages 30-35 

NCCN Guidelines reflect despite no current scientific evidence, annual endometrial samplings may be useful in select patients. (NCCN Version 2/2011)

Transvaginal Ultrasound: For Endometrial and Ovarian Cancer: Annually beginning ages 30-35 NCCN guidelines determine this is at the clinician's discretion.

CA-125: For Ovarian Cancer. While there may be times screening can be helpful, NCCN has determined data does not support routine ovarian screening for LS. (NCCN Version 2/2011) 

Ultrasonography With Cytology: Annually, beginning at age 25-35  (NCCN Guidelines, Version 2.2011 refer to an "annual urinalysis.")

Gastroscopy: Especially for individuals with family history of Lynch gastric cancers. NCCN guidelines recommends for consideration of gastric and small bowel cancer screening, an EGD with extended duodenoscopy (to distal duodenum or into the jejunum) and polypectomy every 2-3 years beginning at the age of 30-35. 

Other screenings may be considered including baseline gastric biopsies to evaluate chronic inflammation, atrophic gastropathy, and intestinal metaplasia and consider shorter screening intervals in persons with normal histology.  Evaluate for H. Pylori on the biopsies and by serology and treat those with evidence of infection.  Consider enteroscopy at the time of the EGD to evaluate the distal duodenum and jejunum. 

Consider capsule endoscopy for small bowel cancer at 2-3 year intervals beginning at age 30-35.

Examination and Review: Family History Review, Discussion of LS - Annually

Colon Resection: For individuals with active colon cancer that cannot be removed by colonoscopy. Subtotal colectomy favored with preferences of patient actively elicited. The National Comprehensive Cancer Center Guidelines recommend a total abdominal colectomy with ileorectal anastomosis in the event of adenomas not amenable to endoscopic rescection. (NCCN Guidelines Version 2.2011)

Hysterectomy and/or Oopherectomy: Discuss as an option after childbearing years to deter the high risk of gynecological cancers.

Dermatological Examination:  For Muir-Torre (lesions of the skin including sebaceous adenomas, sebaceous epitheliomas, basal cell epithelioma with sebaceous differentiation, sebaceous carcinoma and squamous cell cancer (keratoacanthoma type.)

Other tests may be ordered at the discretion of the Clinician to include screenings for pancreatic cancer, CNS cancer, prostate cancer, liver cancer, gallbladder cancer and renal-pelvic cancer.

Updated:  7/19/2012

GENETIC TESTING

The majority of cancers are "sporadic."  This means they are the result of environmental exposures or possible random events within a cell.  Therefore, these cancers are genetic, however they are not hereditary.

Familial and hereditary cancers are thought to consist of 35% of all colorectal cancers and a significant portion of other cancers.

A familial cancer is a hereditary cancer that may be due to shared environmental or lifestyle factors.  

Hereditary cancers, such as Lynch syndrome, result from an inherited gene mutation or variant that is present in every cell and can be passed onto the children.  

Lynch syndrome is the result of a mutated gene. To make sense of this, we need to think of the composition of our bodies, which are made of millions of cells.   

Each of these cells has 23 pairs of chromosomes and within the chromosomes are genes.  These genes are lined up on the chromosomes in a very specific manner.  When a gene is not normal or when some chromosomes are forgotten or duplicated, defects in the body or within its system can occur, some of which can be mild defects or some as serious as Lynch syndrome. In those of us who have Lynch syndrome, a gene stopped working that usually works to prevent colon, endometrial and other Lynch cancers.  Therefore, the cancers are likely to develop...and at a younger age.

There are four common basic mutations known to date, including MLH1, MSH2, MSH6 and PMS2, as well as a few lesser known.  These genes are involved in repairing mistakes in DNA which may occur when the cell goes through the division process.  Mistakes in DNA can occur due to environmental factors (i.e., exposure to chemicals, drinking impure water, etc.)  however environmental mistakes do not ordinarily create inherited cancers. 

Epcam deletions can create Lynch syndrome.  The EPCAM gene is a recently discovered contributor to Lynch syndrome, accounting for an estimated 1-3% of all detectable Lynch syndrome mutations.  Studies indicate that large deletions in the end of this gene can lead to a loss of MSH2 expression and result in Lynch syndrome. 

With the exception of the environmental mutations and one percent of those with Lynch syndrome possessing what is known as a "de novo" mutation (meaning new and not known previously in which no known family members have/had Lynch syndrome), all other mutations are hereditary and are created by germline mutations, or rather those created during the reproduction process (in the egg or in the sperm.)

Lynch syndrome cancers are extremely aggressive and don't have the extended "dwell time" (time tumors live and exist in the body until becoming cancerous) as other cancers, thus the reason it is very important to obtain regular surveillance testing. 

Currently, there is no cure, however researchers are working feverishly in an attempt to find a way to neutralize the "rogue genes."  Technology is being explored which will work sort of like an automobile gas pedal...as the gas is pressed which creates the acceleration of the cancer formation, the brake is pressed at the same time, so the vehicle will not move forward or backward.  Of course, this technology, if possible, is many years away and in the absence of a cure, the closest thing to it is genetic testing.

Genetic testing is essential toward survival.  With diagnosis, individuals can obtain yearly surveillance testing during which time if pre-cancerous or cancerous polyps are discovered, they can easily be removed at an early stage-- when treatment is most effective. Without early prevention, individuals develop cancers at an aggressive rate and with metastases, survival becomes more difficult.

A genetic test is ordinarily taken from a standard blood or saliva sample, which is processed within a clinical laboratory.  A positive result for Lynch syndrome (HNPCC) makes one a "mutation carrier" and not only diagnoses an individual with Lynch syndrome but also serves as verification of having an increased risk for cancer. That risk is then monitored by one's health provider with surveillance measures and an annual testing regiment.

If there is a mutation which has previously been identified within the family and the test result of that specific mutation comes out negative, then it is determined one has no increased cancer risk and the individual does not have a mutated gene.  Any and all cancer screening will be based upon the same screening given the general public.

If a mutation has not been previously identified in the family and a comprehensive panel has not identified a mutation, then it is determined that a cancer risk is not fully defined and is unknown.  As a result, based on the personal and family history of cancer, medical management for screening and surveillance will be determined.

Most individuals who are diagnosed with Lynch syndrome, by genetic testing, sing praises as to the benefits.  Not only are they monitored closely by medical professionals, their families also have an opportunity to be protected and to live longer lives.

Psychologically and emotionally, changes occur within those who test positively.  The "unknown family cancer thing" suddenly has a name and there is hope and empowerment in being able to control it.  The wait is over and stress and anxiety is relieved.

For some, it is a relief.  For others, it is bittersweet.  And for some, testing does have its limitations and isn't perfect.  Not all causes of hereditary cancer can be detected and though a negative result is extremely helpful when there is a known mutation in the family (thus being a true negative,) there is always the fear the negative may not truly mean "negative" in the absence of a family mutation.  In that case, the uncertainty will continue to exist, however if one meets the criteria for Lynch syndrome, they can and should receive annual screenings for cancer, the same as an individual who has been diagnosed with a known mutation.  Finally, testing has not fully evolved and there are other genes out there that have yet to be discovered, as well as variants continuing to be discovered.

So, dependent upon your family history, your needs and understanding of genetic testing, its important to speak with your genetic counselor and your health care provider to determine if testing is good for you and for your family.

According to the National Cancer Institute,  general population studies have indicated the majority of individuals, internationally, are not adverse to genetic testing for hereditary cancers but more concerned as to whether or not treatment for the hereditary condition would be available.  For resources where to obtain low cost or no cost treatment for those without insurance, view the link marked "Support" to your left and scroll down to the country or state in which you reside.

Study results also indicate a primary motivation for individuals submitting to genetic testing is a concern and a desire to provide protection for their children and loved ones, as well as the ability to reasonably determine for themselves what could occur in the future-- in order to make decisions as whether or not to bear children, engage in certain occupations, determine where to reside and in making other major lifestyle choices.

With enhanced surveillance and known successful treatment methods, hope has never been greater than it is today, for individuals with Lynch syndrome and with genetic testing, individuals have all the tools they need for an enhanced quality of life.

To learn more about whether or not one is at risk, MD Anderson has an excellent overview available.

MSI/IHC TESTING

The microsatellite instability (MSI) test and the IHC test are pathology procedures performed upon the tissue of a tumor, from an individual who has already contracted cancer.  These are conducted to determine if the tumor has specific characteristics known to Lynch syndrome tumors and can identify specific genes which may suggest the possibility of Lynch syndrome.

Genetic testing is then recommended if a possibility of the existence of the Lynch syndrome occurs.

Several top research institutions in the United States have determined pathological  testing of colon cancer tumors to be cost effective.  There are many institutions testing every colon tumor with the above testing process.  Many experts recommend this process and there are many that also recommend the testing of all endometrial cancer tumors, as well.

QUICK FACTS

• Approximately 10% of all cancers are hereditary.
• Approximately 145,000 people per year get colon cancer and approximately one in every 35, have Lynch syndrome.
• It is estimated by Johns Hopkins that 600,000 individuals, within the United States, are projected to have Lynch syndrome, however less than 5% of that number have been diagnosed.  Other institutions estimate the number of those thought to be affected to be much higher.
• The only true form of diagnosis of Lynch syndrome is through genetic testing.
• Genetic testing saves lives.

