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Photo - Courtesy of Drew Herron REGIONAL REPRESENTATIVES AND THE LSI BUDDY PROGRAM Lynch Syndrome International is an all volunteer organization with NO person, within the organization, personally compensated for their good efforts. The Directors of LSI are all Survivors, Previvors, Medical Professionals and those who care for us and who have a special knowledge and experience with Lynch syndrome. The heart of LSI is within our global regions and within the regional representatives and dozens of LSI volunteers as they operate the grass roots public awareness programs, learn of the resources available in the area for those with Lynch syndrome and provide public awareness to members of the community and local support to those with Lynch syndrome. Our representatives, when available, do travel on a regional basis to conferences, exhibitions and public events and do speak locally on behalf of public awareness for Lynch syndrome. Lynch Syndrome International volunteers come from all walks of life, come in all ages, all colors and some speak various different languages. exactly the same as the diverse populations in our communities as Lynch syndrome is not discriminatory. It doesn't care if you are black, brown, yellow, red or white, or male or female, or a specific religion or sexual preference. It prefers the young but will strike at any age...therefore, we have developed a network of Moms, Dads, students, caretakers and everyday people with Lynch syndrome or who are familiar with Lynch syndrome to be available to be there during time of need. Lynch Syndrome International offers "Buddy to Buddy" networking whereupon individuals at high risk for Lynch syndrome can meet and interact with others who are also at high risk. Our regional representatives provide support for individuals who have Lynch syndrome through the "Buddy to Buddy" program. To make certain you are immediately contacted by someone who shares your interests and your background, contact us via email at or by phone at 707-689-5089. Only those who have had a personal experience with Lynch syndrome can truly understand the feelings individuals go through with the initial diagnosis of Lynch syndrome and/or the cancers of Lynch syndrome. Our mission is to be here for one another.
Saturday, 26 March 2011 | 384 hits
A TRIBUTE TO DR. HENRY T. LYNCH Lynch syndrome is about families and if anyone understands that, it is Dr. Henry T. Lynch, the founder. Today, many of us with Lynch syndrome exist, only as a result of this wonderful, caring man and his family who have given and sacrificed so very much so we and our families may live. Words can never express our gratitude but hopefully our global actions will. Our mission is to carry his mission forward for the generations to come--to work together as a team ---- survivors, previvors, medical professionals, genetics professionals, research professionals, governmental agencies, educational facilities, communities-- to find the over 600,000 individuals of which only 5% are diagnosed and to protect families and save lives from devastating cancers and to do so working within the true tradition of Dr. Henry Lynch. With Immense Gratitude For All He Has Done So Our Families May Live--- Team LSI Often referred to as the father of hereditary cancer, Lynch is a pioneer in the study of cancer and genetics. Part of the international team that discovered the location of one of two known genes involved in hereditary breast cancer, Lynch and his early cancer research significantly influenced how physicians and researchers treat and study hereditary cancers today. Lynch’s groundbreaking research in the 1960s into the medical history data of two extended families led him to the discovery of cancer family syndrome (CFS), also known as hereditary nonpolyposis colorectal cancer (HNPCC) or Lynch syndrome. Though not an actual cancer, Lynch syndrome strongly predisposes people who have this inherited defect to develop colorectal cancer as well as several other types of cancer. Lynch’s use of statistics to prove the genetic link to certain cancer types was unique from other researchers at the time. Born in Lawrence, Massachusetts on January 4, 1928, Lynch grew up in New York City. He joined the U.S. Navy at 16 using a falsified birth certificate and served in Europe, the Philippines and as a gunner on a marine ship in the Pacific during the Second World War. After being discharged from the Navy in 1946, Lynch stepped into the ring and became a professional boxer. He earned the nickname “Hammerin’ Hank” while boxing in upper New York State and in the San Francisco area. Lynch received his bachelor’s degree from the University of Oklahoma in 1951 and went on to earn his master’s degree in clinical psychology from the University of Denver in 1952. He received his doctorate degree in human genetics at the University of Texas, Austin, before completing medical school at the University of Texas, Galveston, in 1960. Lynch then interned at St. Mary's Hospital in Evansville, Ind. and completed his residency in internal medicine at the University of Nebraska College of Medicine in Omaha, Neb. Lynch was an assistant professor at the University of Texas M.D. Anderson Hospital and Tumor Institute in Houston prior to joining the Creighton University School of Medicine faculty in 1967. In 1984, Lynch established Creighton University's Hereditary Cancer Prevention Clinic, an interdisciplinary clinic that provides information and services related to hereditary cancers. He is currently chairman of Preventive Medicine at Creighton University, and the holder of the Charles F. and Mary C. Heider Endowed Chair in Cancer Research.
