141. Donate
  Thank you for considering donating to LSI. Lynch Syndrome International is a 501 (c)(3) public charity, IRS Tax ID 27-0571530. All donations are tax-deductible as allowed by law. LSI is an all volunteer organization and no person involved with it is compensated for their good efforts. As such, our operational costs are minimal and all donations are utilized toward project based efforts. One hundred percent of donated funds are utilized toward LSI targeted projects and basic operating costs. Ten percent of all general donations received is targeted toward assistance in financing research endeavors and ten percent of all non-targeted contributions is directed toward providing financial assistance for patients. The remaining funding goes toward our public awareness projects, including Lynch Syndrome Hereditary Cancer Public Awareness Day each March 22nd of each year, providing tens of thousands of physicians with information on Lynch syndrome each year, exhibiting at trade shows, working with organizations and coalitions to promote Lynch syndrome awareness and education, sponsoring Lynch syndrome events through the country and across the globe, distribution of publications, creation and distribution of radio spots, recruiting for Lynch syndrome clinical trials and advocating for hereditary cancers with state and federal lawmakers. In order to stretch every dollar received, we operate on a shoe string and are truly depression proof. In lieu of paying the over $200,000 cost of maintaining a headquarters, expensive insurances and benefits, staffing and other overhead, we work off modern technology, receiving our software for meetings, communication and conferencing from in-kind donations or though nonprofit donation services. We strongly rely upon in-kind donations for operational cost line items and for conversion into cash, such as our Ebay auctions. Currently, approximately ninety (5%) percent of our cash funding is derived from the generosity and passionate commitment of members of our Board of Directors. Approximately 85% comes from our base of those affected by Lynch syndrome and 10% from corporate sponsorship. We anticipate this to dramatically change in the future as corporate and civic groups have begun to embrace us, during our fourth year of operation. Every dollar counts! Each is the equivalent of nine brochures. $50 is the equivalent of 500 brochures, one of which most likely will reach a Lynch syndrome family and perhaps save five to ten lives from inherited cancers. LSI operates as a true nonprofit, in every sense of the word and our success is directly attributed to the outstanding volunteers who are passionate in working with us, in a grassroots manner, throughout the world.   HOW TO GIVE Lynch Syndrome International utilizes JUSTGIVE.ORG, a nonprofit organization, to process all our online and credit card donations. It is a fast and user friendly process to contribute toward a very worth cause that will protect families and save lives. Simply click on the green link below.   We also utilize Paypal.   Shop at AmazonSmile .   Lynch Syndrome International   Another method for contribution is through This occurs by utilizing merchants, nationwide, who will donate a certain percentage of what is spent to LSI. We encourage individuals to consider this by simply registering with them and shopping with their online merchants.     If you wish to contribute by check, please mail the check, made payable to Lynch Syndrome International to:   Lynch Syndrome International 3650 South Pointe Circle  Suite 205-9 Laughlin, Nevada  89029 702-298-3911   If you have any questions about donating, please don't hesitate to contact us at the phone number listed above or through email.   Thank you for your compassion. You may rest assured your contribution will protect families and save lives.        WITH IMMENSE GRATITUDE TO THE FOLLOWING ORGANIZATIONS, FAMILIES AND TRULY TERRIFIC INDIVIDUALS, WHO HAVE STOOD UP AND JOINED US IN OUR MISSION OF PROTECTING FAMILIES AND SAVING LIVES BY DIRECT DONATION, IN KIND DONATIONS OF GOODS, COLLATERAL OR SERVICES TO ASSIST US IN PROMOTING PUBLIC AWARENESS AND EDUCATION OR BY SPONSORING PROJECTS WHICH DIRECTLY OR INDIRECTLY BENEFIT LYNCH SYNDROME IN OUR MISSION TO PROTECT FAMILIES AND SAVE LIVES...                                    TO YOU, WE ARE ETERNALLY GRATEFUL--- AS WITH YOUR HELP, MANY WILL LIVE!                      Champion Exposition Services (Exhibition Space) Kraft Foods Foundation Minerva Medical Communications Oxford Communications Estes Refrigeration Merit Dining Group, Santa Monica, CA. Kaiser Permanente - Northern California Cumuli, Inc., Manchester, Washington Delve, LLC Vanguard Charitable Endowment Program, Boston, MA. U.S. Cellular Beckett Gas, Inc. Metro Exhibits Myriad Genetics Edward Jones Investments ASCO NCCN American Society of Human Genetics National Coalition of Oncological Nurse Navigators Midwest Regional Chapter Of the American Cancer Society American College of Physicians National College of Physicians, Northern California Region Intuit Microsoft Adobe Systems Pier 39, San Francisco Citrix Genetic Alliance Google, Inc. N2N Security OMED Ohio Talent Seekers Tahoe Joe's Restaurants University of California, Davis Medical School California State Department of Public Health International Congress of Human Genetics Colon Cancer Challenge Foundation Soroptomist International Amgen, Inc. WG Health Systems Canvas and Cocktails, Inc., Denver, Colorado Lamar Signs, Topeka, Kansas Your Cause Trustee for PG&E     A Special Thank You To the Following Persons Who Are Dedicated Toward Those With Lynch Syndrome and Who Have Contributed Immensely Toward Lynch Syndrome International by Donating Time, Services, In-Kind Donations, Promoting Lynch Syndrome, or Direct Contributions To Lynch Syndrome International Projects:   INDIVIDUALS AND FAMILIES   Dr. Sapna Syngal - Dana Farber Dr. Henry Lynch - Creighton University Dr. Uri Ladabaum, Stanford University Anya Prince - Cancer Legal Resource Center Scott Weissman, MS, Northshore University Health System Dr. Patrick Lynch, MD Anderson Dr. Stephen Lanspa, Creighton University, Omaha, Nebraska Dr. Hans Vasen, Leiden, Holland Dr. Jane Green Dr. Dawna Gilchrist Sir John Burn, Great Britain Dr. William Grady, Fred Hutchinson Cancer Center Dr. John Potter, Fred Hutchinson Cancer Center Dr. Rick Boland Deb Duquette, Michigan Department of Public Health Peggy Cooper, University of California, San Francisco Robin Bennett, University of Washington Cristi Radford Margo Thelan Deb Duquette Andy Pignataro Agency A Little Insight, Vacaville Northshore Healthcare Sloan-Kettering MD Anderson Mayo Clinic Ami Blanco, UCSF Dr. Noralene Lindor, Mayo Clinic Jackson Medical Supply Delva LLC San Francisco Giants Players Toyota of Vacaville Western Digital Corp. Meyers Corp. Resenser Hotels Napa Valley Wine Train Pier 39, San Francisco, California De Young Museums San Jose Sharks San Diego Chargers Oakland Raiders San Francisco 49ers Vida Blue Brandon Crawford Michael Huff Sheryl Crow Jeffrey Leonard Shawn Estes Scott Garretts Mark Davis Jack Clark JT Snow Chili Davis Disneyland Knotts Berry Farm Kasey's Kreations, Mexia, Texas Chardonnay Golf Club, Napa, California Mustards Bar and Grill, Napa, California Pampered Chef Waste Management Corporation Simmons Management Group, College Park, Maryland David Wakefield Blue Ridge Services, Abingdon, VA. Judith Ruggiero Susan Olson John Nelson Dr. Elizabeth Herrman Myriad Genetics D.L. Ryan Companies, Ltd. Cabana Pools, Houston, Texas Edward Jones Company The Rhoades Family The James Snelling Family for Jason Snelling The Samson Family The Stephen and Linda Bruzzone Family for Hap Snelling, Marcella Snelling Jacob The Beth Fairfanks Family The John and Cheryl Stark Family The Fabiani Family The Hamilton Family The Michael O'Hara Family Eileen Grubba The Joseph Roberson Family Maureen Clark Family The Mandy Matthews Family Julie Libman Family Cheng Family In Dedication of Uygen Tran The Jamie Loveland Family in Dedication of the Lynady Family Alexis N. Smith Brian Sullivan Robert Burke Family Roque Collazo Family Joey Crupi Joshua Harris Anthony Giordano Family In Dedication of Jennifer Palumbo Frederick Barbieri Family for Jennifer Palumbo Donna Harran for