Lynch Syndrome International

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

This email address is being protected from spambots. You need JavaScript enabled to view it.

http://medicine.creighton.edu/HCC

 

 

 

 

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.

 

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

 

We are participants of the Amazon Smile program, where LSI receives a percentage of sales to those who participate in purchasing their products.  For those who shop online at www.smile.amazon.com, be sure and purchase through the Amazon Smile program and designate the contribution to go to Lynch Syndrome International.

 

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  702-298-3910 

 

If you have any questions about donating, please don't hesitate to contact us at the phone number listed above or throughThis email address is being protected from spambots. You need JavaScript enabled to view it..

 

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!

 

 

 

 

Myriad Genetics, Inc.

 

 

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  • Basic Foods, Inc.
  • Basic American, Inc.
  • Champion Exposition Services (Exhibition Space)
  • Kraft Foods Foundation
  • Minerva Medical Communications
  • Oxford Communications
  • Estes Refrigeration
  • Merit Dining Group, Santa Monica, CA.
  • Kaiser Permanente - Northern California
  • Cumuli, Inc., www.thriftyfun.com Manchester, Washington
  • Delve, LLC
  • Vanguard Charitable Endowment Program, Boston, MA.
  • 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
  • Tahoe Joe's Restaurants, Vacaville, California
  • University of California, Davis Medical School
  • California State Department of Public Health
  • International Congress of Human Genetics
  • Colon Cancer Challenge Foundation
  • Soroptomist International, Richmond, California
  • Amgen, Inc.
  • WG Health Systems
  • Canvas and Cocktails, Inc., Denver, Colorado
  • Bob's Discount Furniture, Manchester, CT
  • Eugene R. Frost Insurance, Hamden, CT
  • Jeffrey Zuzolo, Northwestern Mutual Life Insurance, West Hartford, CT
  • Jeffrey S. Goldblatt, MD, LLC, Old Saybrook, CT
  • Dussick Management Associates, Madison, CT.
  • Jake Wyman Photographer, LLC, Guilford, CT
  • Ross Shepherd Construction, Guilford, CT
  • Northeast Construction Associates, Inc., Milford, CT
  • Hanover Insurance Companies
  • Lauren Latorre-Osterling, State Farm Insurance Agent, Madison, CT
  • Incarnation Center, Inc. Ivoryton, CT
  • Sheer Madness, Madison, CT
  • Salon H, Madison, CT
  • R.J. Julia's Booksellers, Madison, CT
  • Fromage Fine Foods, Old Saybrook, CT
  • Agway of North Branford, CT.
  • Squeaky Clean Carwash, North Branford, CT
  • Animal Medical Clinic, Manchester, CT
  • Jake Wyman Studios, Guilford, CT
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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                                                                    In Memory of Belinda Tam-Kimura
  • Dr. Henry Lynch - Creighton University                                                         Andrea Shilling
  • Dr. Uri Ladabaum, Stanford University                                                          Susan and John Yurchak
  • Anya Prince - Cancer Legal Resource Center                                              Myra W. Martin                                                
  • Scott Weissman, MS, Northshore University Health System                          Jack and Rebecca Parks
  • Dr. Patrick Lynch, MD Anderson                                                                   Jacqueline LoPresti
  • Dr. Stephen Lanspa, Creighton University Omaha, Nebraska                       Mr. and Mrs. George Hume                  
  • Dr. Uri Ladabaum, Stanford University                                                         Stephen and Christine Young Wright
  • Dr. Hans Vasen, Leiden, Holland                                                                  Marion T. Masuda
  • Dr. Jane Green                                                                                             Barbara Puglia
  • Dr. Dawna Gilchrist                                                                                       Amanda Neel