LYNCH CANCERS LIFETIME RISK

• Colon Cancer - Up to 80%            General Population 2%
• Endometrial Cancer - Up to 60%    General Population 1%
• Stomach -  Up to 13%                 General Population - 1%
• Ovarian - Up to 12%                    General Population 1%

Those diagnosed with Lynch syndrome have a slightly elevated risk over the general population of developing cancers of the kidney/urinary tract, brain, small intestine, cervix, liver, bladder, ureter, esophagus, small bowel, pancreas, hepatobiliary tract, prostate, gall bladder duct, may contract sebaceous adenomas (skin cancers - Muir Torre) and cancer of the brain.  There are also lessor known cancers which have been discovered during research studies and thought to be as a result of the Lynch syndrome, such as sarcomas, adrenal gland tumors, thyroid tumors and other cancers.

If your family has a history of these cancers, be certain to document the specifics and speak with your physician.

THE GENETIC COUNSELOR

The genetic counselor plays an important role in the lives of those with Lynch syndrome.  Having considerable education and knowledge of genetic conditions, they can provide us with an explanation of how and why we are at risk for Lynch syndrome as well as provide information on risk to our families.

Genetics is complicated and with a syndrome that possesses over 1100 variants, as Lynch syndrome, it is important to provide your physician with all the information you can find on your family history.  The physician will assess it and most likely refer you to a genetic counselor.

Genetic counselors are few and far between and there are far too many of them for the numbers of individuals who are now being screened for genetic conditions.  Advocacy needs to stand up and encourage public awareness of the occupation and recruitment into schools that offer a Masters program in genetic counseling.  As well, advocacy needs to lobby for financial assistance to obtain more genetic counselors so individuals can take advantage of the opportunities and benefits they offer.

Finding a genetic counselor in small states or rural areas may be difficult.  In that situation, hopefully, the physician will take advantage of the many excellent genetic counselors that are offered as a service by commercial testing laboratories.  Some of those companies offer the ability  to speak directly with genetic counselors who can provide the necessary information for physicians, in order to provide effective testing.

If you have difficulty finding a genetic counselor who can provide services within a reasonable amount of time, please call us at 707-689-5089 and we will be more than happy to assist with attempting to find effective, timely, genetic testing services.

Genetic testing provides us with the knowledge  to make effective decisions for ourselves and our families in the future. Knowledge is power.  If we know we are at high risk for something which may very well adversely affect us and our children in the future, we have the ability to attempt to protect ourselves. 

HOW TO LOCATE A GENETIC COUNSELOR:

National Society of Genetic Counselors

GeneClinics

American Society of Human Genetics

Genetic Alliance

Modified 9/4/2012

Thank you for considering donating to LSI.

Lynch Syndrome International is a 501 (c)(3) public charity, IRS Tax ID 27-0571530. All donations are tax-deductible as allowed by law.

LSI is an all volunteer organization and no person involved with it is compensated for their good efforts. As such, our operational costs are minimal and all donations are utilized toward project based efforts. One hundred percent of donated funds are utilized toward LSI targeted projects and basic operating costs. Ten percent of all general donations received is targeted toward assistance in financing research endeavors and ten percent of all non-targeted contributions is directed toward providing financial assistance for patients. The remaining funding goes toward our public awareness projects, including Lynch Syndrome Hereditary Cancer Public Awareness Day each March 22nd of each year, providing tens of thousands of physicians with information on Lynch syndrome each year, exhibiting at trade shows, working with organizations and coalitions to promote Lynch syndrome awareness and education, sponsoring Lynch syndrome events through the country and across the globe, distribution of publications, creation and distribution of radio spots, recruiting for Lynch syndrome clinical trials and advocating for hereditary cancers with state and federal lawmakers.

In order to stretch every dollar received, we operate on a shoe string and are truly depression proof.  In lieu of paying the over $200,000 cost of maintaining a headquarters, expensive insurances and benefits, staffing and other overhead, we work off modern technology, receiving our software for meetings, communication and conferencing from in-kind donations or though nonprofit donation services. We strongly rely upon in-kind donations for operational cost line items and for conversion into cash, such as our Ebay auctions.

Currently, approximately ninety (5%) percent of our cash funding is derived from the generosity and passionate commitment of members of our Board of Directors. Approximately 85% comes from our base of those affected by Lynch syndrome and 10% from corporate sponsorship. We anticipate this to dramatically change in the future as corporate and civic groups have begun to embrace us, during our fourth year of operation.

Every dollar counts! Each is the equivalent of nine brochures. $50 is the equivalent of 500 brochures, one of which most likely will reach a Lynch syndrome family and perhaps save five to ten lives from inherited cancers.

LSI operates as a true nonprofit, in every sense of the word and our success is directly attributed to the outstanding volunteers who are passionate in working with us, in a grassroots manner, throughout the world.

HOW TO GIVE

Lynch Syndrome International utilizes JUSTGIVE.ORG, a nonprofit organization, to process all our online and credit card donations. It is a fast and user friendly process to contribute toward a very worth cause that will protect families and save lives. Simply click on the green link below.

We also utilize Paypal.

Another method for contribution is through www.igive.com. This occurs by utilizing merchants, nationwide, who will donate a certain percentage of what is spent to LSI. We encourage individuals to consider this by simply registering with them and shopping with their online merchants.

If you wish to contribute by check, please mail the check, made payable to Lynch Syndrome International to:

Lynch Syndrome International
P.O. Box 5456
Vacaville, California 95688 707-689-5089

If you have any questions about donating, please don't hesitate to contact us at the phone number listed above or through email.

Thank you for your compassion. You may be assured your contribution will protect families and save lives.

WITH IMMENSE GRATITUDE TO THE FOLLOWING ORGANIZATIONS, FAMILIES AND TRULY TERRIFIC INDIVIDUALS, WHO HAVE STOOD UP AND JOINED US IN OUR MISSION OF PROTECTING FAMILIES AND SAVING LIVES BY DIRECT DONATION, IN KIND DONATIONS OF GOODS, COLLATERAL OR SERVICES TO ASSIST US IN PROMOTING PUBLIC AWARENESS AND EDUCATION OR BY SPONSORING PROJECTS WHICH DIRECTLY OR INDIRECTLY BENEFIT LYNCH SYNDROME IN OUR MISSION TO PROTECT FAMILIES AND SAVE LIVES...

TO YOU, WE ARE ETERNALLY GRATEFUL--- AS WITH YOUR HELP, MANY WILL LIVE!

• Champion Exposition Services (Exhibition Space)
• Kraft Foods Foundation
• Minerva Medical Communications
• Oxford Communications
• Estes Refrigeration
• Merit Dining Group, Santa Monica, CA.
• Kaiser Permanente - Northern California
• Cumuli, Inc., www.thriftyfun.com Manchester, Washington
• Delve, LLC
• Vanguard Charitable Endowment Program, Boston, MA.
•  

A Special Thank You To the Following Persons Who Are Dedicated Toward Those With Lynch Syndrome and Who Have Contributed Immensely Toward Lynch Syndrome International by Donating Time, Services, In-Kind Donations, Promoting Lynch Syndrome, or Direct Contributions To Lynch Syndrome International Projects:

• Dr. Sapna Syngal - Dana Farber
• Dr. Henry Lynch - Creighton University
• Dr. Uri Ladabaum, Stanford University
• Anya Prince - Cancer Legal Resource Center
• Scott Weissman, MS, Northshore University Health System
• Lynch Syndrome Network
• American Society of Human Genetics
• Genetic Alliance
• National Coalition of Oncological Nurse Navigators
• Dr. Patrick Lynch, MD Anderson
• Dr. Stephen Lanspa, Creighton University, Omaha, Nebraska
• Dr. Hans Vasen, Leiden, Holland
• Dr. Jane Green
• Dr. Dawna Gilchrist
• Sir John Burn, Great Britain
• Dr. William Grady, Fred Hutchinson Cancer Center
• Dr. John Potter, Fred Hutchinson Cancer Center
• Dr. Rick Boland
• Deb Duquette, Michigan Department of Public Health
• Peggy Cooper, University of California, San Francisco
• Robin Bennett, University of Washington
• American College of Physicians
• Kaiser Permanente
• Sutter HealthCare
• Cindy Radford
• Margo Thelan
• Deb Duquette
• Midwest Regional Chapter of the American Cancer Society
• Andy Pignataro Agency
• Intuit
• A Little Insight, Vacaville
• Google, Inc.
• The Genetic Alliance
• OMED
• Tahoe Joe's Restaurants
• National Coalition of Oncological Nurse Navigators
• National College of Physicians, Northern California Region
• NCCN
• University of California - Davis Medical School
• International Congress of Human Genetics
• Northshore Healthcare
• Sloan-Kettering
• MD Anderson
• Mayo Clinic
• Ami Blanco, UCSF
• Dr. Noralene Lindor, Mayo Clinic
• Jackson Medical Supply
• Delva LLC
• San Francisco Giants Players
• Toyota of Vacaville
• Western Digital Corp.
• Meyers Corp.
• Resenser Hotels
• Napa Valley Wine Train
• Pier 39, San Francisco, California
• De Young Museums
• San Jose Sharks
• San Diego Chargers
• Oakland Raiders
• San Francisco 49ers
• Vida Blue
• Brandon Crawford
• Michael Huff
• Sheryl Crow
• Jeffrey Leonard
• Shawn Estes
• Scott Garretts
• Mark Davis
• Jack Clark
• JT Snow
• Chili Davis
• Disneyland
• Knotts Berry Farm
• Kasey's Kreations, Mexia, Texas
• Chardonnay Golf Club, Napa, California
• Mustards Bar and Grill, Napa, California
• Pampered Chef
• Waste Management Corporation
• Simmons Management Group, College Park, Maryland
• David Wakefield
• N2N Security Systems
• Colon Cancer Challenge Foundation
• Soroptomist International
• Judith Ruggiero
• Susan Olson
• John Nelson
• Dr. Elizabeth Herrman
• Myriad Genetics
• D.L. Ryan Companies, Ltd.