Jennifer Palumbo Joseph D. Crupi Family for Jennifer Palumbo Margaret Spinelli in the name of Louis Maniscalco and in the memory of Amy Maniscalco in the name of Josephine and Mike Reitano Amy Berman Dr. Alison Beltzer Spinetto Family John Ranieri Family The Stephanie Meyers Family Frank and Helen Bruzzone Trust JoAnn De Francesco Constance Menafee Alyssa Moss dedicated to Carolyn Moss Anonymous dedicated to Steve and Linda Bruzzone Brian Sullivan dedicated to Joseph Crupi Terrie Arnold Family Sally Ortgies Family Dr. Sypna Syngal, Dana Farber The Popa Family in Honor of the Birthday of Linda Manson Linda L. Gibb in Honor Of The Birthday of Linda Manson Gail Kennedy In Honor of The Birthday of Linda Manson The Philip Alward Family The Virginia Brannan Family Janet Peirce Family Jennifer Taylor Family Margaret Davison Family Dr. Sypna Syngal, Dana Farber Bernard A. and Gabrielle Fenster Family R Ramspacher Family The Caspers Family JoAnn DeFrancesco Selena Martinez Family Leanna Dabney Family Kelli Uldahl Family Kringle Family Andy Pignataro Agency A Little Insight, Vacaville, CA. Toyota Vacaville Serrato Family Ashley Thompson Helen Reynolds Jay Yerkes Robert Spratt Family Brownridge Family Judith Reed Vaughn Family Barb Kringle The Gilbert Family Lynn Tufield in Honor of the Birthday of Eileen Grubba The Gillingham Family The Stevenson Family The Knights Family The C. Serrato Family Ashley N. Thompson Helen Reynolds Jay Yerkes The Robert Spratt Family Ludwig Family K.F. Brownridge Family K. Vaughn Family Richard Brown Family Betty Beaird Lynn Marie Killops In Honor of the Summer Family In Honor of the Caspers Family Latwa-Koko Family Ken Oxley Tim Krenik in Honor of Julie Krenik Gabrielle Fenster in the Memory of Mary Augustine In Memory of Kate Murphy M. Martin Family VonMosch Family The Jill Chang Family The Hufford Family J. Bennett Family Barry Bresler Family David Wortman Family Jamie Loveland In Honor of Jenn John Sawasky Family Kim and Kathleen Sawasky Family C. Lennon Family E. Longmore Family P. Whitworth Family Sharon Francz Myra Martin Beth Darmstadter Elizabeth OBrien Glenn Brown Emily Atkins Cindy McClain                                IN TRIBUTE TO TEAM COURAGE - THE SISTERHOOD OF THE TRAVELING GENES Through extensive family tree research and genetic counseling, the seven children of Sam and Audrey Wetzel, one by one were genetically tested for Lynch Syndrome following the death of their mother, Audrey, who passed away, March 7, 1991, of colorectal cancer. Three children were diagnosed, Stephanie Wetzel-Toole, Marlene Wetzel-Bloomfield and Gerri Wetzel-Schoutko who are now undergoing a journey of embracing life. Together, with family and friends, they created a family organization...The Sisterhood of the Traveling Genes, to create public awareness and is supporting LSI. Their journey continues….with 19 children, between Stephanie(7), Marlene(7), and Gerri(5), they now face the task of having each of the children genetically tested, praying they flipped the coin heads up and did not inherit Lynch Syndrome. It is a journey to be proactive… Aug. 2012 Marlene Wetzel-Bloomfield had a complete hysterectomy followed by Stephanie Wetzel-Toole who had her complete hysterectomy in Dec. 2012. Having this surgery Stephanie and Marlene removed a huge part of the risk of developing endometrial cancer. With all pathology reports clear for Marlene and Stephanie they both breathed a sigh of relief. A journey that has thankfully had all three sisters getting colonoscopies proactively for 15 years. Knowing their mother died so young and so fast, we wanted honor her memory and be proactive in their health. Stephanie and Marlene’s journey is not over. To remain cancer free they will have to be vigilant with our health and stay on top of our wellness with yearly screenings. A journey that led their family to find out Gerri Wetzel- Schoutko, who in Jan. 2012 became the seventh family member to be diagnosed with cancer. At age 44, nine years after her first cancer diagnosis, Gerri was diagnosed with a second cancer, Endometrial Cancer. A journey that has recently shown the cancer, malignant thymoma, that Gerri was diagnosed with nine years ago at age 36 has reoccurred. And, finally, a journey which lead them to step out of themselves and into the world to promote public awareness for others and to live outside honor of them...and of their family which is standing behind one another and helping others.   Beth Darmstadter, honoring Marlene Wetzel-Bloomfield,  Elizabeth O'Brien in the name of Stephanie Wetzel-Toole Glenn Brown, Emily M. Adkins in the name of Stephanie Toole, Cindy McClain, Teresa and Joel Andreani in the name of Stephanie Wetzel Toole Anthony LaCerva, Jennifer Lybarger, Alan Chonco, Elaine Breiner in the name of Team Courage and Stephanie Wetzel Toole Jessica Kaminski, Anna P. Schoutko in honor of Gerri Wetzel Schoutko, Jeremiah and Diane M. Dunleavy D.C. and Paula Thompson, Timothy and Mimi R. Burke, Ellen Breiner in honor of Stephanie Wetzel-Toole Debbie Donofrio in honor of Stephanie Wetzel-Toole, Timothy Murnane in honor of Stephanie Wetzel-Toole, Jesse Sawyer Linda Carter, Brenda Budzar, Sandra Maggio, Mary Ellen Volpe, Daniel Jones     Marlene Wetzel-Bloomfield Family                                       Mary Ellen Volpe Stephanie Wetzel-Toole Family                                           Sandra Mazzeo Daniel Jones                                                                     Teresa and Joel Andreni Family Anthony LaCerva Family                                                    Jennifer Lybarger Family Alan Chonco Family                                                           Elaine Breiner Jessica Kaminski                                                               Anna P. Schoutko Gerri Wetzel Schoutko                                                       Jeremiah Dunleavy Family Timothy and Mimi Burke Family                                          DC and Paul Thompson Family Debbie Donofrio                                                                Bethany Jackson Marc Ramsey Family                                                          Jesse Sawyer Lynda Carter                                                                     Timothy Murnane Terry Zimmer                                                                    Mariellen Griffith Family Peter Bennett                                                                     Sandra Mazzeo Team Courage Thomas Bullock in honor of Stephanie Wetzel-Toole               Margo Aprile Jeannie Silver in the name of  Team Courage                        Patrick Ilwee in the name of Stephanie Toole Bethany Jackson in the name of Kerry Murphy-Duarte            Daniel Stefancin Nassim and Corinne Lynch                                                   Kevin and Melissa Meehan in n/o Stephanie Toole A & J Colarusso                                                                  Glen and Tony Northrop in the name of Wetzel-Toole Danette and Edwin Arlinghaus                                              Patrick  and Cynthia Hyland Sheila T. Becker                                                                  Arthur and Diana M. Gold Michael and Maureen Chambers                                            Christopher and Amy Kemp David and Tamara Show                                                      Joseph and Ann Schleckman Robert and Elizabeth Bullock                                                 Diane and James Ridge Thomas Jordan and Mary Ellen Jordan                                    Brian and Ann Horning David and Chr istine McCallum                                              Mary Anne and David Smith Gina and Dino Tianello                                                          Maryann and Thomas Boyer Daniel and Anna Slattery                                                       Laura Wise-Maher Timothy and Nancy Rowell  Team Courage                             Thomas E. Giffels and Ann Giffels Julia and Jeffrey Tullos                                                          Richard and Catherine A. McCarthy Michelle and Jonathan Jarc                                                    Dawn and T heodore Bilski     Brendan and Mary Gannon                                                    