  • Sir John Burn, Great Britain                                                                          Sheryl Hembrador
  • Dr. William Grady, Fred Hutchinson Cancer Center                                     Loren Kimura                            
  • Dr. John Potter, Fred Hutchinson Cancer Center                                         Pete Suerken
  • Dr. Rick Boland, Baylor University                                                                Susan Kamensky
  • Deb Duquette, Michigan Department of Public Health                                  Sandra Ruliffson
  • Peggy Cooper, University of California, San Francisco                                Cynthia Parker
  • Robin Bennett, University of Washington                                                      Christine Benoit 
  • Cristi Radford, Director LSI                                                                           Linda Madden in honor of the Kimura Family
  • Margo Thelan                                                                                               Ryan and Jaison Kimura
  • Deb Duquette                                                                                               Grace Morris
  • Andy Pignataro Agency                                                                                Lawrence Oberkfell
  • A Little Insight, Vacaville                                                                               Robert Hoffman in honor of Ryan Kimura and Family
  • Northshore Healthcare                                                                                 Anthony Villani in honor of the Kimura Family
  • Sloan-Kettering                                                                                            Margo Feinstein
  • MD Anderson                                                                                               Michael Gendreau
  • Mayo Clinic                                                                                                   Basic Foods, Inc.
  • Ami Blanco, UCSF                                                                                        Basic American, Inc.
  • Dr. Noralene Lindor, Mayo Clinic                                                                  Liz Hume and Ray Jacobs
  • Constance Murphy, Jupiter Florida Med Ctr.                                               John Lehmann in honor of Grace Morris
  • Jackson Medical Supply, Vacaville, CA                                                        Fred and Rhoda Seiji   
  • Delva LLC                                                                                                   Loren Kimura dedicated to Bob Taira  
  • San Francisco Giants Players                                                                     Sandra Leung
  • Toyota of Vacaville, CA                                                                           
  • Western Digital Corp.
  • Meyers Corp.
  • Resenser Hotels
  • Napa Valley Wine Train, Napa, CA
  • Pier 39, San Francisco, California
  • De Young Museums, San Francisco, CA
  • 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, Networking Director, LSI
  • Blue Ridge Services, Abingdon, VA.
  • Judith Ruggiero, Past Director, LSI
  • Susan Olson, Past Director LSI
  • John Nelson, Director, LSI
  • Dr. William B. Harb, Nashville, TN  Director, LSI
  • Michelle Miller, Director LSI
  • Dr. Elizabeth Herrman, Past Director LSI
  • Myriad Genetics
  • D.L. Ryan Companies, Ltd.
  • Cabana Pools, Houston, Texas
  • Edward Jones Company
  • Vincent McElhone
  • John "Cadillac" Saville
  • Tommy Koenig
  • The Rhoades Family
  • The James Snelling Family for Jason Snelling, Past Director, LSI
  • The Samson Family
  • The Stephen and Linda Bruzzone Family for Hap Snelling, Marcella Snelling Director LSI
  • The Beth Fairfanks Family, Director LSI
  • The John and Cheryl Stark Family
  • The Fabiani Family, Director LSI
  • The Hamilton Family
  • The Michael O'Hara Family
  • Eileen Grubba
  • The Joseph Roberson Family
  • Maureen Clark Family
  • The Mandy Matthews Family, Past Director, LSI
  • 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, Past Director, LSI