INDIVIDUALS AND FAMILIES

• The Rhoades Family
• The James Snelling Family for Jason Snelling
• The Samson Family
• The Stephen and Linda Bruzzone Family for Hap Snelling, Marcella Snelling Jacob
• The Beth Fairfanks Family
• The John and Cheryl Stark Family
• The Fabiani Family
• The Hamilton Family
• The Michael O'Hara Family
• Eileen Grubba
• The Joseph Roberson Family
• Maureen Clark Family
• The Mandy Matthews Family
• Julie Libman Family
• Cheng Family In Dedication of Uygen Tran
• The Jamie Loveland Family in Dedication of the Lynady Family
• Alexis N. Smith
• Brian Sullivan
• Robert Burke Family
• Roque Collazo Family
• Joey Crupi
• Joshua Harris
• Anthony Giordano Family In Dedication of Jennifer Palumbo
• Frederick Barbieri Family for Jennifer Palumbo
• Donna Harran for Jennifer Palumbo
• Joseph D. Crupi Family for Jennifer Palumbo
•  
• Amy Berman
• Dr. Alison Beltzer
• Spinetto Family
• John Ranieri Family
• The Stephanie Meyers Family
• Frank and Helen Bruzzone Trust
• JoAnn De Francesco
• Constance Menafee
• Alyssa Moss dedicated to Carolyn Moss
• Anonymous dedicated to Steve and Linda Bruzzone
• Brian Sullivan dedicated to Joseph Crupi
• Terrie Arnold Family
• Sally Ortgies Family
• Dr. Sypna Syngal
• The Popa Family in Honor of the Birthday of Linda Manson
• Linda L. Gibb in Honor Of The Birthday of Linda Manson
• Gail Kennedy In Honor of The Birthday of Linda Manson
• The Philip Alward Family
• The Virginia Brannan Family
• Janet Peirce Family
• Jennifer Taylor Family
• Margaret Davison Family
• Dr. Sypna Syngal, Dana Farber
• Bernard A. and Gabrielle Fenster Family
• R Ramspacher Family
• The Caspers Family
• JoAnn DeFrancesco
• Selena Martinez Family
• Leanna Dabney Family
• Kelli Uldahl Family
• Kringle Family
• Andy Pignataro Agency
• A Little Insight, Vacaville, CA.
• Toyota Vacaville
• Serrato Family
• Ashley Thompson
• Helen Reynolds
• Jay Yerkes
• Robert Spratt Family
• Brownridge Family
• Judith Reed
• Vaughn Family
• Barb Kringle
• The Gilbert Family
• Lynn Tufield in Honor of the Birthday of Eileen Grubba
• The Gillingham Family
• The Stevenson Family
• The Knights Family
• The C. Serrato Family
• Ashley N. Thompson
• Helen Reynolds
• Jay Yerkes
• The Robert Spratt Family
• Ludwig Family
• K.F. Brownridge Family
• K. Vaughn Family
• Richard Brown Family
• Betty Beaird
• Lynn Marie Killops
• In Honor of the Summer Family
• In Honor of the Caspers Family
• Latwa-Koko Family
• Ken Oxley
• Tim Krenik in Honor of Julie Krenik
• Gabrielle Fenster in the Memory of Mary Augustine
• In Memory of Kate Murphy
• M. Martin Family
• VonMosch Family
• The Chang Family
• The Hufford Family
• J. Bennett Family
• Barry Bresler Family
• David Wortman Family
• Jamie Loveland In Honor of Jenn
• John Sawasky Family
• Kim and Kathleen Sawasky Family
• C. Lennon Family
• E. Longmore Family
• P. Whitworth Family
• Sharon Francz
• Myra Martin
• Beth Darmstadter
• Elizabeth OBrien
• Glenn Brown
• Emily Atkins
• Cindy McClain
• Marlene Wetzel-Bloomfield
• Stephanie Wetzel-Toole
• Teresa and Joel Andreni
• Anthony LaCerva
• Jennifer Lybarger
• Alan Chonco
• Elaine Breiner
• Jessica Kaminski
• Anna P. Schoutko
• Gerri Wetzel Schoutko
• Jeremiah Dunleavy Family
• Timothy and Mimi Burke Family
• DC and Paul Thompson Family
• Debbie Donofrio
• Bethany Jackson
• Marc Ramsey Family
• Jesse Sawyer
• Lynda Carter
• Timothy Murnane
• Terry Zimmer
• Mariellen Griffith Family
• Peter Bennett

LYNCH SYNDROME IS A FAMILY MATTER 

Though hereditary cancers have existed throughout the ages, they weren't actively  researched by modern medicine until the last fifty years.  Physicians wrote about family cancer clusters during the 1800s,  however it wasn't until the late 1950s and early 1960s that statistics were used in hereditary cancer research to establish the actual existence of hereditary cancers.

In the early 1960s, Dr. Henry T. Lynch was a resident at the University College of Medicine in Omaha, Nebraska. Following pursuit of a PhD in genetics, which was abandoned in pursuit of aspirations to become a physician and work with genetics in the field of "clinical applications,"  he had graduated from medical school and was working as a clinical physician within a setting that allowed research opportunities.

His interest in genetic cancers began shortly after arrival.  He was asked to consult on a patient of Charles Magnuson, a gastroenterologist who practiced at the Omaha Veteran's Administration Hospital.  That particular individual possessed an extensive family history of cancer and was thought to have FAP, a hereditary colon cancer that produces thousands of polyps.

Lynch immediately realized an extensive family history of colon cancer did exist, however noted the cancers were not consistent with FAP as there were not the usual numerous polyps, characteristic with the syndrome.  He suspected another hereditary cancer may exist.

Lynch presented his findings to the American Society of Human Genetics in 1964.  In 1966, he and members of a team he established found two different families with the same type of cancer.  They published a paper on this phenomenon which was referred to as CFS or the Cancer Family Syndrome, now known as Lynch syndrome (hereditary non-polyposis colon cancer - HNPCC).

Fortunately, for Lynch, he had experience with the theory of hereditary cancers.  His former mentor in Austin, Texas, Clarence Oliver, was one of the first to begin to work on establishing the theories of hereditary human cancers.   Prior to that time only animals were studied.  Therefore, when Lynch became acquainted with his first initial occurrence with familial cancers, he knew how to study it in detail.

Lynch doggedly researched the phenomenon.  At night and on weekends he would drive into rural areas and speak with families known to have a "family cancer."  Maintaining clear, concise notes and data, he continued his research but not without opposition.

Despite evidence he had discovered and meticulously documented, critics suggested his research was not accurate and he had not taken into consideration the environment or viruses as a cause for the clusters.  A government study team expressed strong doubt as to his findings.  Some peers labeled his work as "problematic," and while presenting his findings in Europe he was confronted and told the syndrome he founded was simply FAP with different characteristics.

Lynch began to realize and see a considerable amount of the "nay saying" was a result of discrimination against the "farm state research teams" by the noted New England research facilities.  He began to focus his research more in Nebraska and the Midwest and to gain his support there.

As doubts continued, Dr. Lynch exercised the "old American pioneer spirit" and only worked harder to prove this theory, taking into consideration the interplay between environment, social factors and disease.  Nebraska physicians supported him and lead him toward more families which possessed the syndrome.  He continued to work day and night to identify and study these families.

A number of researchers may have stopped at simply identifying the syndrome. However, for Dr. Lynch, it simply wasn't enough. He and his entire family dedicated themselves toward those with Lynch syndrome and they sacrificed greatly to protect and save the lives of us and our families.

Dr. Lynch had an insatiable desire to learn how to control the syndrome and treat the cancers. He endeavored to explore it further in order to help those with Lynch syndrome and the immense feeling of hopelessness.  Not only did he delve into the genetics of Lynch syndrome but through his constant personal interraction with thousands of families, Dr. Lynch became family with the psychological difficulties individuals with Lynch syndrome sustain and noted individuals needed hope in order to acknowledge the syndrome.  If there was no treatment and simply a difficult death, then individuals chose denial as an option.

Arguments changed from whether or not Lynch syndrome existed to whether or not it was beneficial to the patient to know about the existence of the mutated gene and the predisposition to various cancers.  Researchers changed their tone, admitting the syndrome did appear actual, however they weren't certain the research was beneficial as they feared the patient would become fatalistic instead of seeking early treatment.  From their perspective, it was often better to deny hereditary cancer existed or for the person to know, a situation we often see occurring with physicians even today, despite the existence of surveillance guidelines and advanced technology which can protect families and save lives.

Dr. Lynch envisioned a statewide network to care for our families, which included testing, a registry, treatment centers and ongoing surveillance for early prevention.  The care focused on the family physician being the first line of defense for individuals with this syndrome.  The physician needed to be both physician and teacher to the patient and act as the central figure to the patient--making referrals to specialists, making certain the proper cancer screening tests occurred and removing or treating the early detected cancers before they became life threatening.

In 1969, on the East Coast, a young medical student named Clement Richard Boland advised his instructors there was a strong family history of cancer within his own family which he believed to be genetic.  He, too, was told it was impossible to have a hereditary disease of cancer without multiple polyps.  He, like Dr. Lynch, set out to discover the truth, finding another family just like his.

