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Dr. Clement R. Boland, known as "Rick " Boland, brings to the Lynch Syndrome International Medical Advisory Board an extremely wide perspective of Lynch syndrome--that of a physician and researcher and that of living within a family that has sustained inherited cancer. Born on October 19, 1947 and growing up in Endwell, New York, he went on to graduate from Notre Dame University and, as his father, pursue medicine, graduating from the Yale School of Medicine in 1973. Dr. Boland was one of the very first early researchers of Lynch syndrome writing his medical degree thesis on inherited cancer in 1972, and as with Dr. Lynch, remained persistent in research of families with inherited cancers despite popular medical opinion, at that time, that cancer was not inherited. At that time, Dr. Boland contacted Dr. Lynch, who one year earlier, had published a story in "Cancer" and described a family very much like Dr. Boland's. The rest is history and as a result many lives have been saved as a result of his dedication, tenacity and passionate research. We are extremely fortunate to have Dr. Boland on our Medical Advisory Board. He is open and has a keen understanding of Lynch syndrome survivors and Lynch syndrome families, as well as a very down to earth, effective form of communication in relaying information to individuals without medical backgrounds. Besides being a terrific guy, he's a great researcher and a wonderful doctor. We are truly blessed and owe Dr. Boland a debt of gratitude for the contributions he has made which have contributed to sustaining our lives. More about Dr. Boland Publications by Dr. Boland
Saturday, 27 February 2010 | 1385 hits
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. 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
Monday, 15 February 2010 | 39389 hits
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 Genťtica 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 Genetickť 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 Genťtica Mťdica] Sociedade Argentina de Genťtica Arab States Center for Arab Genomic Studies Bahrain State of Bahrain Ministry of Health Brazil Brazilian Clinical Genetics Society [Socidade Brasileira de Genťtica] Brunei Darussalam Ministry of Health, Brunei Darussalam Chile Sociedad de Genťtica de Chile, Chilean Genetics Society La Sociedad de Genťtica 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
Saturday, 26 March 2011 | 8295 hits
14. Events
PETITION THE WHITE HOUSE TO PROCLAIM MARCH 22ND NATIONAL LYNCH SYNDROME HEREDITARY CANCER PUBLIC AWARENESS DAY! The White House has invited the public to petition them with issues the people feel important. We need 100,000 signatures affixed upon this petition encouraging the President and the White House to sign a proclamation declaring March 22, 2013 Lynch Syndrome Public Awareness Day in the United States. We have 25 days to get it done. Each of us needs to get 50 persons to sign the attach petition. We believe it will help get research for a gene therapy...and funding for care...put on FACEBOOK sites, blogs, everywhere! This is an opportunity we can't afford to miss. Click here to sign! LSI ASSISTS WITH CLINICAL STUDY Lynch Syndrome International is assisting Kristen Dilzell of the Stanford University's Genetics Program. Information regarding the study and links to participate are below. We strongly encourage everyone to participate. Dear Lynch Syndrome International Member and Relatives, You are being invited to participate in a study that is investigating how family members use educational materials to communicate about Lynch syndrome/ hereditary non-polyposis colon cancer (HNPCC). Participants in this study will complete an online survey that will ask a series of questions regarding what materials people gave to their relatives to help explain the diagnosis of Lynch syndrome. We hope that this survey will help educators and health professionals create and distribute the most useful materials for families with Lynch syndrome in the future. This study will be surveying both individuals who were the first in their family to be diagnosed with a Lynch syndrome mutation and their blood relatives. Your participation in this study is completely voluntary and anonymous, and you may stop at any time. Participants must opt-in to the study. Should you choose to participate, you will take an online survey that will take approximately 20 minutes to complete. No identifying information will be collected in this survey. If you are interested in completing our survey and you were the first individual in your family diagnosed with a Lynch syndrome mutation, please go to the following site: If you are interested in completing our survey and one of your blood relatives was the first person in your family diagnosed with a Lynch syndrome mutation, please go to the following site: People who have chosen to pursue further evaluation for Lynch syndrome and people who have not had further evaluation are all eligible to participate. We also encourage you to tell your family members who are/were at risk of carrying a Lynch syndrome mutation about our study and to complete our survey. Recruiting your relatives is not a requirement for this study. However, we are looking to survey as many family members as possible, both those who have chosen to pursue further evaluation for Lynch syndrome and those who have not. If interested, kindly pass along this information to your relatives who are/were at risk of carrying a Lynch syndrome mutation. All participants are eligible to be entered into a prize drawing for one prize of a $50 Amazon gift card. The prize drawing will take place on March 1, 2013 and will be conducted by Kristen Dilzell. No participation is necessary to enter or win a prize and participation does not increase your chances of winning. The winners of this prize drawing will be informed via the email address (or, alternatively, phone number) in contact information provided. To enter the prize drawing, please visit the following site to enter your contact information: Your contact information will be in no way linked to your survey response. If you have any questions or comments about this study, please contact Kristen Dilzell at . Thank you for your consideration. Best, Kristen Dilzell, BS Stanford University, Department of Human Genetics and Genetic Counseling ~LSI ATTENDS OMED 2012~ With much gratitude to the Doctors of Osteopathic Medicine, their national organization, AOA