John Coleman Robert and Josephine Litten                                                   Gregory and Marlene Bloomfield Judy Kautmowan                                                                  Kurt and Susan Brocone Janet Tyburski                                                                      Suzanne Olesksy Gilbert and Barbara Sherman                                                 Jennifer Ontko Matthew and Melinda Lashutka                                               Toni Northrop Elaine Breiner                                                                      Anonymous in the Name of Janice Rettig                 Team Courage - Sisterhood of the Traveling Genes 2014 - Jill Chang Gang - With Gratitude   Dawn and  Theodore Bilski                 Mary Jo and David Farr                   T.C. and J.L. Andreani   Carol D. Fier                                        Peter and Pamela Barnes              John R. Coleman Peter Barnes and Katherine Barnes   William & Celia Dorsch                    Brendan and Mary Gannon Joseph & Ann Schleckman                   Janice & James Rettig                    Patrick & Cynthia Hyland Karen Levis                                         Todd and Mary Gannon                 Arthur and Diana Gold Gary and Ann Bish                               Caroline R. Evilsizer                      Gina and Dino Tianello Timothy and Patricia Jarus                   Dennis and Barbara Unger           Vicki and John DeMarco Timothy and Dawn Liston                    David and Christina McCallum       Christian Chang Glenn Brown                                        Duane Kunze                                 Mary Gannon Janice Rettig                                        Tony Northrop                                Peter Kwiatkowski Elaine Breiner                                       Michelle George                             Kathleen Markling Laura Grahovac                                    Kelsie Brown                                  Glen Brown Duane Kunze                                        James Power for Mary Gannon      Anonymous for Janice Rettig Sherry Parker                                       Frederick Slezak                             Matthew Zugg Cindy Leonard                                      Laura VanDale                               Laime Breiner Chantal Walsh                                      Lauren Lowell                                Madyson Kessler Halle Krells                                            Linda Mathers                               Hannah Allenson Isabelle Romeo                                     Cari Cisar                                      Phil Kasumell Kathy Francescani                                 Susan Streitel                               Rebecca Wetzel Hannah Marek                                       Kelly Reissue                                Dede MacNamee Gold Jessica Paul                                           Maggie Hoffert                              Elaine Gregory Iselin Dimacchia                                     Louise Gorman                             Jordan Family Mindy Conway                                       Rose Zychowski                            Brian Conroy Kari Horning                                          Katie Barnes                                 Michelle Klepatzi Becky Boatmen                                     Anne Giffels                                  Katie Marklin Melissa LeMasters                                 Marie McNamara                            Jacob Ott Susan Lattham                                      Julie Herman                                Tony Northrop Elaine Breiner                                       Anonymous for Janice Rettig           Kathleen Markling               Ginger Withers-Withers, allace Hawthorne House dedicated toward Jill Chang Jane Deutschle in honor of Linda S. Mather, Mollie Mather in honor of Linda Mather, dedicated to Betty Simpson Carolyn Dumond in Memory of Brad Horn, Daniel Dicesare in dedication to Linda Mather    Michelle George in the name of Jill Chang James Powers in the name of Mary Gannon                                    Mary Popa In honor of Linda Manson Linda L. Gibb in honor of Linda Manson The Mathews Family in honor of Laura Leigh Wetsel and Rebecca Martin The Nagel Family in honor of Laura Leigh Wetsel and Rebecca Martin The Vaughn Family in honor of Laura Leigh Wetsel and Rebecca Martin Edward and Lori Hunt Family Daniela Dau Brenda Moore Robert and Karen Gay Family Patty and Brad Whitson Family Richard and Audra Alexander Family Barry Jackson William and June Smith Family Timothy and Rebecca Wortman Family Rita Kiscaden Leo and Cindy Thurlow Family Michael and Sarah Haas Family Michael Wortman Family Robert Sims Family David and Debra Wortman Family Joseph and Jennifer Holifield Family Tonya and Chris Duckett Family Susan Snapp Family Gregory and Sandra Fahn Family John and Linda Maloney Family Guy and Pamela Austin Family Gary and Kim Wright Family Bryan and Misty Hawk Family Kathy Thomason Family Lee and Jamie House Family Thomas and Mary Graham Family Stewart and Kris Fisher Family Tony and Tammy Harmon Family Donna McCarty Family Matthew and Kristie Carr Family Patrician Wiesehan Family Lindsey M. Wortman Family Brad and Vanessa Baker Family Daniel Jones Family Oneida Hotaling-Covert Family in Honor of Jen Schoen and All Those With Lynch Syndrome Angelo and Sharon Centrone Family Clinton and Rebecca Carson Family Louise and James Alexander Family Wendy Silverman Family Judy Mitchell Family Larry Geier Family dedicated to Danielle Ripley Burgesss Natia Porter, memorializing Lela Betsukeli Janelle Guthrie dedicated to Gene and Jeanette Foster Margaret Spinelli dedicated to Josephine and Mike Reitano in memory of Amy Maniscalco Margaret Spinelli dedicated to Louis Maniscalco, in memory of Amy Maniscalco Bethany Jackson dedicated to Kerry Murphy Duarte Diana Catargiu Kathlelen Weinberg, With Sympa thy to the Family of Lawrence Heidenreich Scott Yount Reagan Callahan David Hayes Sarah Kneller Dana Catargiu Kathleen Weinberg Scott Yount Reagan Callahan Linda Mather Linda Ronca in Memory of Paula Rubin Patricia Elliott Cathy Mills Mary Bolton in the name of Chris Bolton Barbara Kringle Family Susan Rosen in the name of Cathy Nobil Dutton Jennifer Cords in the name of Dianna Olnhauser Rae Therrien Family Cheryl Stark Family In the name of Linda and Steve Bruzzone William Harb, MD, Nashville TN Julie Libman Douglas L. and Tonja Baker Family Jamie Loveland in Honor of Jenn Bethany Jackson in honor of Kerry Murphy-Duarte Scott Eaton in honor of Michelle George Angela Teles in memory of Paula Rubin Susan Rosen dedicated to Cathy Nobil Dutton Rae Therrien Family Mary Bolton dedicated to Chris Bolton Jennifer Cords dedicated to Dianna Olnhausen         Updated 4/9/2014       Step Out In Style With LSI Bling!!!!!   ...with this stunning Lynch syndrome awareness bracelet, and help Lynch Syndrome International save lives and protect families, as well!       Hand crafted from luster pearls, with a Swavorski crystal core, the sheen of the Lynch cancer colored pearls are radiant, as each is centered between beautiful, Swavorski crystals...graduating back toward sterling silver coated beads.  A beautiful, subtle, quality item for all the women in the family, representing support and remembrance of all those loved ones who have lived and lost as a result of Lynch syndrome, it serves as an everconstant reminder to always remember to embrace the beauty of life.   Reflecting the colors of the cancers of Lynch syndrome, the pearls and silver beads  represent:   Gold (Yellow) - Childhood Cancer and Bladder Cancer Teal -Ovarian Cancer Dark Blue - Colorectal Cancer Pink (Peach) Endometrial and Breast Cancer Lavender - Pancreatic, Esophagael Silver - Gynecological Cancer (New Zealand)       Ovarian Cancer, Australia Brain Cancers Muir Torre Green:  Renal Pelvic Cancer         Liver Cancer Periwinkle Blue:  Prostate Cancer  - Esophagael Cancer   The one difference between the bracelet depicted and that actually delivered is a periwinkle blue pearl resting between the gold pearl and the sterling pearls, which makes it even more beautiful.   This classy bracelet is a great way of making a very strong statement of empowerment.  It is perfect as a gift for your loved ones, or for the physician, the genetic counselor, or that very special nurse who cared for you or your loved ones!  Delivered in a beautiful, quality box and just in time for Christmas!     Sizes:   Small (6")   Medium (6.5")  or Large (7")            Order yours today......   $32 per bracelet covers postage, handling and for those in California, California State tax.  Buy more than one and save!  Two for $60, three for $87, four for $110 and 5 or more at $26 each!   Order by sending a check to:   Lynch Syndrome International 3650 South Pointe Circle  Suite 245-9 Laughlin, Nevada 89209    or pay by Pay-Pal (See previous page for the link) providing your address and telephone number for mailing and the number and sizes of bracelets desired.  (This may indicate donation, however the purchase of goods does not qualify for tax deducations and in abidance with state and federal laws, LSI does not issue receipts for purchase of goods.            