In 1972, Boland and Lynch finally met.  Both continued research on Lynch syndrome and finally, it was accepted by the medical community, after family, after family had been found.  Since, Dr. Lynch's son, Patrick, has joined the research efforts, as well as many other dedicated individuals, including Dr. Stephen Gruber from Michigan State, Dr. Randall Burt from Huntsman Institute, Dr. Bill Grady and Dr. Stephen Potter from Fred Hutchinson in Seattle, Dr. J. Terdiman at UCSF, Heather Hampel and Dr. Albert De La Chapelle at Ohio State, Dr. Karen Lu and Dr. Rodrigas Bigas at MD Anderson in Houston, Dr. Hans Vasen in the Netherlands, Dr. Syngal of Dana Farber and many, many more. Before their dogged efforts to prove this hereditary condition existed, entire families were wiped out.  Their research has provided the technology so we can live.

{/AF}

However, many of our families are still being wiped out and individuals are dying as a result of delayed diagnoses.  Today, it is projected over 600,000 individuals have the defective gene, however ess than five percent of them have been diagnosed.  This is believed to be due to many factors:

• Many American medical schools did not teach medical students about Lynch syndrome until well after 1985.  It was documented in journals and studies, but the information did not get to the physicians.  It is highly likely that most physicians that completed medical school before 1995-2006 know little  about Lynch syndrome.
• Many of today's doctors are imported from other countries where they attended foreign medical schools that didn't include Lynch syndrome within its curriculum.
• Very few physicians are taking family histories and even when they do, the family history is not documented in a detailed manner within the patient's file so other referred physicians are not aware of it.  This subsequently eliminates checks and balance quality assurance.  The reasons for not following this very basic standard of care are many, including time, lack of payment from insurance companies, fear of future litigation, etc.
• Many physicians only have fifteen minutes to consult with a patient and the taking and documentation of a good family history consumes almost all that time.  There is a shortage of GPs in today's medical community and only half as many physicians are becoming GPs today as they were ten years ago. To further complicate matters, physicians used to work sixty hours a week and in the past several years have reduced their work schedules.  As a result, an equivalent of 36,000 physicians have been eliminated from the market, increasing the need for general practitioners, dramatically.
• Many records are now electronically generated and even software purchased several years ago is already antiquated as it does not facilitate a  function for taking family histories.
• Insurance companies don't compensate physicians for the time required in thoroughly taking a family history.
• Patients don't know their family history to give their doctors.
• Few physicians have the tools or the knowledge of how to access of specific genetic testing or how to choose the "right test" for the right patient.  Many don't know how to treat an individual who is at high risk for hereditary cancers.
• A failure to diagnose Lynch syndrome may be the result of "availability heuristic" situations in which physicians only identify with that which they have actually had some sort of experience and without that experience other ailments and syndromes are not considered for diagnosis.
• There is often dismissal of symptoms of colon and other "below the belt cancers" in individuals of a younger than usual age (under forty) due to lack of information about Lynch syndrome and the false belief colon cancer is a "old person's" cancer.
• Many physicians don't recognize early endometrial and ovarian cancers as possible hereditary cancers.
• Many physicians don't realize there are cancers like Lynch syndrome which metastasize in 1-3 years, mistakenly thinking ALL cancers take over five years to develop.
• Some physicians experience denial and projection of one's own feelings of fear of cancer such as telling a patient, "Do you really want to know if you are going to get cancer?"  "Do you really want to know if you may die?"
• Patients often experience fear and subsequent denial of risk, choosing not to inform the physician of the family history or declining genetic testing.

In late 2007, I was diagnosed with colon cancer, following many years of concern and fear the "family cancer" was hereditary.  Until this last generation, family members died in middle age of Lynch cancers.  In fact, through my own generation, every single person from three generations prior either sustained a cancer or died young from assumed Lynch syndrome, except for one. My own cancer was a late diagnosis as a result of skepticism and marginal medical care received from my physician.  The result was a Stage III (c) metastases into the lymph nodes.

Until my diagnosis, there were no less than thirteen doctors and many opportunities for someone to take a detailed family history from members of my family and to refer individuals for genetic testing.  It never occurred prior to the time I was diagnosed and as a result, one individual of our family died.  The thirteen included general practitioners, urologists, gynecologists, gastroenterologists and oncologists.

During the course of care leading to the diagnosis and the treatment, I encountered many physicians and medical health care professionals who knew nothing of Lynch syndrome.  I met many families who also had a "cancer thing going on" in their family and knew nothing of it. It was apparent, there was a disconnect with the information the researchers were putting out and the information medical treatment providers were taking in.  As well, it was apparent physicians were not making the taking of a family history a priority---or---the institution with which they were involved did not wish them to make the taking of a family history a priority, for whatever reason.

I am very grateful for the diagnosis of Lynch syndrome. Had I not been diagnosed, most likely my daughter would never have been diagnosed as to this date and the cancers would have continued with their neverending cycle.

It can't be argued life was lost as a result of lack of taking a family history, lack of diagnosis, lack of surveillance and lack of treatment.  Had my father had those opportunities, he may be alive today and had we known a diagnosis earlier, we could have been protected from metastasized cancers. Today, many lives are being lost in that manner and families are not protected.

Fortunately, in my situation, following diagnosis, I was blessed with the dream team which saved my life and cared for me during the 27 day hospitalization of treatment, the two months of recovery from serious anemia, the six months of chemotherapy, the recovery from prophylactic surgery and since. My physicians are as valuable and cherished by us as members of our family and we are eternally grateful to them. Thanks to them, I am alive today...and my family is protected.  Our physicians keep us alive.

My story is no different than thousands of others, both with us and gone. It is heard repeatedly throughout the world and in most instances, when individuals are diagnosed with Lynch cancers, it is the result of a delayed diagnosis.  It  doesn't have to be that way...we have this wonderful, affordable technology that offers hope and can keep us alive and physicians aren't using it...allowing individuals to get cancers and to die.  A misdiagnosis of someone with Lynch syndrome is a misdiagnosis of an entire family and entire families are getting "wiped out" with these cancers.

There is no need for any person who has health insurance and/or availability to health care, who knows their family history and who has Lynch syndrome, to be diagnosed with advanced stages of colon cancer, especially with genetic testing available and the existence of surveillance measures which can remove tumors before they become cancerous.  In fact, a recent study has determined it is less costly to provide across the board testing and annual screenings, than it is to treat us when we have advanced cancers.

Changes needed to be made. Awareness and education of both the public and the medical profession is a necessity if we are going to protect families and save lives. There is a lot to be done and a considerable amount of need to effectively care for and treat individuals with Lynch syndrome.  As soon as I recovered in mid 2009, Steve and I went to work on this matter.

In July of 2009, Lynch Syndrome International was formed through the dreams of members of our family, including my brother, Jim Snelling and his lovely wife, Rhonda and Selena Martinez, a passionate, devoted young woman whose family has been dramatically impacted by Lynch syndrome.

With the assistance of Sandi Pniauskas, of Toronto, Canada, we were able to connect with those who have spent their lifetimes protecting families and saving lives from Lynch cancers and develop an organizational schematic.  With the help of survivor, Kate Murphy, existing cancer organizations became aware of the organization.

Today, we are fully operational with dozens of volunteers internationally, working together toward our common goals and we are working toward our mission.  It has been an exciting sixteen months.

Lynch Syndrome International addresses the gap of information which has existed between practitioners and those conducting research, as well as provides assistance to those with Lynch syndrome.  Prior to the formation of this organization, no such organization has ever existed.

Our future goals?  We intend to personally contact every single general practitioner, gynecologist, urologist, internist,dermatologist, optometrist, pathologist, optometry specialist and gastroenterologist, in the United States, with information in respect to Lynch syndrome.  Our goal to get this completed in three years and to have it completed internationally within the next twenty years.  We intend to have representation at every Relay for Life in the United States and every conference and event which addresses Lynch cancers within the next ten years.  We intend to have four major public awareness campaigns per year.  We began this in March of 2010.  In 2011, we intend to make those public awareness campaigns through print, radio and television stations.  By 2012, we will have regular PSAs about Lynch syndrome on the air and by that date, we hope to have education in respect to Lynch syndrome and genetic disorders in every single classroom.  The first three goals are currently being considered for sponsorship by major corporations.  The others...we're working on them.

With the inspiration of the dogged perseverance of Dr. Lynch, Dr. Boland and the dozens of dedicated researchers and treatment professionals who have followed and contributed so very much so we can live (to include our own physicians), together, we will protect tens of thousands of families and save tens of thousands of lives.

We hope you will join us in this endeavor to protect families and save lives --

In the meantime, please, live well and stay well!

Steve and Linda Bruzzone
Founders      11/29/2010

  CREIGHTON UNIVERSITY           

The Home Of Lynch Syndrome Research and Care

The Hereditary Cancer Center at Creighton University, founded in 1984 by Henry Lynch, M.D., is one of the oldest and most comprehensive research-based centers in the world devoted to the prevention and early detection of hereditary forms of cancer.

While he frequently travels the United States and abroad to lecture and consult, Dr. Lynch and his team of cancer experts continue to see patients regularly at Creighton University’s Hereditary Cancer Prevention Center in Omaha.