and Ann Fassano of Ann Fassano, Inc., for granting Lynch Syndrome International the opportunity to share information about Lynch syndrome with over 5,000 of their physicians. For advocacy organizations, exhibiting is almost dreaded and is extremely difficult. There is nothing more painful for us, than when those who are entrusted with the responsibility of care for us and in whom we place not only our lives, but the lives of those who we love, don't even bother to look at us as they pass us in the aisles of medical conferences or when asked if we can speak with them, to wave us away from them. It is heartbreaking and devastating as many of us continue to finance LSI and bring about public awareness to protect families and save lives... The Doctors of Osteopathic Medicine restored our faith in medical providers last week and the response was absolutely, wonderfully incredible... Two years ago, we attended their annual conference and personally spoke with over two thousand dollars. At that time, approximately half ignored us and we actively solicited most of the other half. None had ever had a patient with Lynch syndrome, very few had heard of Lynch syndrome and about half a dozen of those with whom we had spoken, knew how to diagnose and manage it. This year, we spoke with over 1300 physicians and medical students, most of whom approached us...the physicians telling us of their recent diagnoses of patients with Lynch syndrome or asking about it--and the medical students advising how they had learned about it in medical school the past year or two and were anxious to begin diagnosing it. The students are energized! One in every five medical students in the United States are attending Osteopathic Medical Schools. It was suggested we work with their association in concert of acheiving public awareness together...and we are exploring a way this can be facilitated. One hospital invited our experts to go on "Grand Rounds" and teach all their physicians about Lynch syndrome and a medical school approached us and advised they would like to be involved in projects involving Lynch syndrome. A trade journal is considering writing an article on the cost saving effects of genetic testing and universal testing of tumors. All were engaged and excited about the possiblities of very long term relationships with patients. All were concerned. Perhaps working with and engaging the DO's is the secret to breaking the barriers of diagnosis of Lynch syndrome. It certainly reinforced that our efforts of public awareness are making a huge difference...and they are welcomed by the gatekeepers who are responsible for diagnosing us and making referrals to specialists for annual cancer screenings. For these three days we are so very grateful...1300 more physicians now know about Lynch syndrome and are equipped to help protect families and save lives. Many have reinforced that they are identifying patients through genetic testing and managing them. We found hope in San Diego, at that conference... Warmth, compassion and true concern was what we desperately needed to see and experience from those in a position of trust...the D.O.s did not let us down! Celebrate National Previvors Day on September 26, 2012! Have a party! Invite everyone. Embrace life! Take your doctors brownies, bake a cake, distribute brochures about LS! Host a fundraising event for LSI! Tell your story to newspapers, magazines, radio talk show hosts! Celebrate! Pay It others protect themselves their families and save lives! Write to us at and we will send you a free package of informational brochures to distribute to medical professionals in your local area, to friends and others and some other "goodies," to celebrate this day! A great way to celebrate is to contact Kasey's Creations of Mexia, Texas and order our LSI t-shirts for yourselves and your family or sell them to raise money for LSI! Every t-shirt order provides LSI with the funding for approximately 20 brochures, 6 wristlets, 40 tattoos. Five (5) t-shirts provides LSI with the funding for 200 brochures, 30 wristlets, over a hundred LSI tattoos! Kasey's Creations of Mexia, Texas is now marketing Lynch Syndrome International gear at reasonable prices! Order your t-shirts, hats and banners now and a portion of the proceeds will be donated to LSI. If there is something special you desire, like a hoodie or a polo, or a shirt of a specific color, be sure and ask...Kasey loves doing speciality items! Want the logo all the way across the front, just ask! Get your orders in now for Lynch Syndrome Hereditary Cancers Public Awareness Day and Relay for Life! NEWSFLASH!!! Thirty five (35) of the forty six (46) or 71% of the United States Governors requested to sign proclamations to declare Lynch Syndrome Hereditary Cancer Public Awareness Day have done so to create public awareness in their state! These states include: Washington Oregon Nevada Arizona New Mexico Oklahoma Arkansas Louisiana Alabama Ohio Maine New Hampshire Vermont Rhode Island New Jersey South Dakota Iowa Michigan Illinois Wisconsin Minnesota Pennsylvania Georgia Massachusetts Virginia West Virginia Nebraska Hawaii Missouri Indiana Colorado Wyoming Montana Connecticut The State of Montana, which does not issue proclamations, sent a letter of commendation, acknowledging the day and Lynch syndrome. LAST YEAR'S LYNCH SYNDROME HEREDITARY CANCER PUBLIC AWARENESS DAY! NEXT YEAR, IT IS ON FRIDAY, MARCH 22, 2013-----MARK THE DATE-----LETS MAKE IT THE BIGGEST EVER! A BIG SUCCESS! LYNCH SYNDROME PUBLIC AWARENESS DAY ON MARCH 22, 2012 -- NEXT YEAR? GET YOUR PLANS READY!!! FRIDAY, MARCH 22, 2013 This last year, many involved with Lynch syndrome from survivors to previvors, to caretakers, to medical professionals, to researchers, institutions, elected leaders and community cancer advocates and organizations stood together to make this the biggest day ever! Thirty-five governors of the United States recognized or proclaimed Lynch Syndrome Public Awareness Day. This was so very important as no other cancer condition is so very treatable as most the cancers of Lynch syndrome and in doing so, we believe these actions of public awareness will not only assist in decreasing the incidents of cancers in those with Lynch syndrome, but will protect families and will save lives. Major institutions such as Sloan Kettering and Northshore Health Systems to the smaller institutions of Sarasota Memorial Hospital, Sutter Health Systems in California and many others celebrated this day with public awareness