Monday, 15 February 2010 | 20015 hits
.style1 { text-align: center; } THE VERY FIRST LINE OF DEFENSE IN THE SURVIVAL OF LYNCH SYNDROME IS KNOWING ONE'S FAMILY HISTORY Lynch syndrome is inherited through families in an autosomal dominant manner. This means an inherited mutation of the mismatch repair gene, coupled with a normal gene will produce children that have an estimated 50-50 chance of contracting Lynch syndrome. The ONLY way to diagnose Lynch syndrome effectively is first through a careful review of the family history. What the physician is looking for are three individuals, two of which are directly related to the third and who have sustained a Lynch cancer. (Colorectal Cancer, Endometrial Cancer, Gastric Cancer, Ovarian Cancer, Hepatobiliary Cancer, Pancreatic Cancer, Ureter Cancer, Renal Pelvic Cancer, Skin Cancer (Muir Torre), Prostate Cancer, some subsets of Breast Cancer and Brain Cancer.) This basically leads the physician to determine whether or not to prescribe genetic counseling and/or genetic testing which, if positive, allows individuals diagnosed with Lynch syndrome to obtain annual screening tests to detect cancers early, when they are often treatable and not life threatening. Generations of a Lynch Syndrome Family - A Personal Story Knowing family histories and sharing them with physicians not only helps protect us in avoiding certain hereditary illnesses and predispositions to chronic conditions but alerts us to possible complications which could occur during surgeries and conditions which can affect recovery. An added benefit is it allows us to learn of family traditions and stories of the trials and tribulations of our ancestors which can also greatly assist in achieving a strong recovery and survivorship. A good first step toward this process is to view the free, public resource available through the Surgeon General's Family Health Initiative addressing documenting your family history. Their site has software available for use to document and print out the family history for family members and the health care provider. In addition, it has the capabilities for the family history to be downloaded into the medical file in your physician's office. After reviewing it carefully, sit down with your parents and ask them their medical backgrounds, questions about their lives. Where were they born? What ethnicity were they and their ancestors? How and where did they grow up? Were they raised in the city or on a farm--in a small town or in a major metropolitan area? How did they get their water -- from a well, or a municipality? What did they eat and how was it prepared? What was their life like? Did they work in factories or spray crops? When and where were they born? Were they ever ill or hospitalized? Did they contract any cancers? At what age? If so, where was the cancer located? Where were they treated? These questions are extremely important as environmental factors have every bit as much of an effect on cancers as hereditary factors and can provide clues into what familial or inherited cancer condition one may have. Everything is interrelated when it comes to cancer. Therefore, list every occupation, every situation, everything those ancestors did and when, where and at what age it occurred. Ask about their parents, grandparents, brothers and sisters, nieces and nephews and pose the same questions you asked about your parents' past and lifestyles. Every answer they provide will render little clues as to the information you will need to protect yourself and your family. In many families, adults and other family members have often kept health matters private and may at first appear uncomfortable about answering these questions. It is important to ask the right questions and to prompt them and job their memories as to where there was removal of colon polyps, skin melanomas, abdominal surgeries, brain disorders and hysterectomies. Be certain to document each and every one. When documenting the family history, don't forget to ask about hysterectomies. Today, one of three women have had a hysterectomy. This information can significantly provide clues or information to create a direct relationship as endometrial cancer may be equally as prolific in Lynch syndrome as colorectal cancer. Its also not unusual for family members to have little or no knowledge of how grandparents, aunts and uncles or cousins died so simply ask them when and where...then go to the local library or newspaper office and research the obituary or pull the death certificate from the state or country department of vital records. When preparing a family history, its a good practice to not limit one's self strictly to Lynch syndrome, but to document every possible condition parents, siblings, children, grandparents, aunts, uncles, nieces, nephews, cousins and ancestors could have had. This process is often eye opening and can provide a totally new perspective in respect to other potential unknown health conditions. While performing research upon our ancestors and related family members, it only helps us to learn not only how they died but what our ancestors endured in life. This can prove invaluable toward our own sense of survival. The characters of our ancestors can serve as clues as to how they survived unthinkable conditions. Those clues may dramatically help us weave our way through the survival process. In reflecting upon how they lived and managed despite incredible adversity, we can draw from their strength. Once the family history is provided to the doctor, he/she will assess it and by the use of online tools or by expertise, will determine the level of risk for inherited conditions and whether or not to refer you to a genetic counselor or grant a direct referral for genetic testing. The taking of a family medical history is considered a "standard of care," taught to all physicians at all medical schools and is considered "good medicine." However in today's quickly evolving technical world, there are an overwhelming number of things for physicians to know. Therefore, it is reasonable to assume your physician, gynecologist, urologist, dermatologist, obstetrician or pediatrician may not be aware of Lynch syndrome. We may have to provide our care providers with guidelines and resources so they may become familiar with it. A family medical history will assist health providers in not only determining risk and patterns that may be relevant to one's own health but also provide them with information to recommend prevention tools to reduce the risk of disease, decide what diagnostic tests to prescribe, assess whether or not genetic tests are necessary, diagnose a condition that may not otherwise have been considered, determine whether or not other members of your family are at risk for disease and other measures that could be life saving. The family medical history won't predict your future health but will allow you to know if you are at high risk for disease, life threatening or chronic conditions. The past provides clues to our futures so we and our families may remain happy, healthy and intact. Researching your family medical history is not only good sense and a loving thing to do, not only as parents, but as a responsibility of a patient to provide to the care provider. LINKS FOR FAMILY HISTORY RESEARCH Family Medical History Information from Ohio State University American Medical Association Article on the taking of a Family History Family History Tools from the National Genome Research Institute Family History tool by SFGenomics Reviewed 4/10/2014
