Lynch Syndrome International

{jb_quote}A TRIBUTE TO DR. HENRY T. LYNCH{/jb_quote}

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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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{jb_quote}IN TRIBUTE{/jb_quote}

{AF}

 

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WITH LOVE....

 

 

 

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

 

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

James and Marnie McDonald

Daniel and Heather Ronca

Lisa Ronca

 

DOROTHY AND JOHN SPINETTO

Wendy Allen in the name of Joanne Spinetto Marty

In Memory of Dorothy and John Spinetto

 

IN TRIBUTE TO 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

Daniel Jones

 

 

IN MEMORY OF THOSE OF THE 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.

 

IN MEMORY OF THE SNELLING FAMILY

In Memory of Great Grandfather Harrie Snelling, his son Hap Snelling and daughter Marcella Snelling, with gratitude for the hope and promise of a future which will allow for families to live.

 

IN MEMORY OF AMY MANISCALCO

Amy Maniscalco, 37 years old passed away from endometrial cancer due to Lynch syndrome. She was an extraordinary young woman.

 

Amy, My Strong Lady

 

You bring chocolate covered strawberries

And strawberry shortcake to family Easter dinners,

 

Wake a quiet room with your spirit

And a laugh that punctuates your funny commentary.

 

You are the perky “Hey guys” on the message machine

The one I still cannot erase.

 

Cancer was a war waged

Against the beauty that was you.

So you fought.

 

You rallied the troops

Wrapped your arms around your family

To protect them.

A giving that was customary for you.

 

 

Every assault was attacked

With precision.

Every insult was met

With grace.

“Hey Aunt Meg, I got a prescription for a wig.

I’m going shopping with Mom”

With humor

“Maybe a red one..”

 

We could not cry for you

Because you didn’t.

Not when the first clot hit your lung

Or the last that stole your speech.

 

How kind you were to all of us.

Never whispering the secrets of your sickness

Or your shortened sense of time.

 

Said you wanted no expiration date

stamped on your forehead-

A date that came too soon-

Took even you by surprise

That Thursday night

 

When the clot surgeon searched for 7 hours,

When we cried in the waiting room

While American idol played on the flat screen TV.

You fought your final battle.

 

We felt your arms slowly fall away.

They could not cushion us any longer.

This enemy was faster and deadlier

Than the cancer you endured.

 

And you “Strong Lady” lay quietly

While we cried

For the gift that would no longer be ours,

 

For the hole in our hearts

That will never be filled,

For the love of an extraordinary young woman,

And her short life, well lived.

 

Amy authored the blog "The Lynch Sister's Incomplete Guide to Christianity, Cake and Cancer," which she described as "an imperfect Christian woman's endometrial cancer fight, one ridiculously true story at a time."

 

IN MEMORY OF ASHLEY BEZDEK

 

Ashley Lauren Bezdek, age 27, passed away on May 29, 2013 at Houston Hospice from Lynch syndrome related endometrial cancer. A native Houstonian, Ashley was born on August 23, 1985 to Brent Bezdek and Jamie Kennedy at Memorial City Hospital.

She graduated from Mayde Creek High School, Katy, Texas in 2003. After high school she worked a variety of jobs, but was most passionate about the swimming pool industry. Following in her grandfather’s (Gilbert Bezdek, deceased) and father’s (Brent, deceased) footsteps, or possibly the chlorine in their blood, she worked as a pool cleaner, trainer, supervisor, retail sales, and cleaner repairs (Bette, they are all yours now!!) Sweetwater Pool and Patio in Bellaire was her second home of work family and real family too. Sheila Bezdek, (Brent’s widow) and her husband, Cesar Tena, their children, and Lillian Kucera, (Sheila’s mother). Ashley did not work for the past two years. She would go in as often as her energy allowed and would ride along to pool sites with her best bud, Dirkland Stephens from time to time. Last Wednesday, during his visit to the house, he told her something and she laughed, really laughed. It was also the last time she laughed.

Kara Tesch has been Ashley’s best friend since September 1991 when they were in first grade. Mike and Elaine Tesch, Kara’s parents, and their daughter/little sister, Kasey (deceased), were her other family. The long-time residents of our neighborhood have all been part of Ashley’s life, just as their children have mine. Kasey’s cancer death set the stage for every other family and friend’s cancer diagnosis and outcome, including her own. Each of the Tesch’s and many from their huge family, were part of our last conversation.

Ashley’s cancer journey was not kind. Most aren’t, but hers was laden with complications and frequent emergency room visits. There are many amazing doctors and some of the best nurses and CNAs, especially on unit 6A/6B, where she spend nearly the entire month of December 2011. Cynthia Baily-Delosbore was our "everything chemo and radiation" navigator from the beginning. Dr. Alexie Cintron joined Ashley’s Baylor team to provide pain management and palliative care in July 2011. He and Allison Torregrossa in the Anti-coaguation Clinic at Quentin Mease were involved in her care until the end. The entire staff at MD Anderson exceeded our expectations, particularly with Drs. Ramondetta, Jhingran, and McAleer their staff. The nurses, doctors, and support staff from both the inpatient and field units at Houston Hospice cared for Ashley and me with the utmost care and dignity as her life slipped away. Denise, Sarah, Stefanie, Cynthia, Nora, Chantre and others were instrumental in keeping us both comfortable during Ashley's last hours.Thank you doesn’t convey the sentiment .