programs. Congressional Representative Ed Towns from Pennsylvania read information about Lynch syndrome into the Congressional Record, educating our elected representatives and Congressional member John Garamendi awarded Lynch Syndrome International with an award for our efforts. Tens of thousands of brochures were distributed by volunteers working from a grass roots level, to medical providers and members of the general public. Across the nation, individuals wore blue commemorating the day as over a hundred thousand radio spots played information on Lynch syndrome and dozens of newspaper articles and internet blogs addressed Lynch syndrome. Individual medical offices displayed posters and passed out was the single most biggest day in the history of Lynch syndrome! And to its sucess, we are extremely grateful to the thousands of volunteers who stood up and made this day possible! TOGETHER, WE CAN SAVE LIVES AND PROTECT FAMILIES FROM THE DEVASTATING CANCERS OF LYNCH SYNDROME. WE CAN AND WILL MAKE AN INCREDIBLE DIFFERENCE IN THE LIVES OF TENS OF THOUSANDS OF PEOPLE! CAMPAIGNS Volunteers with Lynch Syndrome International are involved in 4 campaigns per year. March - Public awareness campaign for Colon Cancer Awareness Month. During early summer, we participate in a field outreach campaign at the American Cancer Society, Relay for Life events. September - Mass media campaign for endometrial and ovarian cancers November - Family history campaign is initiated prior to Thanksgiving. IF ONE PERSON CAN MAKE A DIFFERENCE, CAN YOU IMAGINE WHAT THOUSANDS CAN DO? They can stand up and make a difference, like.... some terrific volunteers did on November 13, 2011. The Fox Chase Center Center Risk Assessment program celebrated their 20th anniversary and LSI was there. MaryEileen Griffith and Brianna Banford, Lynch Syndrome International volunteer representatives, made certain our voice was there! We are so grateful for what our previvors, survivors, caretakers and medical professionals are doing in the communities to protect families and save lives! few photos of that event! WHAT HAVE WE BEEN DOING In November, LSI hosted a webinar featuring Anya Prince of the Cancer Legal Resource Center, a project of Loyola University in Los Angeles. Anya is the resident expert genetic discrimination law. It was extremely informative and excellent information was shared. On October 22nd, we headed to San Jose and introduced ourselves to hundreds of Internists belonging to the American College of Physicians where we shared information on Lynch syndrome. Good news time! Most were quite knowledgable about it and knew the criteria for diagnostic testing Guess what? Northern California internists, including many of which were from Kaiser Permanente, are onboard with Lynch syndrome! From October 11th through October 15th, LSI we were in Montreal, Quebec, Canada for the International Human Genetics Congress where we met individuals, worldwide, who are doing incredible things so we and our families may live. It was incredible to see individuals working from early morning into the late evenings, sharing information, reviewing one another's clinical studies and collaborating with one another. We had an opportunity to see Dr. Albert de Chapelle from the James Cancer Research Center at Ohio State University, Dr. Mark Clendenning from Australia, some terrific Lynch syndrome researchers from Newfoundland, a couple great ones from the University of Utah, Salt Lake City and many, many other individuals from UCLA Med Center, Baylor University and dozens of other institutions worldwide. A big thanks to the Genetic Alliance and to the American Society of Human Genetics for their kind invitation and sponsorship to this incredible event! October 15th proved to be an exciting evening with the American Cancer Society at their Annual gala, at the community of the LSI headquarters and raising money for support and assistance to those who are fighting cancers. On September 20th, Lynch Syndrome International held its first inaugural webcom featuring Dr. Uri Ladabaum, of Stanford University Medical School. Discussion included pathological tumor testing of Lynch syndrome tumors as a cost effective way to also diagnose individuals who were not previously diagnosed, in an attempt to detect those who either did not know their family history, had no knowledge of hereditary cancers and who may not have met the Amsterdam criteria. Discussed was the cost effective feature of diagnosing indivduals with the Lynch syndrome mutated genes and getting early and preventative treatment to deter cancer development. Research and practices of Dr. Ladabaum and others will enhance the quality of life for many and will protect families and save lives! In September and October, LSI was in Southern California, in the Los Angeles area, spreading information on Lynch syndrome to primary care physicians and public health clinics. We had a chance to drop by and express gratitude to genetic counselors at the City Of Hope and Cedar Sinai. They're doing some great things. We traveled to Sonoma, California to meet health care professionals and share information on Lynch syndrome at the University of California - Davis Healthcare Systems Gastroenterology and Hepatology Conference at "The Lodge" on August 21st and 22nd. Much gratitude to UC Davis -California for providing us this very important opportunity and donating exhibit space. On August 25th, we headed back home to Vacaville and a Lynch Syndrome Awareness Night sponsored by North Bay Health Systems and Myriad Genetics. It was educationally packed evening for professionals and the public, we are thrilled they are actively pursuing public awareness. Vacaville hearts are a major reason why we are headquartered in this great town! September 8th through 10th, we were with the terrific nurse navigators who make life so much easier for those of us experiencing cancer! Yep, we exhibited at their annual conference and rubbed shoulders with Matthew Zachary of Stupid Cancer! and Jonny Imerson of Imerson's Angels, as well as with many other passionate concered persons! When you need help, there is nothing like having a nurse navigator beside you. Visit their website and learn more about these wonderful people! In August, LSI was in Seattle, Washington, meeting with individuals from the Genetic Alliance and contributing input as to the future of personalized medicine upon survivors and previvors as well as how it affected Lynch syndrome. We participated in a day long class that provided essential information on how to develop our own cancer registry and biobank for Lynch syndrome, in order to assist researchers and institutions in obtaining immediate subjects for clinical trials. CALL TO MEETING The annual meeting of Lynch Syndrome International was held on June 24, 2011, at the Marriott Courtyard, 2101 River Plaza Drive, Sacramento, California, from 8:30 a.m. to 4:30 p.m. The morning session involved a meeting of the Board of Directors and installation of some terrific new Directors, including survivors, caretakers and medical professionals. Following a hosted lunch, a general meeting of stakeholders, survivors and previvors took place, to actively plan and organize goals for 2012 public awareness campaigns, support for survivors and previvors and fundraising efforts. 