Monday, 15 February 2010 | 20814 hits
143. About Us
  MISSION STATEMENT The primary mission of Lynch Syndrome International (LSI) is to serve our global communities by focusing on providing support for individuals afflicted with Lynch syndrome, creating public awareness of the syndrome, educating members of the general public and health care professionals and providing support for Lynch syndrome research endeavors. LSI, an all volunteer organization, is founded and governed by Lynch syndrome survivors, their families, and health care professionals who specialize in Lynch syndrome. If diagnosed early, we believe Lynch syndrome survivors have favorable outcomes which enhance survival, the longevity and quality of life as well as the emotional well-being of the afflicted. With the provisions of knowledge, caring and respect for those living with Lynch syndrome, coupled with a common theme of a prevalent positive attitude, we can be change agents, enhancing hope and survivability, impacting the life of countless thousands of people throughout our world. SCIENTIFIC ADVISORY BOARD Henry T. Lynch, MD Chairman -Founder of Lynch Syndrome, Northshore University Healthcare System, Creighton University Cancer Center, Omaha, Nebraska Albert de Chapelle, MD Ohio State University, Human Cancer Genetics Program, Columbus, Ohio C. Richard Boland, MD -Baylor Center University Medical Center, Dallas, Texas - American Gastroenterological Association Patrick Lynch, MD -University of Texas, MD Anderson Cancer Center, Houston, Texas Jane Green, PhD Memorial University of Newfoundland, St John's, Newfoundland, Canada Dawna Gilchrist, MD -University of Alberta, Alberta, Canada Hans Vasen, MD -Leiden University Medical Center, Leiden, Netherlands and the Netherlands Foundation of the Detection of Hereditary Toumours Stephen Lanspa, MD -Creighton University, Omaha, Nebraska   EXECUTIVE BOARD We are pleased to announce the following Board of Directors of Lynch Syndrome International, for 2013-2014, which represent survivors, previvors, caretakers, medical professionals and researchers of Lynch syndrome.  Lynch Syndrome International Directors are working directors and actively direct and organize events within Lynch Syndrome International.  All indviduals involved with the organization are volunteers and receive no compensation for their benevolence and countless hours of effort. We are very grateful for their contributions to this all volunteer organization. Linda Bruzzone – President/Executive Director  Operations/Fundraising Barbara Fabiani – Vice President Secretary   Operations/Fundraising Dave Wortman – Treasurer     Financial Oversight Susan Olson – Brentwood, California/Survivor  Young Previvors and Survivors Liaison Beth Fairbank – Brisbane, Australia /Previvor    Australia Liaison Todd Neil – Winnepeg, Canada /Previvor   Canada Liaison Wolfram Nolte- Germany /Survivor    European and Germany Liaison Judith Ruggiero –  Vacaville, California /Previvor   Public Policy Liaison John Nelson – Las Vegas, Nevada/Survivor  Native American Tribal Liaison Michelle Miller, LCSW – Denver, Colorado /Survivor Bill Harb, MD – Nashville, Tennessee / Medical Provider  (Liaison With Medical and Research Organizations) Cristi Radford – Sarasota, Florida/Genetic Counselor (Chairs Medical Professional and Patient Education) Carrie Snyder - Omaha, Nebraska/RN-Genetic Counselor (Chairs Medical Curriculum-Research)   WEBSITE SUPPORT David Wakefield, Webmaster   ENDURANCE COORDINATOR Meg Davis – Endurance Coordinator   CONTACT US Lynch Syndrome International 3650 South Pointe Circle  Suite 205-9 Laughlin, Nevada  89029 Telephone: 702-298-3911 Please do not hesitate to contact us with any questions you may have. REGULATORY  INFORMATION On 7/1/2009, Lynch Syndrome International was incorporated as a not for profit organization within the State of California and is registered with the Office of the California Secretary of State. Lynch Syndrome International, Inc. has been granted 501(c)(3) status as a not for profit, tax-exempt charity by the United States Government, Internal Revenue Service. Lynch Syndrome International, Inc. has been granted tax exempt status by the State of California, Franchise Tax Board.  It is also listed, in accordance to California State law with the Office of the California State Attorney General, Charitable Trusts Division and registered with the California State Board of Equalization and California State Franchise Tax Board.   SITE CONTENT This website is developed and maintained by Lynch Syndrome International.  All medical information on this site is supported by recent studies and specific source information is linked to the direct study. The specific section for professionals is reviewed by medical professionals and information is sourced with the specific studies.  Within the section for survivors, the information has been compiled by survivors and, in some cases, in collaboration with experts.  As well, specific information has been sourced.  If question arises regarding information, please contact The website of Lynch Syndrome International is Honcode Verified and reviewed for certification by Honcode for meeting trustworthy health information.   ADVERTISING At this point, Lynch Syndrome International is not offering advertising opportunities upon the website, however, in the future, following Board of Directors approval and development of an ethical advertising policy, advertising may be available and utilized upon this site.   PRIVACY We at LSI respect your privacy.  We do not collect, distribute or display personal identifiable information on visitors to this site. In the absence of a signed waiver, any articles, tips or submissions will be credited to the senders initials only. From time to time, we may have a member of the media requesting an interview with a Lynch syndrome Survivor, Previvor or with a health care professional with expertise in Lynch syndrome. You may be assured your personal identifying information or contact information will not be provided and in that event, we would contact you and upon your agreement to participate, would respond directly to the request. We do not maintain a bulletin board or blog on this site however do have an organizational support and information site on We are not responsible for any content placed upon the Facebook site or have any control over the privacy of the identities and contact information for individuals.   DISCLAIMER The content upon the website of Lynch Syndrome International is for informational purposes only.  It is not intended to replace professional medical opinion or advice. We strongly recommend our readers seek the advice of their physicians or otherwise qualified healthcare professionals with any questions they may have about any condition. It is not the intent of this organization for persons to rely upon information on this site for diagnosis or treatment of any condition.  We strongly recommend our readers seek and utilize the services of an expert, qualified healthcare professional for consideration of any diagnosis or treatment of any condition. We do not endorse any treatments, brands or manufacturers of any materials used for diagnosis or treatment of any condition. Any opinions written upon any of the pages on this site are the opinions of the writers and not those of Lynch Syndrome International.  Reliance upon anything written by any person associated with Lynch Syndrome International and/or within this site is   solely at your own risk. Due to the nature of the cancers inflicted by Lynch syndrome, some subject matter within the site may be graphic and to some, considered offensive.  Access to this material is at your own risk. All matter on this site is subject to United States and international copyright laws.  Copying and/or reproduction of this material is by specific, written permission only.     This site complies with the HONcode standard for trustworthy health information:  verify here.   Search only trustworthy HONcode health websites: Modified:  3/12/2014 - changed LSI address & tel      