Cancer Research and Patient Care Management

Global collaborations with researchers and clinicians in the United States, Canada, South America, Europe and Asia have allowed the center to remain at the forefront of hereditary cancer research and patient care management, particularly in the following areas, each of which Dr. Lynch described first:

• hereditary breast ovarian cancer syndrome

• familial atypical multiple mole melanoma (FAMMM) syndrome in association with pancreatic cancer

• hereditary nonpolyposis colorectal cancer (HNPCC) syndrome, also referred to as Lynch syndrome

For More Information or to Make an Appointment

Contact: Henry Lynch, M.D.

Creighton University

Hixson-Lied Science Building, Room 202

800.648.8133

402.280.2942

htlynch@creighton.edu

http://medicine.creighton.edu/HCC

 HELP WANTED

Big hearted, strong willed,courageous individuals to help LSI achieve our mission or protecting families and saving lives!  Minimum qualifications:

Must have passion, warmth, commitment, loyalty and dedication for active, busy, exciting position. Work from your own home. Set your own hours. Up and coming organization with great coworkers. Occasional travel ! Meet new people. Terrific Benefits...no pay.

What, no pay?  Yep, no pay...EVERYONE involved with Lynch Syndrome International is a volunteer, from our Executive Board, to our Scientific Medical Board, to our Executive Director, to our Project Managers, to our Regional Representatives.  We are a true, not for profit, 501(c)(3) TOTALLY volunteer organization and propel forward on people power, fueled by passion and commitment to protect families and save lives.

We are seeking volunteers who are willing to fill the following volunteer positions and/or assist with one, two or even all of the following tasks:

Regional Grassroots Coordinators

• Manage LSI Operations in your region:
• Facilitate the LSI Buddy to Buddy Program
• Facilitate Regional LSI Support Groups
• Arrange and Organize Relay for Life Events
• Conduct Regional Public Awareness Campaigns for LSI
• Occasional travel to regional conferences
• Organize Regional Fundraising Events
• Report Events and Activities for Newsletter

Internet Communications Coordinator who, by email, will contact public agencies, organizations, medical centers, etc., to link to our website  and maintain content on their sites about Lynch syndrome.

Thousands of Volunteers who will

• Act as buddies to newly diagnosed previvors and survivors
• Work with LSI at four annual public awareness events
• Open up your hearts and your souls to journalists for public awareness events
• Participate in educational outreach events such as Relay for Life and local conventions.
• Distribute LSI publications to medical offices and other targeted locations.
• Participate in Relay for Life Events, promoting Lynch syndrome and hereditary cancers
• Work at local events, educating others about Lynch syndrome
• Participate in fundraising efforts for LSI
• Utilize life and learned skills to enhance the organization, including assisting in writing grants, soliciting organizations for fundraising, making radio spots, filming television ads, writing articles for newspapers, conducting studies of insurance company coverage, medical physicians volunteering services for genetic testing and for screening, researching and providing local resources for individuals with cancers, etc.  There is no end to what one can do to volunteer.
• Lobby local lawmakers for badly needed changes
• Engage in organized letter writing campaigns to change guidelines and enhance screening measures.
• Raise funding for research
• Get involved in clinical trials, providing needed information to protect families and save future generations.

We realize, as Survivors, sometimes the energy simply isn't as robust as our hearts and our passions.  We understand, admire and respect the priorities of family, friends and simply living life to the fullest, as it should be...so please don't volunteer more than what you can comfortably offer, without jeopardizing any other commitment in your life.  There are many, many survivors who are working as hard as forty hours a week and many who can only do several hours a month.  That is fine...we can all contribute in our own way...WE are the ones who will make the needed changes!

Between all of us, we should be able to move mountains...and win battles...on our terms...one life and one family at a time...

Please contact us in order to volunteer!           
 

{/AF}

THE VERY FIRST LINE OF DEFENSE IN THE SURVIVAL OF LYNCH SYNDROME IS KNOWING ONE'S FAMILY HISTORY

Lynch syndrome is inherited through families in an autosomal dominant manner.  This means an inherited mutation of the mismatch repair gene, coupled with a normal gene will produce children that have an estimated 50-50 chance of contracting Lynch syndrome.

The ONLY way to diagnose Lynch syndrome effectively is first through a careful review of the family history.  What the physician is looking for are three individuals, two of which are directly related to the third and who have sustained a Lynch cancer. (Colorectal Cancer, Endometrial Cancer, Gastric Cancer, Ovarian Cancer, Hepatobiliary Cancer, Pancreatic Cancer, Ureter Cancer, Renal Pelvic Cancer, Skin Cancer (Muir Torre), Prostate Cancer, some subsets of Breast Cancer and Brain Cancer.)

This basically leads the physician to determine whether or not to prescribe genetic counseling and/or genetic testing which, if positive, allows individuals diagnosed with Lynch syndrome to obtain annual screening tests to detect cancers early, when they are often treatable and not life threatening.

Generations of a Lynch Syndrome Family - A Personal Story

Knowing family histories and sharing them with physicians not only helps protect us in avoiding certain hereditary illnesses and predispositions to chronic conditions but alerts us to possible complications which could occur during surgeries and conditions which can affect recovery.  An added benefit is it allows us to learn of family traditions and stories of the trials and tribulations of our ancestors which can also greatly assist in achieving a strong recovery and survivorship.

A good first step toward this process is to view the free, public resource available through the Surgeon General's Family Health Initiative addressing documenting your family history.  Their site has software available for use to document and print out the family history for family members and the health care provider.  In addition, it has the capabilities for the family history to be downloaded into the medical file in your physician's office.

After reviewing it carefully, sit down with your parents and ask them their medical backgrounds, questions about their lives.

Where were they born?  What ethnicity were they and their ancestors? How and where did they grow up?  Were they raised in the city or on a farm--in a small town or in a major metropolitan area?  How did they get their water -- from a well, or a municipality?  What did they eat and how was it prepared?  What was their life like?  Did they work in factories or spray crops?  When and where were they born?  Were they ever ill or hospitalized?  Did they contract any cancers?  At what age?  If so, where was the cancer located?  Where were they treated?

These questions are extremely important as environmental factors have every bit as much of an effect on cancers as hereditary factors and can provide clues into what familial or inherited cancer condition one may have.  

Everything is interrelated when it comes to cancer.  Therefore, list every occupation, every situation, everything those ancestors did and when, where and at what age it occurred.

Ask about their parents, grandparents, brothers and sisters, nieces and nephews and pose the same questions you asked about your parents' past and lifestyles.  Every answer they provide will render little clues as to the information you will need to protect yourself and your family.

In many families, adults and other family members have often kept health matters private and may at first appear uncomfortable about answering these questions.  It is important to ask the right questions and to prompt them and job their memories as to where there was removal of colon polyps, skin melanomas, abdominal surgeries, brain disorders and hysterectomies.  Be certain to document each and every one.

When documenting the family history, don't forget to ask about hysterectomies.  Today, one of three women have had a hysterectomy.  This information can significantly provide clues or information to create a direct relationship as endometrial cancer may be equally as prolific in Lynch syndrome as colorectal cancer.

Its also not unusual for family members to have little or no knowledge of how grandparents, aunts and uncles or cousins died so simply ask them when and where...then go to the local library or newspaper office and research the obituary or pull the death certificate from the state or country department of vital records.  After you obtain the family history, draw your pedigree.

When preparing a family history, its a good practice to not limit one's self strictly to Lynch syndrome, but to document every possible condition parents, siblings, children, grandparents, aunts, uncles, nieces, nephews, cousins and ancestors could have had. This process is often eye opening and can provide a totally new perspective in respect to other potential unknown health conditions.

While performing research upon our ancestors and related family members, it only helps us to learn not only how they died but what our ancestors endured in life. This can prove invaluable toward our own sense of survival. The characters of our ancestors can serve as clues as to how they survived unthinkable conditions.  Those clues may dramatically help us weave our way through the survival process.  In reflecting upon how they lived and managed despite incredible adversity, we can draw from their strength.

Once the family history is provided to the doctor, he/she will assess it and by the use of online tools or by expertise, will determine the level of risk for inherited conditions and whether or not to refer you to a genetic counselor or grant a direct referral for genetic testing.

The taking of a family medical history is considered a "standard of care," taught to all physicians at all medical schools and is considered "good medicine." However in today's quickly evolving technical world, there are an overwhelming number of things for physicians to know.  Therefore, it is reasonable to assume your physician, gynecologist, urologist, dermatologist, obstetrician or pediatrician may not be aware of Lynch syndrome. We may have to provide our care providers with guidelines and resources so they may become familiar with it.

A family medical history will assist health providers in not only determining risk and patterns that may be relevant to one's own health but also provide them with information to recommend prevention tools to reduce the risk of disease, decide what diagnostic tests to prescribe, assess whether or not genetic tests are necessary, diagnose a condition that may not otherwise have been considered, determine whether or not other members of your family are at risk for disease and other measures that could be life saving.

The family medical history won't predict your future health but will allow you to know if you are at high risk for disease, life threatening  or chronic conditions.  The past provides clues to our futures so we and our families may remain happy, healthy and intact.

Researching your family medical history is not only good sense and a loving thing to do, not only as parents, but as a responsibility of a patient to provide to the care provider.

LINKS FOR FAMILY HISTORY RESEARCH

Family Medical History Information from Ohio State University

American Medical Association Article on the taking of a Family History

Family History Tools from the National Genome Research Institute

Family History tool by SFGenomics

Reviewed 7/20/2012

Photo Courtesy of Marco Pompei

Medicine is not merely a science but an art.  The character of the physician may act more powerfully upon the patient than the drugs employed.

-~  Paracelsus

Understanding the busy schedule of the professional, the following pages are quick guides for professionals to acquaint them with the basic knowledge of Lynch syndrome and how to diagnose and manage the disorder.