2011-2012 is going to be a great year for LSI, with lots of new events planned! Stay tuned! ITS THAT TIME OF YEAR AGAIN --- GET YOUR TEAMS READY AND REV YOUR ENGINES!!!! PUT OUT THE WORD ABOUT LYNCH SYNDROME AT RELAY FOR LIFE EVENTS WITH YOUR OWN TEAM LSI !!! For those of you who are participating in the Relay for Life events at your local American Cancer Society, they are advising not to distribute brochures. We highly support the American Cancer Society and their outstanding efforts and are proud to be listed within their national directory! So, get out to those Relay for Life events and put out the word about Lynch syndrome! It is there that the best field outreach to cancer survivors will occur and families at risk for Lynch syndrome will be discovered. Just think of all the families that will be protected and the lives saved! Just give us a call or email us and we will send you bracelets for your team and others you find at high risk! TO LEARN MORE: Contact us at: 707-689-5089 Much gratitude to NCCN (National Comprehensive Cancer Network) for sponsoring our exhibit at their Annual Guidelines meeting in Hollywood, Florida. It gave us a wonderful opportunity to meet dedicated physicians, nurses, nurse navigators, physicians assistants and others who are working hard to protect families and save lives and introduce them into our world of inherited cancers. The experiences there were invaluable...and will make a difference in the quality of lives for many! MARCH 30, 2011 IS LYNCH SYNDROME HEREDITARY CANCERS PUBLIC AWARENESS DAY! Some of the nation's finest leaders, including Governor Brewer of Arizona, Governor Hickenlooper of Colorado, Governor Kitzhaber of Oregon, Governor Sandoval of Nevada, Governor Nixon of Missouri, Governor Jindal of Louisiana and Governor Bentley of Alabama have stepped up to the plate and proclaimed Wednesday, March 30, 2011 Lynch Syndrome Hereditary Cancers Public Awareness Day in their states! We are so very grateful to them for caring for those of us at risk for Lynch syndromes and for our families and so very grateful to other leaders who we hope will join them in the days to come! Help us spread the word about Lynch syndrome and join us in our mission to protect families and save lives! Speak to your local newspapers and tell them your story - visit television and radio stations and encourage Public Service Announcements. Share information with your local church and urge your church leaders to put it within church newsletters, bulletins and announcements to the Congregations. Speak to your local organizations about Lynch syndrome and find out the policies of genetic testing within your own health care organizations. Put information out on blogs and upon the internet, write an Op-Ed piece for your newspaper or employment newsletter. Participate in Relay for Life Events and share the information with other cancer surviving families who often don't know. Even wear a T-Shirt with "Ask me about Lynch Syndrome" embossed upon the back. There is so very much we can do to protect families and save lives...all we have to do is put out the word and many, like us, can live far longer than we ever dreamed! All we have to do is put forth the effort and try! WHEN YOU'RE INVOLVED WITH LSI, EVERY WEDNESDAY IS BLUE Whoa, doggies...hold on there! Doesn't the song go, "Rainy days and Mondays always make me blue?" Nope! Not anymore! Its the empowerment of taking control over our health and our lives that is motivating us to turn our selves blue on Wednesdays--that and the realization we do have control over the improvement of longevity of life and the quality of life! So, wear blue on Wednesdays, in dedication to those who came before us and didn't have the opportunities and the blessing we have today and in gratitude to those who made it possible for us. LSI IS NOW ON THE ASSOCIATION LIST FOR THE NATIONAL INSTITUTE OF HEALTH! LSI has been designated as a referral, patient support organization by the National Institute of Health. We are very pleased they accepted our application and are now referring individuals with Lynch syndrome to us for support. LSI IS ALSO NOW A STAKEHOLDER IN THE GAPPNET PROGRAM, SPONSORED BY THE CENTER FOR DISEASE CONTROL! We are so very excited to be involved with such wonderful organizations who are working hard to make a difference in the lives of those who live with the high risk of inherited cancers. We WILL make a difference. LSI WAS ALSO REPRESENTATED AT THE COLLABORATIVE GROUP OF THE AMERICAS - INHERITED COLON CANCERS - IT MAY TAKE A WHILE TO GET THEIR MEMBERS USED TO PATIENT ADVOCATES. ALOHA - ACOG LSI was represented on a panel of experts presenting on Lynch syndrome to a Regional Conference of the American Congress of Obstetricians and Gynecologists in October 2010, in Maui, Hawaii. This past May, we participated in a presentation in front of their National Conference and they were extremely receptive to hearing the stories of the survivors and previvors and the patient point of view. Thank you Doctors, for listening and for caring...and much gratitude to Myriad Pharmaceutical for giving us this opportunity! FAITH BASED AWARENESS CAMPAIGN LSI volunteers have worked on and are currently working on our "faith based" project and asking churches worldwide to join us in our mission of protecting families and saving lives by educating their congregations about Lynch syndrome. Though we are in the early stages of this initiative, we have reached approximately 1000 churches, to date with a total population of congregants of 500,000 people. We have a long way to go. We hope to reach over 25 millon people within the next year, with this effort! It isn't easy work communicating via computer to churches