Monday, 13 May 2013 | 22106 hits
RECOMMENDED SCREENING FOR LYNCH SYNDROME CANCERS Colonoscopy: Annually, beginning at age 20-25, or ten years younger than the earliest age of diagnosis in the family, whichever comes first. NCCN guidelines (NCCN Version 2.2013) state two to five years prior to the earliest age of diagnosis in the family, and to repeat every 1-2 years. NCCN Guidelines reflects: There are data to suggest that aspirin may decrease the risk of colon cancer in LS, however, at this time, the data are not sufficiently robust to make a recommendation for its standard use. For those with MSH-6, NCNN guidelines (NCCN Version 2.2013) state every two to three years beginning at age 30 - 35 and every two years until age 40 and then every one to two years. NCCN does not provide management guidelines for the extracolonic cancers of those with MSH-6. They advise prophylactic hysterectomy and oopherectomy following childbearing years. For those with PMS-2, NCCN guidelines (NCCN Version 2.2013) state colonoscopy to begin at age 35-40 and continue every two to three years until age fifty. At that time, colonoscopy screening should be followed every one to three years. For those with PMS-2, NCCN guidelines do not provide management guidelines for the extracolonic cancers of those with PMS-2, including recommendation for endometrial cancer. Endometrial Sampling: Annually, beginning between ages 30-35 NCCN Guidelines reflect despite no current scientific evidence, annual endometrial samplings may be useful in select patients. (NCCN Version 2/2011) Transvaginal Ultrasound: For Endometrial and Ovarian Cancer: Annually beginning ages 30-35 NCCN guidelines determine this is at the clinician's discretion. CA-125: For Ovarian Cancer. While there may be times screening can be helpful, NCCN has determined data does not support routine ovarian screening for LS. (NCCN Version 2/2011) Ultrasonography With Cytology: Annually, beginning at age 25-35 (NCCN Guidelines, Version 2.2011 refer to an "annual urinalysis.") Gastroscopy: NCCN guidelines have now been revised. "There is no clear evidence to support screening for gastric, duodenal, and small bowel cancer for LS. Selected individuals or families or those of Asian descent may consider EGD with extended duodenoscopy (to distal duodenum or small jejunum.)" Colon Resection: For individuals with active colon cancer that cannot be removed by colonoscopy. Subtotal colectomy favored with preferences of patient actively elicited. The National Comprehensive Cancer Center Guidelines recommend a total abdominal colectomy with ileorectal anastomosis in the event of adenomas not amenable to endoscopic rescection. (NCCN Guidelines Version 2.2013) Hysterectomy and/or Oopherectomy: Discuss as an option after childbearing years to deter the high risk of gynecological cancers. NCCN's revised guidelines have listed this as a guideline for all but those with PMS-2 mutation. Dermatological Examination: For Muir-Torre (lesions of the skin including sebaceous adenomas, sebaceous epitheliomas, basal cell epithelioma with sebaceous differentiation, sebaceous carcinoma and squamous cell cancer (keratoacanthoma type.) NCCN has not addressed Muir Torre. Other tests may be ordered at the discretion of the Clinician to include screenings for pancreatic cancer, CNS cancer, prostate cancer, liver cancer, gallbladder cancer and renal-pelvic cancer. NCCN has added a statement about pancreatic cancer: "Despite data reading an increased risk for pancreatic cancer, no effective screening techniques have been identified, therefore, no screening." NCCN has added the following regarding breast cancer: "There have been suggestions that there has been an increased risk for breast cancer in LS, however due to limited data, no effective screening techniques have been identified, therefore, no recommendation is possible at this time." Updated: 6/22/2013
Monday, 15 February 2010 | 22657 hits
    Women face additional risks of contracting cancer as a result of having Lynch syndrome, including an extremely high risk of endometrial cancer.  Endometrial cancer may be far more prevalent than previously thought and ongoing research is studying the prevalence. As well, women face an approximate 12% lifetime  risk of contracting ovarian cancer, which often appears symptomless and is difficult to diagnose at an early stage. Breast cancer has been identified as an integral component of LS, based upon mismatch repair germline mutation factors in breast cancer tissues from family members who are not only at high risk, but, moreover, who had Lynch syndrome cancers, such as involving the colorectum.  Breast cancer is exceedingly common in the population and, therein, its occurence in Lynch syndrome families could be due to chance, but importantly, a subset will likely be integrally related to a germline mismatch repair Lynch syndrome mutation in some LS families.  Therefore, it is prudent to mount a screening and management program for Lynch syndrome in those families where breast cancer is believed to be an integral lesion. (For more on breast cancer, visit the LSI Library for the up to date studies) Due to this, it is extremely important women consult with their gynecologist and schedule annual gynecological surveillance screenings, beginning between the ages of thirty to thirty five years of age. In addition to the annual PAP smear, the examinations should include: A pelvic exam; An endometrial biopsy; A vaginal ultrasound; A CA-125 blood test; Annual PAP smears; Annual mammograms; And if a family history of breast cancer exists, discussion with your physician as to whether an additional screening method is necessary.     Research into Lynch syndrome is relatively new and in the past there were not yet enough studies to determine evidence of the effectiveness or screenings.   These can be located at however, very little is stated regarding the women's cancers of Lynch syndrome. Australian and other international studies have explored the possibility of an association between Lynch syndrome and cervical cancer.  The jury is out as to whether or not there is a direct association and/or the extent of that association.  It is prudent to obtain annual PAP tests to insure early detection even if you have undergone a total hysterectomy with salpingo oopherectomy.   Forewarned is forearmed and in order to protect one's self, discuss creating an annual screening management program with your gynecologist.  For more detailed information on women's cancers and the women's risk, MD Anderson has outstanding resources upon their website.  Additionally, studies regarding Lynch syndrome women's cancers are available upon this site, under the LSI Library. Following child-bearing years, to reduce the risks of uterine and ovarian cancers, women with Lynch syndrome should seriously consider prophylactic (preventative) surgery to reduce the high risk of contracting endometrial and ovarian cancer.  This is especially important as often there are few or no symptoms of gynecological cancers and screening tests are not all that accurate in detecting women's cancers at an early stage.   The standard procedure utilized is referred to as a full abdominal hysterectomy with bilateral salpingo-oopherectomy (removal of the uterus, cervix, ovaries and fallopian tubes). As a result of modern technology, the surgery today is much easier for recovery and sometimes hospital stays are as short as 5 hours. Nonetheless, it is important to realize it is still a serious surgery and full recovery takes months. Prophylactic surgery, recommended following child bearing years, is often a "win-win" situation, protecting us from Lynch cancers and saving many women the "misery" of having to endure perimenopause, that up to ten year period of time prior to completion of menopause.   THE SURGICAL PROCESS Over 600,000 hysterectomies are performed each year and by the age of sixty, one in every three women, in the United States, has undergone hysterectomy.  Almost 90% of all the surgeries are elective (chosen) procedures, rather than lifesaving procedures.  A common practice, the majority of surgeons who perform hysterectomies are pretty experienced.