More detailed information to supplement these pages can be found by clicking on the LSI Library link on the Main Menu, to the left of this page, whereupon selected studies are available as well as clinical trials, registries, patient payment assistance programs, anti-discrimination laws and other resources relative to Lynch syndrome.

QUICK FACTS ABOUT LYNCH SYNDROME

• Approximately 10% of all cancers are hereditary.
• Approximately 145,000 people per year get colon cancer and one in every 35 persons with colon cancer have Lynch syndrome.
• Approximately 600,000 to 1,000,000 individuals within the United States are projected to have Lynch syndrome, however less than 10% of that number have been diagnosed.
• The first step toward diagnosis is the taking of a comprehensive family medical history.
• The only true form of diagnosis of Lynch syndrome is through genetic testing.
• Genetic testing saves lives.

LYNCH CANCERS LIFETIME RISKS

• Colon Cancer - Up to 80%  General Population 2%
• Endometrial Cancer - Up to 60% General Population 1%
• Stomach -  Up to 13% General Population - 1%
• Ovarian - Up to 12% General Population 1%

Those diagnosed with Lynch syndrome have a slightly elevated risk over the general population of developing cancers of the kidney/urinary tract, brain, small intestine, cervix, liver, bladder, ureter, esophagus, small bowel, pancreas, hepatobiliary tract, gall bladder duct, prostate and sebaceous adenomas (Muir Torre)

Identification, Diagnosis and Management - Excellent Immediate Resource Guide for Physicians:  Lynch Syndrome by Wendy Kohlman, MS and Stephen B. Gruber, MD, PhD, revised 9/20/2012

Breast cancer has been identified as an integral component of LS based upon mismatch repair germline mutation factors in breast cancer tissues from family members who are not only at high risk, but, moreover, who had Lynch syndrome cancers, such as involving the colorectum.  Breast cancer is exceedingly common in the population and, therein, its occurence in Lynch syndrome families could be due to chance, but importantly, a subset will likely be integrally related to a germline mismatch repair Lynch syndrome mutation in some LS families.  Therefore, it would be prudent to mount a screening and management program for Lynch syndrome in those families where breast cancer is believed to be an integral lesion.

A detailed cost-effectiveness analysis* of screening for LS was completed after the EGAPP™ recommendation was published.  The four testing approaches evaluated were found to be cost effective in the following order, from most to least cost effective:

• Preliminary screening of tumor tissue using IHC, plus BRAF
• Preliminary screening of tumor tissue using IHC only
• Preliminary screening of tumor tissue using MSI
• Genetic sequencing (DNA analysis) for all 4 MMR genes

*The Cost-Effectiveness of Genetic Testing Strategies for Lynch Syndrome Among Newly Diagnosed Patients with Colorectal Cancer, published online on January 15, 2010 in Genetics in Medicine. Authors: Mvundura M, Grosse SD, Hampel H, Palomaki GE.

Widespread Genetic Testing Appears Cost Effective published online on 1/4/2011 in Cancer Prev Res (Phila) Authors: Dinh, TA, Rosner, BL, Atwood, JC, Boland, CR, Syngal S, Vasan, HF, Gruber, SB, Burt, RW

Expert Discussion of top expert panel of the Cost Effectiveness of Genetic Testing for Lynch syndrome.  The study provides a medically and cost effective method to readily identify and determine precisely who benefits from genetic testing for Lynch syndrome.  A "must listen" panel discussion for all medical professionals.

New NCCN guidelines recommend "MMR protein testing should strongly be considered for ALL colon cancer patients <50 years of age based upon an increased likelihood of Lynch syndrome in this population.  Some centers, however, now perform IHC (and sometimes MSI) testing on all colorectal tumors to determine which patients should have genetic testing for Lynch syndrome.  The cost effectiveness of this so-called " reflex testing" approach has been confirmed for colorectal cancer and this approch was endorsed by the Evaluation of Genomic Applications in Prevention and Practice. (EGAPP) working group at the Centers For Disease Control (CDC)."

Modified 01/13/2013

Photo Courtesy of the National Institute of Health

For those of us who have been diagnosed with cancer, time is a precious commodity. The time and distance from the scientist's lab bench to the patient's bedside must be shortened. ~ Larry Lucchino

Characteristics of Lynch Syndrome:

Autosomal dominant inheritance pattern

Earlier average age of onset of colorectal cancer than in the general population (45 years in Lynch syndrome v. 63 years in the general population)

• Proximal (right sided) colonic cancer predilection (70%-85% of colorectal cancers in Lynch syndrome are proximal to the splenic flexure)

Accelerated carcinogenesis (tiny adenomas can develop carcinoma within 2-3 years in Lynch syndrome v. 8-10 years in the general population)

• High risk of additional colorectal cancers (25%-30% of patients who have surgery for a Lynch syndrome-associated colorectal cancer within 10 years of surgical resection if they received a less than subtotal colectomy) Starts at an earlier age than the general population.  Average onset is 44 years old.  Lifetime risk is 60% to over 80%.

Increased risk of malignant disease at certain extracolonic sites

• Endometrium (20-60% lifetime risk for female mutation carriers)

Ovary (9%-12% lifetime risk for female mutation carriers)

• Stomach  (11% - 19%  lifetime risk.  Higher risk in individuals of Asian descent. Average age of presentation at 56)

Small Bowel  ( Lifetime risk is 1% to 4%.)

• Hepitobilliary Tract  ( Lifetime risk is 2% to 7% )

Pancreas  ( Lifetime risk is 4%)

• Upper Uroepithelial Tract (transitional cell carcinoma of ureter and renal pelvis. Lifetime risk is 4% to 10%. )

Prostate (European Studies)

• Brain/CNS  (1%-3% )

Sebaceous adenomas, sebaceous carcinomas and multiple keratoacanthomas in Muir-Torre syndrome (variant of Lynch syndrome)

Subset of Breast Cancer

• Pathology of colorectal cancer is more often poorly differentiated, with an excess of mucoid and signet cell features, a Crohn-like reaction and an excess of infiltrating lymphocites within the tumor.

Increased survival from colorectal cancer

Germline mutation in a mismatch repair gene (most commonly MLH1, MSH2 or MSH6) that segregates in the patient's family (i.e., members who carry the mutation show a high rate of syndrome-related cancers than those who do not carry the mutation.)

In the MSH-6 mutation, most individuals have colorectal cancers located on the left side of the colon; including the descending colon, the sigmoid colon and the rectum, different from many of those with Lynch syndrome in which the cancers are proximal.  There are more cases of endometrial cancer within those with an MSH-6 mutation.

Modified 7/19/2012

"Like with every form of cancer, early detection is what it is all about. ..It can be prevented with testing, and it can be beaten if caught early!"

~ Rod Stewart

Diagnosis and management of hereditary colorectal cancer syndromes: Lynch syndrome as a model
Henry T. Lynch, MD, Jane F. Lynch, BSN and Thomas A. Attard, MD

What the Physician Needs to Know About Lynch Syndrome - An UpdateHenry T. Lynch

Guidelines for the Clinical Management of Lynch Syndrome by Dr H F A Vasen Department of Gastroenterology, Leiden University Medical Centre and The Netherlands Foundation for the Detection of Hereditary Tumours

Lynch Syndrome  Wendy Kohlmann, MS and Stephen Gruber, MD, Phd   9/20/2012  Excellent immediate resource guide

Risk Assessment, Genetic Testing and Management of Lynch Syndrome by Shilpa Grover, MD, MPH and Sapna Syngal, MD, MPH, Boston, Massachusetts

Diagnostic Approach and Management of Lynch Syndrome by the American Cancer Society

INSIGHT - International Society for Gastrointestinal Hereditary Tumours - International organization that performs research, educates professionals and maintains databases on hereditary gastrointestinal conditions.

Hereditary Non-Polyposis Colon Cancer (Excellent Resource) by Dr. Steve Gruber and Wendy Kohlman, MS, Cancer Genetics Clinic, University of Michigan, Ann Arbor, Michigan

NCCN Guidelines (See Page 8 for Lynch syndrome)

Value of MLH1 and MSH2 In the Appearance of Muir-Torre Syndrome Phenotype in HNPCC Patients Presenting Sebaceous Gland Tumors or Keratoacanthomas; http://www.nature.com/jid/journal/v126/n10/full/5700475a.html Giovanni Ponti, Lorena Losi, Monica Pedroni, Emanuela Lucci-Cordisco, Carmela di Gregorio, Giovanni Pelicani and Stephania Seidenari,

1. ¹Department of Internal Medicine, Division of Dermatology, University of Modena and Reggio Emilia, Modena, Italy
2. ²Department of Pathology, University of Modena and Reggio Emilia, Modena, Italy
3. ³Department of Internal Medicine, Division of Internal Medicine, University of Modena and Reggio Emilia, Modena, Italy
4. ⁴Department of Clinical Pathophysiology, Section of Medical Genetics, University of Florence, Firenze, Italy
5. ⁵Division of Pathology, Carpi General Hospital, Carpi, Modena, Italy

Journal of Investigative Dermatology (2006) 126, 2302–2307. doi:10.1038/sj.jid.5700475; published online 6 July 2006

For More Information, Publications and Resources, visit the LSI Library by clicking the key on the main menu.

Modified 1/13/2013

"An individual doesn’t get cancer, a family does."