throughout the world...however, we are very fortunate to have dedicated, persistent volunteers who are working hard to make certain this initiative is a success. It can be hard and tedious, but then again...the rewards of life are the goal...advocacy is far more than a quick comment or punching the keyboard to "like" a comment on FACEBOOK....its stepping outside yourself. If you wish to be involved in this campaign, please contact us at Team Great Britain is rocking, as well! Though caring for her own husband, who is ill, Jennifer has been educating thousands of students! Great job...did you know that Great Britain is very involved with LSI public awareness? Linda M., your humor, your passion and your dedication makes you our hero... REVISED: November 11, 2011 UNIVERSITY OF ARIZONA CANCER CENTER Chances are everyone knows someone with cancer. When that person is someone in your family, you might have questions about risks of cancer for yourself or your children. This program brings together experts from the University of Arizona Cancer Center to cover a broad range of topics about assessing and reducing your cancer risk. In addition, a panel of health care providers and survivors will be available for question and answer sessions. BREAST, COLON and BEYOND... Answering Questions about Hereditary Cancer Saturday, November 17, 2012 The University of Arizona Cancer Center Kiewit Auditorium 1515 N. Campbell Ave. Registration and continental breakfast: 8 a.m. Program: 8:30 a.m. – 1 p.m. Free, Pre-registration required Registration and information contact: Cindy Laughren at 626-0950 or
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  Photo Courtesy of Bilal Kamoon 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.   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.   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.   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. 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. 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! 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. 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. .......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.   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!   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."   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.   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.   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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  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 EPCAM and 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 gene therapy, which is commonly referred to as a "cure" for Lynch syndrome, 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 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 a cure 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 colorectal or endometrial tumor, from an individual who has already contracted cancer. These tests 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.  Certain subsets of Lynch syndrome are known to present a high risk of breast cancer to individuals. 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 services which are offered by the many excellent genetic counselors offered as a service by commercial testing laboratories or refer the patient to the services of telephonic genetic counseling. 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. However, bottom line is genetic counseling should be a choice of the individual and not a requirement of the insurance company or the health institution which is administering the test.  No person should be required to attend a separate session, as a percursor appointment to obtain a test which can detect a life threatening condition.  Rather than ignore mandatory attendance with genetic counseling and forego genetic testing, give us a call and let us know so we may be able to assist in finding alternative methods of testing which may be within your own realm of comfort.   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 for a myriad of cancers, 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 5/24/2013
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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 ( 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 Learn More About Colorectal Cancer Through Med Link (In Many Different Languages) National Library of Medicine (Medline) Cancer Prevention and Control 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 Indian Cancer Foundation Black Women's Health Imperative Brenda Mehling Cancer Fund - Assistance For Ages 18-40 Bridge of Blessings - Financial Assistance for Women With Ovarian Cancer Bureau of Primary Health Care CancerCare  Financial Assistance for Cancer Related Costs  Assistance with Co Payments for Chemotherapy and Medicines Cancer CoPayment Assistance Foundation Cancer Financial Assistance Coalition Cancer Service Directory through the National Cancer Institute Cancer Survivors Fund  For young adults, assistance for scholarships and prosthetics Cancer Treatment Center Search through the American Cancer Society American Childhood Cancer Association Cheap  ColonoscopyAssist ($950 colonoscopies, nationwide) Chronic Disease Fund (Good Days) Clinical Center (NIH) Guide to Governmental Cancer Trials Colon Cancer Alliance Co-Pay Relief Cure Search Department of Veterans Affairs Families USA Fertile Hope (Livestrong Fertility Resources)  Conduit to the Sharing Hope program which offers financial resources for reproductivity 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 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 Nativve American Cancer Research  - Providers Financial Resources And Navigates Native Americans Through Resources NCI Designated Cancer Centers Needy 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 The C.H.A.I.N Fund Inc.  Co-pays, Subsistence, Assistance While Fighting Cancer 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 (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 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. 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. 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.   Angel Med Flights, Scottsdale, Arizona (Worldwide) 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 7/11/2013    
Saturday, 26 March 2011 | 16346 hits
19. Glossary
    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 РA 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.    