Monday, 15 February 2010 | 27235 hits | Read more
  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 | 31924 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 | 35415 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 | 39261 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®) 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 Naïve 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                  
Saturday, 27 February 2010 | 41168 hits
Photo Courtesy of Marco Pompei   Medicine is not merely a science but an art. The character of the physician may act more powerfully upon the patient than the drugs employed. -~ Paracelsus          Understanding the busy schedule of the professional, the following pages are quick guides for professionals to acquaint them with the basic knowledge of Lynch syndrome and how to diagnose and manage the disorder.      More detailed information to supplement these pages can be found by clicking on the LSI Library link on the Main Menu, to the left of this page, whereupon selected studies are available as well as clinical trials, registries, patient payment assistance programs, anti-discrimination laws and other resources relative to Lynch syndrome.      Simply follow the links on the top right to review the basic steps toward diagnosis of the Lynch syndrome.                                                                               INTRODUCTION       Lynch syndrome is part of a syndrome known as hereditary nonpolyposis colorectal cancer (HNPCC).  This syndrome includes individuals individuals having Familial Colorectal Cancer Type X, who display no evidence of DNA mismatch repair gene deficiency as well as those who have Lynch syndrome, which is indicated by a defect in mismatch repair genes.      Approximately 10% of all cancers are hereditary.  Thirty five percent (35%) of colorectal cancers have been stated to be the result of a familial or hereditary condition.        The American Cancer Society reports about 145,000 people per year contract colorectal cancer and studies conducted by the James Cancer Center at Ohio State University indicate one in every 35 of those persons are affected with  Lynch syndrome.        Geneticists predict approximately 800,000 individuals within the United States, alone, are affected by Lynch syndrome, however it is believed less than 5% of that number have been diagnosed.  It is thought one in every 440 to 550 persons is affected by Lynch syndrome.         Relying upon these numbers, it can be reasonably assumed each physician whose practice provides care for 3,000 to 4,000 persons, has five to ten patients affected by Lynch syndrome, and each patient has an average of three to five direct family members and most likely over a dozen second degree family members affected.       The only way to diagnose these patients is either by taking a family history, to assess risk and arrange for the genetic testing of those patients, or when those patients present with colorectal and endometrial tumors, arrange for pathological testing of those tumors for the characteristics of Lynch syndrome.   The only true form of diagnosis of Lynch syndrome is through genetic testing. During the process, DNA is sequenced seeking out defects in four primary mismatch repair genes, MLH1, MSH2, MSH6, PMS2 as well as within another gene, TACSTD1 ( Epcam) which eits to the right or to the front of the MSH2 gene.  Deletions in the EPCAM gene have been found to silence or turn off the MSH2 gene and in doing so, predisposes the individual to cancers of the Lynch syndrome.    LYNCH CANCERS LIFETIME RISKS (Source NCCN Guidelines 1.2013)         MLH1-MSH2 1,2 MSH6 2   PMS2 3 Cancer Gen Pop1   Risk Avg Age   Risk Avg Age   Risk Avg Age --------------- ------------   ----------- -----   -------------- -----   ---------- ----------- Colon 5.50%   40%-40% 44-81 yrs   10%-22% 54 yrs   15%-20% 51-66 yrs Endometrium 2.70%   25%-60% 48-62 yrs   16%-28% 55 yrs   15%                49 yrs Stomach 5% risk of LS on any mutation prediction model MMR Pro, PREMM 1,2,6 MMR Predict."   PREMM Prediction Model for MLH1, MSH2 and MSH6 - An easy qustionaire clinical prediction designed to determine the clinical probability of an individual carrying a mutation of the basic Lynch cancers. MMR Pro- This assessment device developed by Johns Hopkins researchers allows medical health professionals and families to make decisions about cancer prevention screenings and calculates the risk of an individual carrying a gene defect. It alleviates the time necessary to assess a family history and is stated to accurately identify more at risk individuals. Download page and Tool Information. Other tools for genetic risk are also available upon this page.   Reviewed 4/10/2014       RECOMMENDED SCREENING  (European Screening Guidelines To Be Added Soon)   Colonoscopy: Annually, beginning at age 20-25, or ten years younger than the earliest age of diagnosis in the family, whichever comes first for those with MLH1 and hMSH2 mutations.  For MSH6 and PMS2 patients, NCCN guidelines recommend colonoscopy testing beginning at the age of 25-30 or 2-5 years prior to the youngest age of presentation of colorection cancer in the family if diagnosed under the age of 30, and repeat every one to two years.   European Guidelines recommend every 1-2 years for persons with all affected faulty genes. NCCN does not provide management guidelines for the extracolonic cancers of those with MSH-6.  They advise prophylactic hysterectomy and oopherectomy following childbearing years. NCCN Guidelines reflects:  There are data to suggest that aspirin may decrease the risk of colon cancer in LS, however, at this time, the data are not sufficiently robust to make a recommendation for its standard use.   Endometrial and Ovarian Cancer Screening: NCCN Guidelines reflect "Prophylactic hysterectomy and bilateral oopherectomy, (BSO) is a risk reducing option that should be considered by women who have completed childbearing; Patients must be aware that dysfunctional uterine bleeding warrants evaluation; There is no clear evidence to support screening for endometrial cancer for LS.  However annual endometrial sampling is an option. Where there may be circumstances in which clinicians find screening helpful, data do not support routine ovarian screening for LS.  Transvaginal ultrasound for ovarian and endometrial cancer has not shown to be sufficiently sensitive or specific as to support a positive recommendation, but may be considered at the clinician's discretion."  Serum CA-125 is an additional ovarian cancer test with caveats similar to transvaginal ultrasound.   Extra Colonic Cancers for MLH6 and PMS2:  The risk of other LS cancers is reportedly low, however due to limited data no screening recommendation is possible at this time.   Extra Colonic Cancer Screenings for MLH1 and MSH2   Gastric and Small Bowel Cancer:  "There is no clear evidence to support screening for gastric, duodenal, and small bowel cancer for LS.  Selected individuals or families of those of Asian descent  may consider EGD with extended duodenoscopy (to distal duodenum or into the jejunum) every 3-5 years beginning at 30-35 years.   Urothelial Cancer:  Consider annual urinalysis starting at 25-30 years.   Central Nervous System Cancer:  Annual physical/neuological examination starting at 25-30 years, no additional screening recommendations have been made.   Pancreatic Cancer:  Despite data indicating an increased risk for pancreatic cancer, no effective screening techniques have been identified; therefore, no screening recommendation is possible at this time;   Breast Cancer:  There have been suggestions there is an increased risk for breast cancer in LS patients, however due to limited data, no screening recommendation is possible at this time.      