~ Terry Tempest Williams

DIAGNOSTIC GUIDELINES

Amsterdam Criteria I for HNPCC

The following must be met in order to make a diagnosis of Lynch syndrome:

• Three affected relatives with verified colorectal cancer
• One is a first-degree relative of the other two
• Two successive generations affected
• One of the relatives with colorectal cancer diagnosed under age fifty
• Familial Adenamomatus Polyposis (FAP) should be ruled out.

Amsterdam Criteria II for HNPCC

The following must be met in order to make a diagnosis of Lynch syndrome:

• Three affected relatives with an HNPCC-associated cancer
• One is a first-degree relative of the other two
• Two successive generations affected
• One of the relatives with HNPCC-associated cancer diagnosed under age fifty
• Familial Adenamomatus Polyposis (FAP) should be ruled out.

Approximately 50% of those meeting the Amsterdam II criteria will have Lynch syndrome.

Revised Bethesda Guidelines - testing of tumors for microsatellite instability (MSI)

Preliminary MSI testing of tumors should occur in the following situations:

• Colorectal cancer diagnosed in individuals under the age of 50
• Presence of synchronous, metachronous colorectal, or other HNPCC-associated tumors, regardless of age
• Colorectal cancer with the MSI-H histology diagnosed in a patient <60 years of age
• Colorectal cancer diagnosed in a patient with one or more first-degree relatives with an HNPCC-related tumor, and one of the cancers being diagnosed <age 50 years
• Colorectal cancer diagnosed in two or more first-degree or second-degree relatives with HNPCC-related tumors, regardless of age

† MSI-H = high microsatellite instability in tumors refers to changes in two or more of the five NCI-recommended panels of microsatellite markers. MSI-L = low microsatellite instability in tumors refers to changes in only one of the five NCI-recommended panels of microsatellite markers.

Hereditary Nonpolyposis Colorectal Cancer (HNPCC)-related tumors include colorectal, endometrial, stomach, ovarian, pancreas, bladder, ureter and renal pelvis, biliary tract, brain (usually glioblastoma as seen in Turcot Syndrome), prostate, sebaceous gland adenomas and keratoacanthomas in Muir-Torre syndrome, and carcinoma of the small bowel.

Breast cancer has been identified as an integral component of LS based upon mismatch repair germline mutation factors in breast cancer tissues from family members who are not only at high risk, but, moreover, who had Lynch syndrome cancers, such as involving the colorectum.  Breast cancer is exceedingly common in the population and, therein, its occurence in Lynch syndrome families could be due to chance, but importantly, a subset will likely be integrally related to a germline mismatch repair Lynch syndrome mutation is some LS families.  Therefore, it would be prudent to mount a screening and management program for Lynch syndrome in those families where breast cancer is believed to be an integral lesion.

Guidelines:    Guidelines For The Clinical Management of Lynch Syndrome, Vasen, et. al.  2007

NCCN Guidelines Have Been Revised 11/2011 for Lynch Syndrome HNPCC Cancers

EGAPP Recommendations for Preliminary Screening And Genetic Testing

ACOG Practice Guidelines

American Society of Breast Surgeon Guidelines

American Society of Clinical Oncologists Guidelines

Society of Gynecological Oncologists Statement on Prophylactic Surgery

AMA Activity For Medical Professionals To Identify High Risk Individuals

National Society of Genetic Counselors

Reviewed 7/19/2012

"If you don't ask the right questions, you do not get the right answers.  A question asked in the right way often points to its own answer.  Asking questions is the A-B-C of diagnosis.  Only the inquiring mind solves problems.

-Edward Hodnett  (1841-1920)

PROFESSIONAL TOOLS

Diagnostic Identification Tools:  Essential and effective tools available to medical professionals to calculate the risk for Lynch syndrome.

PREMM Prediction Model for MLH1 or MSH2 -  An easy qustionaire clinical prediction designed to determine the clinical probability of an individual carrying a mutation of the basic Lynch cancers.

MMR Pro- This assessment device developed by Johns Hopkins researchers allows medical health professionals and families to make decisions about cancer prevention screenings and calculates the risk of an individual carrying a gene defect.  It alleviates the time necessary to assess a family history and is stated to accurately identify more at risk individuals.  Download page and Tool Information.

Reviewed 1/31/2011

RECOMMENDED SCREENING

Colonoscopy: Annually, beginning at age 20-25, or ten years younger than the earliest age of diagnosis in the family, whichever comes first.

Endometrial Sampling: Annually, beginning between ages 30-35

CA-125: For Ovarian Cancer

Transvaginal Ultrasound: For Endometrial and Ovarian Cancer:  Annually beginning ages 30-35

Ultrasonography With Cytology: Annually, beginning at age 25-35

Gastroscopy: Annually for individuals with family history of Lynch gastric cancers.

Examination and Review: Family History Review, Discussion of LS -  Annually

Dermatological Examination:  Including Muir-Torre lesions characterized including, but not all inclusive of sebaceous adenomas, sebaceous epithelioma, basal cell epithelioma with sebaceous differentiation, sebaceous carcinoma and squamous cell cancer (keratoacanthoma type.)

Colon Resection: For individuals with active colon cancer that cannot be removed by colonoscopy.  Subtotal colectomy favored with preferences of patient actively elicited.  Consider more extensive colectomy for patients with a strong family history of colon cancer or young age. (<50)  NCCN 2.2012

Full Abdominal Hysterectomy and Bilateral Salpingo Oopherectomy: Discuss as an option after childbearing years to deter the high risk of gynecological cancers.

Any Other Screening As Deemed Appropriate By the Physician:

Breast cancer has been identified as an integral component of LS based upon mismatch repair germline mutation factors in breast cancer tissues from family members who are not only at high risk, but, moreover, who had Lynch syndrome cancers, such as involving the colorectum.  Breast cancer is exceedingly common in the population and, therein, its occurence in Lynch syndrome families could be due to chance, but importantly, a subset will likely be integrally related to a germline mismatch repair Lynch syndrome mutation is some LS families.  Therefore, it would be prudent to mount a screening and management program for Lynch syndrome in those families where breast cancer is believed to be an integral lesion.

European studies have evidenced prostate cancer as an integral component of LS based upon mismatch repair germline mutation factors. Annual PSA screenings and prostate examinations are a prudent approach for screening of  individuals with the Lynch syndrome.

Modified 11/22/2011

GENETIC COUNSELORS AND LABORATORIES:

GeneTests from the University of Washington provides a list of genetics clinics in the United States and internationally. The list can be accessed by clicking on “Clinic Directory” at the top of the GeneTests home page. Clinics can be chosen by state or country, by service, and/or by specialty. State maps can assist in locating a clinic in your area.

The National Society of Genetic Counselors offers a searchable directory of genetic counselors in the United States. Search by location, name, area of practice/specialization, and/or ZIP Code.

The National Cancer Institute provides a Cancer Genetics Services Directory, which lists professionals who provide services related to cancer genetics. You can search by type of cancer or syndrome, location, and/or provider name.

Reviewed 2/14/2011

LYNCH SYNDROME MUTATED GENES

Lynch syndrome cancers are caused by mutations in seven mismatch repair genes, specifically:

MSH2   2p16  chromosome   45-50%

MLH1   3p22.3/A> chromosome   20%

MSH6   2p16    chromosome   10%

PMS2   7P22.1 chromosome   1%

PMS1   2Q32.2 chromosome   Rare

MSH3   5q14.1  chromosome   Rare

EXO1   1q1q43  chromosome   Rare

Other Genes Not Yet Discovered 20-25% prev
 

      IT'S JUST THE TIP OF THE ICEBERG

Approximately ten percent (10%) of all cancers are hereditary.  Many more are familial and we have most likely only touched the tip of the iceberg in respect to hereditary and familial cancers.  

The field of genetics is pioneering and modern medical technology changes daily.  What we do know, today, is with early detection and a good screening management program, coupled with prophylactic treatment, many affected by genetic defects, resulting in a high predisposition to cancer, can be saved as a number of the cancers are preventable and treatable before becoming life threatening.  

Li Fraumeini Syndrome  -  Breast cancer before the age of 50, soft tissue sarcoma, osteosarcoma, brain tumors, lung cancer, adrenal gland cancer, leukemia and other cancers.  Genetic defect in the TP-53 gene

Hereditary Breast and Ovarian Cancer Syndrome - HBOC  High lifetime risk of breast cancer and of ovarian cancers.  Prostate cancer in men.  

Cowden Syndrome - Also known as PTEN, Creates a 10% risk to thyroid and a higher than average risk to breast and uterine cancers.  It hasn't been extensively studied...

Familial Adenomatous Polyposis (FAP) or Gradner's Syndrome is a colon cancer predisposition syndrome in which hundreds to thousands of precancerous colon polyps (called adenomas) develop throughout the gastrointestinal tract (mostly in the colon and rectum but also in the stomach and small intestine). Attenuated FAP (AFAP) is a milder form of FAP and is associated with increased risk for colon cancer but fewer number of colon polyps. Gardner's Syndrome is associated with the typical number of polyps as in FAP, but also osteomas (benign tumors of the bone) and soft tissue tumors (called desmoids). A second variant, called Turcot Syndrome, is associated with certain brain tumors (different than in HNPCC-Lynch Syndrome). All forms of FAP are associated with mutations in the APC gene.

Von Hippel-Lindau  Von Hippel-Lindau Disease (VHL) is a multisystem disorder characterized by abnormal growth of blood vessels (called hemangioblastomas or angiomas). Hemagioblastomas may develop in the retina, certain areas of the brain, the spinal cord and other parts of the nervous system. Other types of tumors can develop in the adrenal gland, kidney and pancreas. Individuals with VHL also have a higher risk to develop certain types of cancer, especially kidney cancer. Nearly all individuals with VHL are found to have mutations in the VHL gene.