Saturday, 16 February 2013 | 2714 hits
¬† ¬† WELCOME TO THE LSI LIBRARY! Offering a host of resources on Lynch syndrome. ¬† ¬† GUIDELINES: ¬† Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts. ¬†Gut.¬†2013 Jun;62(6):812-23. doi: 10.1136/gutjnl-2012-304356. Epub 2013 Feb 13. EGAPP Recommendations¬† Translation Updated July, 2012 Revised Bethesda Criteria, 2004 Amsterdam II Criteria American College of Gastroenterology Guidelines February 2009 AGA Guidelines for Colorectal Cancer March 2008 Guidelines Tor The Clinical Management Of Lynch Syndrome by Dr. Hans Vasen 2007 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 NCCN Guidelines - Need to Register To Obtain Access NCHPEG Tools and Guide PDFs¬† 2013 Revised 10/04/2013 ¬† 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¬ģ) 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 NCI - Warrent Grant Magnuson Clinical Center¬†Genetic, Clinical, and Epidemiological Study of Individuals and Families at High Risk of Cancer¬† Focuses on Familial Brain Cancers and Bladder Cancers, Bone Cancers 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 Na√Įve Patients With Advanced/Metastatic Urothelial Carcinoma Ineligible for Cisplatin-based Chemotherapy Memorial Sloan Kettering¬†Gemcitabine and Cisplatin as Neoadjuvant Chemotherapy in Patients With High-Grade Upper Tract Urothelial Carcinoma 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 Free CME Credits and Classes Through NCHPEG and the AMA - Colorectal Cancer, Is Your Patient At High Risk? Genetics Cancer Review - Expires 2014¬†ASCO¬†1.5 CME Credits ¬†$25 - $32 Preimplantation Genetic Testing - Expires 2014 (Cleveland Clinic) 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 10/4/2013 ¬† ¬† ¬† ¬† 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 the¬†spectrum 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 ¬† 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 Risk of Urothelial Bladder Cancer In Lynch Syndrome Is Increased, In Particular, Among MSH2 Mutation Carriers JMedGenet2010¬†¬†Netherlands Study, Radboud University 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. Risk for Urologic Cancer Linked to Risk for Colorectal Cancer WebMD CME Library 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. A Study From France: ¬†21.3% Of All Upper Urinary Tract Urothelial Carcinomas May Have Underlying Lynch Syndrome As a Cause. 6/15/2012 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 ¬† 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¬† 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 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. Unusual Presentation of Lynch Syndrome London Study 2009, Male Breast Cancer 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. Early Onset Breast Cancer In A Lebanese Family With Lynch Syndrome Due to MSH-2 Gene Mutation, Rizk Hospital, Beirut, Lebanon 5/28/2009 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. 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 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. 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 ¬† Small Bowel Adenocarcinoma Phenotyping, a Clinical Prognostic Study,¬†Suggests molecular alterations in small bowel adenocarcinomas (SBA) are closer to those in colorectal cancer (CRC) than gastric cancer, with low levels of HER 2 overexpression and high frequencies of KRAS mutations. Seemingly higher frequency of MMR deficiency (dMMR) than in CRC may be explained by higher frequency of¬†LS¬†in SBA patients. A dMMR phenotype was significantly associated with a non-metastatic tumour (P=0.02). A trend for a good prognosis and a duodenum or jejunum primary site was associated with dMMR.British Journal of Cancer advance online publication, 5 November 2013; doi:10.1038/bjc.2013.677 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. Parent of Origin Effects On Age At Colorectal Diagnosis Large collaborated study of many institutions concluded affected daughters of affected fathers were, on average, younger than affected sons of affected mothers.¬† Results need confirmation in an independent study before cliinical significance can be determined. Distinct Mutations in MLH1 And MSH2 Genes in Hereditary Non-Polyposis Colorectal Cancer HNPCC Families From China 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. 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. 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. 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 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. 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. 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 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 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 Genetic Testing Strategies in Newly Diagnosed Endometrial Cancer Patients Aimed at Reducing Morbidity or Mortality from Lynch Syndrome In the Index Case or Her Relatives ¬†(Allison Stewart, PhD, CDC Consultant) ¬†9/16/2013 Risk of Colorectal Cancer after Diagnosis of Endometrial Cancers: ¬†A Population-Based Study article by Science Daily¬† October, 2012 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. 8/2012 ¬†From the Archives of Gynecology and Obstetrics,¬†study reinforces endometrial sampling is essential for women with Lynch syndrome. 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. 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. 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. 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 Endometrial Cancer and Lynch Syndrome, Moffit Hospital, MD Anderson 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. 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 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. US/Canadian study recommends reflex testing for all endometrial cancers. 7/2012 Researchers Propose Screening For Lynch Syndrome In All Patients With Newly Developed Endometrial Cancer 4/2011 Hysteroscopy In Diagnosing Lynch Syndrome ¬†Endometrial Cancer Screening In Patients With Lynch Syndrome ¬†J Clin Oncol 29: 2011 (suppl; abstr 5108) Association of Lynch Syndrome and Invasive Cervical Cancer ¬†J Clin Oncol 28:15s, 2010 (suppl; abstr 1501) ¬† OVARIAN CANCER ¬† 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. 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. 