Prostate Cancer: European studies have evidenced prostate cancers as an integral component of Lynch syndrome, though the experts believe there is need for more evidence.  LSI recommends annual PSA screenings and prostate exams are a prudent choice for the screening of individuals with the Lynch syndrome. European Guidelines:  "Until more studies are available, the Mallorca group does not recommend surveillance for prostate cancer in  LS families outside of appropriate research studies (see"  LSI Recommendation:  Examination and Review: Family History Review, Discussion of LS - Annually   LSI Recommendation:   Dermatological Examination for those with a family history of sebaceous or the following cancers of Muir Torre if a family history exists, or a personal history of sebaceous or other tumors as noted below: Including Muir-Torre lesions characterized including, but not all inclusive of sebaceous adenomas, sebaceous epithelioma, basal cell epithelioma with sebaceous differentiation, sebaceous carcinoma and squamous cell cancer (keratoacanthoma type.)   LSI Recommendation:  Colon Resection: For individuals with active colon cancer that cannot be removed by colonoscopy. Subtotal colectomy favored with preferences of patient actively elicited. Consider more extensive colectomy for patients with a strong family history of colon cancer or young age.    LSI Recommendation: Any Other Screening As Deemed Appropriate By the Physician:   LSI Recommendation:  Breast Cancer: Breast cancer has been identified as an integral component of LS based upon mismatch repair germline mutation factors in breast cancer tissues from family members who are not only at high risk, but, moreover, who had Lynch syndrome cancers, such as involving the colorectum. Breast cancer is exceedingly common in the population and, therein, its occurence in Lynch syndrome families could be due to chance, but importantly, a subset will likely be integrally related to a germline mismatch repair Lynch syndrome mutation is some LS families. Therefore, it would be prudent to mount a screening and management program for Lynch syndrome in those families where breast cancer is believed to be an integral lesion.   Modified 4/10/2014           DATABASES AND LABORATORIES:   GeneTests from the University of Washington provides a list of genetics clinics in the United States and internationally. The list can be accessed by clicking on “Clinic Directory” at the top of the GeneTests home page. Clinics can be chosen by state or country, by service, and/or by specialty. State maps can assist in locating a clinic in your area. (Currently Genetests is down, however is expected to return)   The National Society of Genetic Counselors offers a searchable directory of genetic counselors in the United States. Search by location, name, area of practice/specialization, and/or ZIP Code.   The National Cancer Institute provides a Cancer Genetics Services Directory, which lists professionals who provide services related to cancer genetics. You can search by type of cancer or syndrome, location, and/or provider name.   The NCBI offers a database which lists labs and information on the specific gene mutations.   InSight, an organization of the top gastro cancer researchers in the world, maintains a database on the mutations and lists some of the cancers of the specific mutations.   The Memorial University of Newfoundland has a terrific database of specific mutations and articles directly addressing those mutations.       Reviewed 6/7/2013     LYNCH SYNDROME MUTATED GENES   Lynch syndrome cancers are caused by mutations in seven mismatch repair genes, specifically:   MSH2 2p16 chromosome 45-50% MLH1 3p22.3/A> chromosome 20% MSH6 2p16 chromosome 10% PMS2 7P22.1 chromosome 1%   EPCAM PMS1 2Q32.2 chromosome Rare MSH3 5q14.1 chromosome Rare EXO1 1q1q43 chromosome Rare   Other Genes Not Yet Discovered 20-25% prev           IT'S JUST THE TIP OF THE ICEBERG   Approximately ten percent (10%) of all cancers are hereditary. It is estimated many more are familial and 35% of all colorectal cancer is hereditary and/or familial. These patients need to be identified and receive more extensive cancer screenings. FIT testing (testing for blood in the stool) is not effective for them. We have most likely only touched the tip of the iceberg in respect to hereditary and familial cancers. The field of genetics is pioneering and modern medical technology changes daily. What we do know, today, is with early detection and a good screening management program, coupled with prophylactic treatment, many affected by genetic defects, resulting in a high predisposition to cancer, can be saved as a number of the cancers are preventable and treatable before becoming life threatening.   Li Fraumeini Syndrome - Breast cancer before the age of 50, soft tissue sarcoma, osteosarcoma, brain tumors, lung cancer, adrenal gland cancer, leukemia and other cancers. Genetic defect in the TP-53 gene Hereditary Breast and Ovarian Cancer Syndrome - HBOC High lifetime risk of breast cancer and of ovarian cancers. Prostate cancer in men. Cowden Syndrome - Also known as PTEN, Creates a 10% risk to thyroid and a higher than average risk to breast and uterine cancers. It hasn't been extensively studied... Familial Adenomatous Polyposis (FAP) or Gardner's Syndrome is a colon cancer predisposition syndrome in which hundreds to thousands of precancerous colon polyps (called adenomas) develop throughout the gastrointestinal tract (mostly in the colon and rectum but also in the stomach and small intestine). Attenuated FAP (AFAP) is a milder form of FAP and is associated with increased risk for colon cancer but fewer number of colon polyps. Gardner's Syndrome is associated with the typical number of polyps as in FAP, but also osteomas (benign tumors of the bone) and soft tissue tumors (called desmoids). A second variant, called Turcot Syndrome, is associated with certain brain tumors (different than in HNPCC-Lynch Syndrome). All forms of FAP are associated with mutations in the APC gene. Von Hippel-Lindau Von Hippel-Lindau Disease (VHL) is a multisystem disorder characterized by abnormal growth of blood vessels (called hemangioblastomas or angiomas). Hemagioblastomas may develop in the retina, certain areas of the brain, the spinal cord and other parts of the nervous system. Other types of tumors can develop in the adrenal gland, kidney and pancreas. Individuals with VHL also have a higher risk to develop certain types of cancer, especially kidney cancer. Nearly all individuals with VHL are found to have mutations in the VHL gene. Multiple Endocrine Neoplasias Multiple endocrine neoplasia (MEN) syndromes received their name because they predispose people to develop tumors of the endocrine glands. The endocrine system is comprised of glands that secrete hormones into the bloodstream that control numerous processes within the body. The endocrine system is instrumental in regulating mood, growth and development and metabolism, as well as sexual function and reproductive processes. The major glands of the endocrine system affected by the MEN syndromes are the pituitary, thyroid, parathyroids, adrenals and pancreas. Currently, there are two distinct MEN syndromes: MEN1 and MEN2. In some ways, the two syndromes are similar, but there are important differences. Reviewed: 4/10/2014                                                                        
Tuesday, 09 February 2010 | 43100 hits

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