  • 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, Past Director, LSI
  • The Hufford Family
  • J. Bennett Family
  • Barry Bresler Family
  • David Wortman Family, Director, LSI
  • 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
  • Dr. David Kalady, Cleveland Clinic
  • Megan Tucker, CGC
  • Dr. Joseph Murray Casey, Creighton University
  • Susan Donlon, MS, CGC, Tripler Medical Center
  • Dr. Douglas Reigert-Johnson, Mayo Clinic
  • Anya Prince, Chapel Hill University
  • Dr. Patrick Lynch, MD Anderson Cancer Center
  • Dr. Susan Peterson, MD Anderson Cancer Center
  • Carrie Snyder, RN, MS, CGC, Creighton University, Director, LSI
  • David Wakefield
  • Tami Nelson Richardson, Creighton University
  • Dr. Gabriela Moselien, Germany
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  •                              Team Courage, Sisterhood of the Traveling Genes
  •  
  • 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                                           Tony Northrop in honor of Stephanie Toole and Family
  • Peter Kwiatkowski in honor of Stephanie Toole                    Duane Kunze in honor of Stephanie Toole
  • Elaine Breiner in honor of Stephanie Toole
  • Glenn Brown in honor of the Wetzel Family
  • Kathleen Markling in honor of the Wetzel Family
  • Laura Grahovac in honor of Walk for Courage
  • John and Susan Yurchak
  • Andrea Shilling   
  • 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,  Director, LSI
  • 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
  • Michael and Annette Buckley
  • Jacklynn M. Pickett
  • David and Margaret Lyons
  • Charles and Margaret Walden
  • Sarah Jansen
  • Arthur Tirrell
  • Laura and Charles Barber
  • Donna Farrell
  • Laurie E. Ruderfer
  • Peter and Jocelyn G. Yoo
  • Paul and Maribel Best
  • Christine Main
  • Annamaria Trusky
  • Patricia and Stephen Robinson
  • Patricia Saville
  • Patrick and Merrille Shannon
  • Steve Sullivan
  • Jonathan and Denis Tompkins
  • James and Deborah Crocker
  • Benedict and Eleanor LaTorre
  • Donna Farrell
  • Margaret Lyons
  • Vincent and Susan McElhone
  • Adam and Lauren Conrad
  • Sally Foti
  • Anita Ramm
  • Dennis and Wendy Cole
  • Joseph and Lois Mauro
  • Jill and Paul Sweet
  • John and Joanne McDevitt
  • Dana and David Hilmer
  • Bradford Pompilli
  • Laureen Olivia Pompilli
  • Rosemarie Johnson
  • Evelyne M. Rowe
  • Melissa Babock
  • Aaron and Vanessa Vradenburgh
  • Adam and Lauren Conrad
  • Francis R. Lynch
  • Adam Morgan
  • Mark and Donna Krystal
  • Robert R. Stimpson
  • Mellissa Lyons
  • Garden Meadow Inc.
  • Sari Sherman
  • Jay and Megan Seigel
  • J.R. Martin
  • Mrs. Ridge Eagan
  • Timothy Breda
  • Rebecca and Alan Montgomery
  • Martin and Alice Bauman
  • Gloria J. Gelardi
  • Robert and Lynette Schwarz in memory of Sandy Findlayson
  • Erica Perry in honor of Tony Finlayson and Memory of Sandy Finlayson
  • Deana Martin in honor of John Finlayson and Memory of Sandy Finlayson
  • Linda Mahard in honor of Erica Perry and Memory of Sandy Railsback Finlayson
  • Jennie Bailey in honor of Erica Perry and Memory of Sandy Railsback Finlayson
  • Joan Bettencourt in honor of Erica Perry and Memory of Sandy Railsback Finlayson
  • Michelle George in honor of Jill Chang
  • Michele Oesch in honor of Jill Chang and in Memory of Karen Oesch
  • Kelsie Brown in honor of Jill Chang 
  • Carolyn Dumond in honor of Jill Chang and Team Courage in Memory of Barn Horn
  • Cheryl Ruszkowski in honor of Jill Chang and in Memory of Karen Oesch
  • Ginger Withers in honor of Melanie Sprouse and in Memory of Karen Oesch
  • Carol Howard in honor of Melanie Sprouse and in Memory of Karen Oesch
  • James Dahlin in honor of Shelley Oesch and in Memory of Karen Oesch
  • Jill Chang in Memory of Karen Oesch, Director, LSI
  • John Nelson Family, Director, LSI
  • Susan Rosen in honor of Cathy Nobil Dutton
  • Cheryl Stark in honor of Linda and Steve Bruzzone
  • Julie Libman
  • Anonymous in honor of Shelley and Ben Holmes and in Memory of Mimi Eisman
  • Susan and Michael McDevitt
  • Monica Hemming in honor of Beth Caspers Fairbank
  • Jean Deutschle in honor of Linda S. Mather
  • Mollie Mather in honor of Linda Mather and Memory of Betty Simpson