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. Endometrial and Ovarian Cancer Screening and Prevention In Women With Lynch Syndrome¬† 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 ¬† 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 Lynch Syndrome Tied to Breast and Pancreatic Cancer 2/21/2012 Hereditary, Pancreatic and Hepatobiliary Cancers ¬†International Journal of Oncology 2011 ¬†Paper discussing the risk and studies regarding pancreatic cancer and Lynch syndrome ¬† PROSTATE CANCER ¬† 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. Prostate Cancer Found In Lynch Syndrome Patient 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. 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. Hereditary, Pancreatic and Hepatobiliary cancers ¬†- International Journal of Oncology, 2011 ¬†Paper discussing risk and studies regarding pancreatic cancer and Lynch syndrome. Manchester UK study discovers a ten fold risk of prostate cancer has been determined with MSH2. ¬†Other significant findings are also noted. ¬† Ohio State Study: Prostate cancer incidence was not increased in this relatively large cohort of LS patients. ¬† SKIN CANCER/MUIR TORRE-GLASTIOBLOMA ¬† 8/6/2012 ¬†Dr. Maxwell Fung, University of California - Davis, discusses IHC - MSI testing of tumors for Muir Torre ¬† 2012 Article, University of California-Davis, Mt. Sinai Dermatology Online ¬†Muir Torre - Turcot Syndrome overlap? 8/2012 ¬†MSH-6 Family Detected With Muir Torre 7/2012 ¬†Mismatch Repair Protein Deficiency Is Common In Sebaceous Tumor Neoplasms 7/2012 ¬†Polypoid Adenoid Carcinoma Detected in the Efferent Jejunal Loop following gastrectomy in a Muir Torre Patient. ¬† 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 Glastiobloma Multiforme In the Muir Torre syndrome: From Johns Hopkins A New Mutation In Muir Torre Associated With Familiar Transmission Of Different Gastrointestinal Adenocarinomas - Hungary 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 ¬† Italian Researchers have discovered prevelance of Muir Torre associated with the liver in a Lynch syndrome family. 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. From the Journal of Investigative Dermatology 7/6/2006, an excellent, comprehensive¬†article on Muir Torre ¬†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 Brain Cancer and the Lynch Syndrome,Genetics Department, University of Helsinki, Finland, ¬†September 2012 Anaplastic oligodendroglioma in an adolescent with¬†lynch syndrome, 12/19/2012 ¬†Queensland, Australia ¬† THYROID, FIBROUS HISTIOCYTOMA,¬†SARCOMAS, NEUROENDOCRINE TUMORS ¬†AND CORTICAL CARCINOMA ¬† 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 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. 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. Sarcomas Associated With HNPCC, according to a study at the Clinical Research Center, Copenhagen, Denmark, dated 1/8/2009 . 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 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 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 A Molecularly Confirmed Neuroendocrine Tumor in Lynch Syndrome, Washington University, St. Louis, MO 7/2012 THE MUTATIONS Inversion of Exons 1-7 of MSH2 Gene Is A Frequent Cause of Unexplained Lynch Syndrome In A Local Population 10/11/2013 MSH2 Mutation Carriers Presents With More Extracolonic Cancers, than MLH1 Mutation Carriers. ¬†10/10/2013 Constitutional Mismatch Repair Deficiency Syndrome-Biallelic Condition: ¬†Diversity of the clinical presentation of the MMR gene biallelic mutations ¬†9/26/2013 MSH6 Cancer Risk: ¬†Laura Baglietto, Noralane M. Lindor, James G. Dowty, Darren M. White, Anja Wagner, Encarna B. Gomez Garcia, Annette H. J. T. Vriends, Dutch Lynch Syndrome Study Group, Nicola R. Cartwright, Rebecca A. Barnetson, Susan M. Farrington, Albert Tenesa, Heather Hampel, Daniel Buchanan, Sven Arnold, Joanne Young, Michael D. Walsh, Jeremy Jass, Finlay Macrae, Yoland Antill, Ingrid M. Winship, Graham G. Giles, Jack Goldblatt, Susan Parry, Graeme Suthers, Barbara Leggett, Malinda Butz, Melyssa Aronson, Jenny N. Poynter, John A. Baron, Loic Le Marchand, Robert Haile, Steve Gallinger, John L. Hopper, John Potter, Albert de la Chapelle, Hans F. Vasen, Malcolm G. Dunlop, Stephen N. Thibodeau, Mark A. Jenkins ¬†Conclusion: For MSH6 mutation carriers, the estimated cumulative risks toages 70 and 80 years, respectively, were as follows: for colorectalcancer, 22% (95% confidence interval [CI] = 14% to 32%) and44% (95% CI = 28% to 62%) for men and 10% (95% CI = 5% to 17%)and 20% (95% CI = 11% to 35%) for women; for endometrial cancer,26% (95% CI = 18% to 36%) and 44% (95% CI = 30% to 58%); andfor any cancer associated with Lynch syndrome, 24% (95% CI =16% to 37%) and 47% (95% CI = 32% to 66%) for men and 40% (95%CI = 32% to 52%) and 65% (95% CI = 53% to 78%) for women. Comparedwith incidence for the general population, MSH6 mutation carriershad an eightfold increased incidence of colorectal cancer (HR= 7.6, 95% CI = 5.4 to 10.8), which was independent of sex andage. Women who were MSH6 mutation carriers had a 26-fold increasedincidence of endometrial cancer (HR = 25.5, 95% CI = 16.8 to38.7) and a sixfold increased incidence of other cancers associatedwith Lynch syndrome (HR = 6.0, 95% CI = 3.4 to 10.7). 8/5/2012 ¬†Cancer Risks of the Danish MLH1 Mutation of Lynch syndrome Fibrous Histiocytoma found in two German Families with MSH2 - 2038C and MSH2 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 China study detects esophaegal cancer risk as a result of polymorphism of MSH-2 and WRN¬† 12/2011 Malignant Fibrous Histicytoma detected in German Families with MSH2, Exon 13¬† 12/2011 Cancer Risks Teased Out In Lynch Syndrome - French study assessed 537 families with MSH1, MSH2 and MSH6 gene mutations to determine risk by age, tumor¬†and other factors.¬†¬†Conclusion:¬† Risks were higher in families with MSH1 and MSH2¬†had higher risks of cancer and the risk in MSH6¬†was lower and cancers ordinarily orginated at a younger age Lynch Syndrome TACSTD1 Family with Predominant Colorectal Cancer:¬† J Clin Oncol¬†28:15S, 2010 Germline mutations cannot be found in MMRs MLH1 and MSH2¬† in about 30% of families satisfying the Amsterdam Criteria.