Wednesday, 01 August 2012 | 7046 hits
HELP WANTED Big hearted, strong willed,courageous individuals to help LSI achieve our mission or protecting families and saving lives! Minimum qualifications: Must have passion, warmth, commitment, loyalty and dedication for active, busy, exciting position. Work from your own home. Set your own hours. Up and coming organization with great coworkers. Occasional travel ! Meet new people. Terrific pay. What, no pay? Yep, no pay...EVERYONE involved with Lynch Syndrome International is a volunteer, from our Executive Board, to our Scientific Medical Board, to our Executive Director, to our Project Managers, to our Regional Representatives. We are a true, not for profit, 501(c)(3) TOTALLY volunteer organization and propel forward on people power, fueled by passion and commitment to protect families and save lives. We are seeking volunteers who are willing to fill the following volunteer positions and/or assist with one, two or even all of the following tasks: Regional Grassroots Coordinators Manage LSI Operations in your region: Facilitate the LSI Buddy to Buddy Program Facilitate Regional LSI Support Groups Arrange and Organize Relay for Life Events Conduct Regional Public Awareness Campaigns for LSI Occasional travel to regional conferences Organize Regional Fundraising Events Report Events and Activities for Newsletter Internet Communications Coordinator who, by email, will contact public agencies, organizations, medical centers, etc., to link to our website and maintain content on their sites about Lynch syndrome. Thousands of Volunteers who will Act as buddies to newly diagnosed previvors and survivors Work with LSI at four annual public awareness events Open up your hearts and your souls to journalists for public awareness events Participate in educational outreach events such as Relay for Life and local conventions. Distribute LSI publications to medical offices and other targeted locations. Participate in Relay for Life Events, promoting Lynch syndrome and hereditary cancers Work at local events, educating others about Lynch syndrome Participate in fundraising efforts for LSI Utilize life and learned skills to enhance the organization, including assisting in writing grants, soliciting organizations for fundraising, making radio spots, filming television ads, writing articles for newspapers, conducting studies of insurance company coverage, medical physicians volunteering services for genetic testing and for screening, researching and providing local resources for individuals with cancers, etc. There is no end to what one can do to volunteer. Lobby local lawmakers for badly needed changes Engage in organized letter writing campaigns to change guidelines and enhance screening measures. Raise funding for research Get involved in clinical trials, providing needed information to protect families and save future generations. We realize, as Survivors, sometimes the energy simply isn't as robust as our hearts and our passions. We understand, admire and respect the priorities of family, friends and simply living life to the fullest, as it should please don't volunteer more than what you can comfortably offer, without jeopardizing any other commitment in your life. There are many, many survivors who are working as hard as forty hours a week and many who can only do several hours a month. That is fine...we can all contribute in our own way...WE are the ones who will make the needed changes! Between all of us, we should be able to move mountains...and win battles...on our life and one family at a time... Please contact us in order to volunteer!
Monday, 15 February 2010 | 13912 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 | 39256 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 | 8275 hits
Friday, 15 February 2013 | 10100 hits
  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.  
Tuesday, 09 February 2010 | 35409 hits
  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
Monday, 15 February 2010 | 31917 hits
        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 | 16229 hits
10. 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 | 2675 hits

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