  • Daniel Dicesare in honor of Linda Mather
  • Anonymous in Honor of Janice Rettig
  • Rae Therrien
  • Wolfram Nolte, Director, LSI
  • Mary Bolton in honor of Chris Bolton
  • Jennifer Cords in honor of Dianna Olnhausen
  • James Powers in honor of Mary Gannon
  • Scott Eaton in honor of Michelle George and in Memory of Rachel George Greenwalt
  • Angela Teles in honor of Shawn Towne and in Memory of Paula Rubin
  • John Holland in honor of David Wortman in Memory of Cindy Betts
  • Nancy Vogel in honor of Patty Wiesenhan in Memory of Cindy Betts
  • Susan Martina in honor of Patty Wiesenhan in Memory of Cindy Betts
  • David Wortman in Memory of Kathy Limer and Cynthia Betts
  • Shellie Hirsch Donating to Help Find A Cure
  • Margaret Spinelli In Memory of Amy
  • Barbara Fabiani in Honor of Elizabeth Massi and Nicholas Hanson on their Wedding
  • Kerri Murphy In Memory of Francis Murphy
  • Michaelle Madrid In Memory of T. Chiozza and M. Chiozza
  • Susan Jacobs
  • Cindy Christou With Gratitude For LSI's Work
  • Charlotte Oring
  • Sharon Costa
  • Kevin Neil In Memory of Joan Neal
  • Sandra Wayland
  • Susan Loughlin
  • Sid Chapnick
  • Jill Chang in Memory of My Dear Mother, Karen Oesch
  • Francoise Marga
  • Julie Dimick-Corbeau
  • Stephanie Wideman
  • Todd Neil
  • Connie Lee
  • Vlad Vassilchenko
  • Terri Woomer Yamagata
  • Alice Raphael Karikachery
  • Shivasankalp Shivaprakash
  • David Payne
  • Nishant Jain
  • Monica Landry
  • Marcelo Fernandes in honor of Rico Fernandes
  • Ralph Wyndrum
  • Anonymous In Memory of Glenn Carr and Susanne Bugden
  • Anonymous In Memory of Louis Topacio, A Great Fighter
  • Katherine Kellenberger
  • Dan and Betty Shackleford in Memory of Eugene North, Jr.
  • Lea Ann Catlett in Memory of Phyllis Kohler Kaszmer and Lois Kohler Mott
  • Andrea Schnick in Honor of Michelle Kerska Miller
  • Michael Wortman
  • Anonymous Dedicated to Deborah Lieb
  • In Memory of Eugene North, Jr.
  •      Dan and Betty Shackleford 
  •      Karen and Chris Jones
  •      Lisa L. Jones
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  • Updated 8/14/2014
  •  

  •  
  •  
  • Step Out In Style
  •  
  • ...with this stunning Lynch syndrome awareness bracelet, and help
  • Lynch Syndrome International save lives and protect families, as well!  

 

alt

 

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 Cance

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 writing a check to:

 

Lynch Syndrome International

3650 South Pointe Circle  Suite 245-9

Laughlin, Nevada 89209 

 

or pay by 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 needed.  

 

Orders must be received by December 15th for a Christmas delivery!

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  •  
  •  
 

 

GENETIC TESTING

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

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

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

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

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

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

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

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

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

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


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

 

 

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

 

 

 

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

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

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

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

 

 

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

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

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

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


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

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


 

THE SURGICAL PROCESS

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

Read more: The Risk For Women
 

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