Multiple Endocrine Neoplasias  Multiple endocrine neoplasia (MEN) syndromes received their name because they predispose people to develop tumors of the endocrine glands. The endocrine system is comprised of glands that secrete hormones into the bloodstream that control numerous processes within the body. The endocrine system is instrumental in regulating mood, growth and development and metabolism, as well as sexual function and reproductive processes.

The major glands of the endocrine system affected by the MEN syndromes are the pituitary, thyroid, parathyroids, adrenals and pancreas. Currently, there are two distinct MEN syndromes: MEN1 and MEN2. In some ways, the two syndromes are similar, but there are important differences.

Lynch Syndrome International invites the media to learn more about our organization and assist us in promoting public awareness of Lynch syndrome.  As the only national and international nonprofit organization to address the needs and concerns of those who are affected by the myriad of cancers associated with Lynch syndrome, we very much need you to help us in our mission to protect families and save lives.

Please feel free to peruse our site to learn more about Lynch Syndrome International and use our resources, including our LSI Library, in order to obtain valid up to date, sourced, information on Lynch syndrome.  In addition to the information listed upon the website, we can provide you with resources which may assist in adding a "local slant" being produced, including survivors and previvors who are available to interview and share their personal experiences with Lynch syndrome as well as contact information for experts in the field of Lynch syndrome.

We are always available by email at media@lynchcancers.com or by telephone at 707-689-5089.  We look forward to hearing from you. Together, we can make a postive difference in the lives of tens of thousands of people, within our communities throughout the world.

Photo Courtesy of Bilal Kamoon

{slider=What is Lynch syndrome?}

Lynch syndrome, also known as hereditary nonpolyposis colorectal cancer (HNPCC) predisposes individuals to an approximate 80% chance of contracting colorectal cancer during one's lifetime as well as an up to 60% chance of contracting endometrial cancer.  Diagnosed individuals possess a higher than average risk of contracting various cancers of the gastrointestinal organs, cancers of the abdominal area, the ovaries, the esophaegus, the bladder, the ureter, the kidneys, the liver, the gallbladder duct, the pancreas, the prostate, the skin and the brain.

Because Lynch syndrome is hereditary, a 50% chance exists that a person will pass it down to one's children.  Lynch syndrome does not skip generations.

Lynch syndrome is the result of an inherited genetic defect mostly involving the MLH1, MSH2, MSH6 and PMS2 genes. Other less common mutated genes involved with Lynch syndrome exist, including the newly discovered MYH gene, associated with Muir Torre and sebaceous lesions. However the most common are the MLH1 and the MSH2.

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{slider=What is gene mutation?}

Gene mutations are basically a permanent change in the DNA.  DNA is active and always replicating itself.  If it makes a mistake, then a mutation occurs.

Gene mutations can be inherited or can develop in the sperm or in the egg (called de novo.)  These mutated genes can pass down through the generations. The particular genes of Lynch syndrome are called "mismatch repair genes."  They repair problems (mismatches) that occur during duplication of the genetic code when other genes are made.  If there is a defect in these genes, mismatches won't be repaired properly and cancer cells may develop.

Some gene mutations are a result of environmental factors (such as sun radiation, poor water, ingested foods with DNA altering qualities) and acquired during one's lifetime.  These mutations are not hereditary, however the interplay between the environment and the predisposition to cancers can exacerbate the development of Lynch cancers.

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{slider=How common is Lynch syndrome?}

In the general population, the prevalence of Lynch syndrome is predicted between 1-in-500 and 1-in-1,000.  To put this into perspective, It is projected there are approximately 600,000 mutation carriers within the U.S., however it is also projected only 5% of those individuals have been diagnosed, to date.

What we do know is for each individual diagnosed, there are between twenty and over one hundred other related persons who may also be affected and who benefits from that one diagnosis.  A failure to diagnose Lynch syndrome is a failure to diagnose an entire family.

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{slider=How is Lynch syndrome diagnosed?}

Lynch syndrome can only be accurately diagnosed through genetic testing.  There are many steps which lead up to this process including the documentation of a family history, shared with your medical provider and/or genetics counselor who will determine whether or not it appears you may be at high risk for Lynch syndrome.

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{slider=What is the difference between Lynch I and Lynch II?}

Lynch I solely refers to families in which colon cancer is the sole contracted cancer.  Lynch II families sustain a variety of cancers, such as endometrial, pelvic-renal, ovarian, etc., in addition to colon cancer.

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{slider=If I get diagnosed, is there a treatment for the cancers?}

Not all persons diagnosed with Lynch syndrome get cancer.   As well, many others develop polyps which are removed by colonoscopy or other intervention before they become cancerous. Besides protecting our children and generations to come, the benefit of diagnosis is the ability to obtain annual testing for cancer, called surveillance testing, which may be lifesaving. So, to answer the question, there is not only treatment through resection (removal of cancers and affected organs) chemotherapy and radiation, but there is also a system of annual testing, which if utilized correctly, growths are removed prior to becoming cancerous!

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{slider=Why does testing need to be completed annually?}

Most cancers take years for the tumors to grow. Lynch syndrome cancers are far more aggressive than other cancers and grow and metastasize very rapidly, often becoming cancerous and dangerous in as little as two years.  Early detection is essential for survival.

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{slider=Is there a cure?}

No.  Researchers have been working very hard to find one.  At Case Western University, Dr. Sanford Markowitz has a vision of finding a way to put the breaks on the mutated gene to counter the mutated gene's attempts to put on the gas!  There are dedicated researchers all over the world trying to figure out what can be done to control the mutation. In the meantime, the closest thing to a cure is genetic testing to determine the existence of the mutated gene and the level of risk.  With that knowledge, implementing annual surveillance testing provides a rate of insurance for early detection of cancer, at a time when it is most treatable and before it becomes a threat to survival.

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{slider=My mother has colon cancer and we think her mother had it, but aren't sure.....}

.......Is there a way we can find out if she  is at  high risk for Lynch syndrome, before proceeding directly toward genetic testing?

Yes. Your mother's tumor can be pathologically tested for certain qualities of Lynch syndrome.  Ask her doctor to refer it for MSI or IHC testing.  Many professional organizations and associations are calling for this testing of the tumor to become a standard of care any time colon cancer or endometrial cancer has been diagnosed.  If the family history indicates there may be a high risk of contracting cancer heritability, always ask for the tumor to be tested through MSI.  The testing is not all that expensive and it may be well worth the investment, if your family history indicates there may be a high risk for Lynch syndrome, for everyone to chip in together and pay for it if insurance doesn't cover the cost.

Remember, the MSI is not a conclusive test.  It is only a presumptive test that would need to be confirmed with genetic testing but it is a good, inexpensive start.

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{slider=How many cases of colon cancer in my family should cause concern?}

That depends upon the specifics of your family history.  But, if you have one person in your family with early onset colorectal cancer or with endometrial cancer, it is more than enough to prompt a visit to your physician to discuss Lynch syndrome!

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{slider=How serious is the risk of endometrial cancer?}

Endometrial cancer is the most common of women's cancers.  Annually, approximately 40,000 new cases are diagnosed and there are approximately 6,500 deaths.  Every woman has an approximate 2% risk of endometrial cancer however the woman with Lynch syndrome has an almost up to 65% risk of contracting it.  Those are pretty serious numbers. Today, we have put so much focus on "thinking pink" we have forgotten about all the other colors in the cancer rainbow--the dark blues, the teals and the peaches.  It is time to bring notice to the cancers that play dirty and "hit below the belt."

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{slider=How serious is the risk of colon cancer?}

Colorectal cancer is the second largest cause of cancer deaths in the U.S. Approximately 150,000 people will be diagnosed with it during 2010 and 60,000 will die.  However the survival rate for those with colon cancer found early is more than 90%.  Individuals with Lynch syndrome have an almost 80% lifetime risk of getting colon cancer.  Therefore, that early detection is important for survival and in order to get that, it is very important to be diagnosed through genetic testing.

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{slider=What about the skin cancers?}

Muir Torre syndrome is a variant of Lynch syndrome. It is a genetic syndrome characterized by a combination of sebaceous tumors (tumors of the oil glands in the skin) and one or more internal Lynch malignancies, most often colon cancer.  In the past year, there has been a call to action that all sebaceous tumors be tested through MRI (pathology testing) for Lynch syndrome.

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{slider=What is a "biallelic mutation" and how is it different?}

Known as "Turcot syndrome," "Lynch syndrome III and MMR-D syndrome, a biallelic mutation predisposes individuals to an increased risk of developing brain tumors, leukemia, lymphoma, small bowel cancer and colorectal cancer.  It is rare and fewer than seventy-five families in the United States are known to have it.  About 16% are first diagnosed with colorectal cancer and the other introductory cancers are brain cancer, leukemia or lymphoma, prior to development in the gastrointestinal tract.  Commonly recognized feature are numerous colon polyps, which often lead to a mistaken diagnosis of FAP. The average age for colorectal diagnosis is sixteen, however cancers have been diagnosed from infancy through middle adulthood.  A physical feature appearing to be common with this are dark spots on the skin called cafe au lait (CAL) spots.  It has been suggested that any child presenting with an early onset malignancy and cafe au lait spots should be tested for mismatch repair gene presentations. It is believed to occur when both parents have a mutated Lynch syndrome gene.

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