Ashley was preceded in death by her father, Brent Bezdek, great grandparents, Albin and Della Bezdek, grandparents, Gilbert Bezdek and Karen Severin, and uncle, David Bezdek.

Ashley is survived by her mothers, Jamie Kennedy (Jay Williams) of Katy, Texas, and Sheila Bezdek (Cesar Tena) of Stafford, Texas, grandparents Carolyn Bezdek, Verna “Weird Grandma” Hillery (Ed) of Houston, Texas, Lillian Kucera of Stafford, Texas, and Doob, her yellow lab and faithful, yet challenging, companion.

A visitation will be held at Woodlawn Funeral Home, 1101 Antoine Drive at Katy Freeway, Houston, Texas 77055 from 5:00 pm to 8:00 pm on Friday, May 31, 2013. The memorial service will be on Saturday, June 1, 2013 at 10:00 am, also at the Woodlawn Funeral Home. Burial will follow at the Woodlawn Cemetary.  

Note: Ashley and her mother Jamie were very active volunteers of Lynch Syndrome International.  Two months prior to her death, Ashley met with the Mayor of Houston and obtained a proclamation declaring Lynch Syndrome Hereditary Cancer Public Awareness Day. 

 

                                                                  Louise and James Alexander

                                                                  Clinton and Rebecca Carson Family

                                                                  Cabana Pools

                                                                  Cathy Hillery

                                                                  Carolyn Bezdek

                                                                  My Tribute Gift Foundation, Inc.

                                                                  Shannon Richards

                                                                  Janet Fleming

 

                                        

                                                                  

IN MEMORY OF CINDY BETTS 

 

                                                                

Jack and Phyllis Meece

Thomas and Twyla Juehne

William and Sharon Cole

Betty and Rosalyn

Steven and Sue Williams

William and Sharon Cole

Terrell and Molly Lienhart

Ginger Wortman

Edward Jones Region 209

Robert Simis

David and Deborah Wortman

Dr. Brent Laing and Diane Laing

Susan Martina in the name of Patty Wiesehan 

Nancy Vogel in the name of Patty Wiesehan

John Holland in the name of David Wortman

Michael Wortman

Sigma-Aldrich, in the name of Patty Wiesehan

David Hayes

Sarah Kneller in the name of Patty Wiesehan

 

IN MEMORY OF MIMI EISMAN

Anonymous in the name of Ben and Shelley Holmes

 

IN MEMORY OF LELA BETSUKELI

Natia Porter

 

IN MEMORY OF BELINDA TAM-KIMURA

 

Andrea Shilling

Susan and John Yurchak

Myra W. Martin

Jack and Rebecca Parks

Jacqueling LoPresti

Mr. and Mrs. George Hume

Stephen and Christine Young Wright

Marion T. Masuda

Barbara Puglia

Amanda Neel

Sheryl Hembrador

Loren Kimura

Pete Suerken

Susan Kamensky

Sandra Ruliffson

Cynthia Parker

Christine Benoit

Linda Madden in honor of the Kimura Family

Ryan and Jaison Kimura

Grace Morris

Lawrence Oberkfell

Robert Hoffman in honor of Ryan Kimura and Family

Anthony Vallani in honor of the Kimura Family

Margo Feinstein

Michael Gendreau

Basic Foods, Inc

Basic Foods American, Inc.

Liz Hume and Ray Jacobs

John Lehmann in honor of Grace Morris

\/AF}

 

Updated 8/16/2014

 

 

 

 

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

 

Bethesda Criteria:  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)

 

Codon:  Three adjacent bases on a DNA molecule determines the position of a specific amino acid protein molecule during protein synthesis.

 

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.

 

Epcam Deletion:  On chromosome 2, the EPCAM gene lies next to the MSH2 gene. Each gene provides instructions for making protein.  The EPCAM gene causes the MSH2 gene to be turned off, by a mechanism called promoter hypermethylation. It causes too many methyl groups to be attached in the promoter region and they attach to the MSH2 gene, resulting in less protein produced in epithelial cells. Loss of this protein results in loss of DNA repair.  

 

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.

 

Gynecolgist- 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) -  The name of a genetic condition which encompasses Lynch syndrome AND Familial Colorectal Cancer Type X, a familial hereditary cancer condition.

 

Hysterectomy- Surgical removal of the uterus.

 

IHC Testing - (See Immunohistochemistry)

 

Ileoanal pull-through (pelvic pouch procedure, ileoanal anastomosis procedure)- Removal of  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.

 

Missense Mutation:  A missense mutation is a point mutation in which a single nucleotide change results in a codon that codes for a different amino acid. This can render the resulting protein nonfunctional.

 

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)

 

Nonsense Mutation: a genetic mutation in a DNA sequence that results in a shorter, unfinished protein product which occurs when a premature nonsense or stop codon is introduced into the DNA sequence. When it is translated into protein, the protein is incomplete short of the normal therefore, most of these mutations resulted in nonfunctional proteins.

 

Oncologist – A physician who specializes in treating cancers

 

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 which association with hereditary risk is currently unknown.  Persons with a VUS should be managed as though they have Lynch syndrome.

 

 

 

 

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

 

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