¬†Recently, deletions in the TACSTD1 gene have been identified as a cause of LS. ¬†Conclusion:¬† Identification of these mutations as a cause of LS allows family members to identify their cancer risk, receive genetic counseling and obtain annual surveillance¬†management. ¬†HT Lynch and¬†Others; ¬†Conclusion: Identification of TACSTD1 mutations as a cause of LS has important cancer control implications for this and other LS families thereby enabling family members to identify their cancer risk, receive genetic counseling, and enroll in an appropriate cancer surveillance/management program. Extracolonic cancer risk may be decreased in TACSTD1 mutation carriers but this will require further confirmation Risk of Colorectal and Endometrial Cancers in EPCAM Deletion-Positive Lynch Syndrome: A Cohort Study Netherlands¬† 1/2011¬† EPCAM Deletion Carriers have a high risk of colorectal cancer and only those with deletions extending close to MSH2 have an increased risk of endometrial cancer. Epcam Deletion Carriers Constitute A Unique Subgroup of Lynch Syndrome Patients, Netherlands ¬†12/23/2012 ¬†Discusses EPCAM deletions, how the size and location of the gene may affect the risk of cancer...¬† Determining the Frequency of De Novo Germlike Mutations in DNA Mismatch Repair Genes The Clinical Phenotype of Lynch Syndrome Due to Germline PMS2 Mutations Excellent study explaining in depth the clinical characteristics ofPMS2 mutation carriers, which has not been explored in depth up until this point. by Human Cancer Genetics Program, The Ohio State University Comprehensive Cancer Center Columbus, Ohio¬†Discipline of Genetics, Faculty of Medicine, Memorial University of Newfoundland, St John’s, Newfoundland¬†Cancer Prevention Program, Fred Hutchinson Cancer Research Center, Seattle, Washington Karolinska Institute, Department of Molecular Medicine, Stockholm, Sweden¬†Department of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, Rochester, Minnesota¬†Department of Medical Genetics, Mayo Clinic College of Medicine, Rochester, Minnesota¬†Queensland Institute of Medical Research, Brisbane, Queensland, AustraliaAdult Clinical Genetics, The University of Melbourne, Victoria, Australia Centre for MEGA Epidemiology, School of Population Health, The University of Melbourne, Victoria, AustraliaJournal of the National Cancer Institute, 2010 102(3):193-201; doi:10.1093/jnci/djp473 Germline Analysis of the hPMS2 Gene in Chinese Families With HNPCC¬†8/2012 Risks of Lynch Syndrome Cancers for MSH6 Mutation Carriers From the Journal of the National Cancer Institute, Risks of Lynch Cancers for MSH6 Mutation Carriers Conclusion: We have obtained precise and accurate estimates of both absoluteand relative cancer risks for MSH6 mutation carriers. Correlation Between Clinical Pathological Parameters and Family History To Detect Mutations in MLH1, MSH2 and MSH6, Spain¬†2011 Conclusion:¬† The most important clinical feature to predict the presence of a mutation in the genesMLH1, MSH2 and/or MSH6 in families with HNPCC is the diagnosis of endometrial cancer (univariate analysis). Study indicates¬†¬†Amsterdam criteria and each of the Bethesda criteria were inadequate for identifying¬†MSH6¬†mutation-carrying kindreds.¬†MSH6¬†mutations may be more common than currently assumed, and the penetrance/expression of¬†MSH6¬†mutations, as derived from families meeting current clinical criteria, may be misleading. To increase detection rate of MMR mutation carriers, all cancers in the Lynch syndrome tumour spectrum should be subjected to immunohistochemical analysis and/or analysis for microsatellite instability. Researchers from Australia find a new method to detect new mutations in mismatch repair genes. Study from University of Rouen, France, indicates the median age of CRC onset was 43 years, a significant difference of CRC penetrance between males and females and between MSH2 and MLH1 mutation verus MSH6 mutation carriers. Results are in agreement with published studies, which estimate cumulative CRC risk at 70 years is higher in males than females and is lower in MSH6 mutation carriers, compared to those with MSH2 and MLH1. PSYCHO-SOCIAL ¬† 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. 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 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. 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. 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. National Cancer Institute Page On Psycho-Social Studies Of Those With Lynch Syndrome ETHNIC¬†AND CULTURE¬†STUDIES ¬† Gynecologic cancer screening and communication with health care providers in women with Lynch Syndrome¬†Clin Genet.¬†2013 Jul 31. doi: 10.1111/cge.12246¬† Fam Cancer ¬†Lynch Syndrome in High Risk Ashkenazi Jews In Israel ¬†8/30/2013 A novel germline MLH1 mutation causing¬†Lynch Syndrome¬†in patients from the Republic of Macedonia¬† 10/2012 Evaluation of MLH1 1219V Polymorphism in Unrela ted South American Individuals Suspected of Having Lynch Syndrome. ¬†10/2012 ¬† 6/2012¬†¬†Study concludes¬†MSI-High appears lower in Korean patients with colorectal cancers 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. Characteristics of Lynch Syndrome In Thirteen Hispanic Families: Ricker; Hereditary Cancer in Clinical Practice 2010 8 (Suppl 1) P. 19 Clinicopathologic and¬†Genetic Features of Chinese ¬†Hereditary Nonpolyposis Colon Cancer, Shanghai Institute for Biological Science (Abstract) 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. 8/2012¬†Germline Analysis of hPMS2 gene in Chinese Families with HNPCC Esophageal cancer risk is associated with polymorphisms of DNA repair genes MSH2 and WRN in Chinese population ¬†2/2012 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. 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. 12/12/2010¬†A new mutation of Lynch syndrome¬†within Exxon 13 has been found within a Spanish family. 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. 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. Hereditary Nonpolyposis Colorectal Cancer/Lynch Syndrome In Korean Patients With Endometrial Cancer 7/11/2012¬†A Unique Mutation in MSH2, Exon 8 Accounts For A Major Portion Of Those With Lynch Syndrome in Sardinia 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. 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 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). Hungarian Researchers discuss the Q48P Mutation of the MLH1 Gene In Three Hungarian Families¬† 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. 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. 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. 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 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. ¬†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. 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. 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 10/4/2013 ¬† ¬† ¬† ¬† ¬† ¬† ¬† ¬† ¬†
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