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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.

QUICK FACTS ABOUT LYNCH SYNDROME

• Approximately 10% of all cancers are hereditary.
• Approximately 145,000 people per year get colon cancer and one in every 35 persons with colon cancer have Lynch syndrome.
• Approximately 600,000 to 1,000,000 individuals within the United States are projected to have Lynch syndrome, however less than 10% of that number have been diagnosed.
• The first step toward diagnosis is the taking of a comprehensive family medical history.
• The only true form of diagnosis of Lynch syndrome is through genetic testing.
• Genetic testing saves lives.

LYNCH CANCERS LIFETIME RISKS

• 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, gall bladder duct, prostate and sebaceous adenomas (Muir Torre)

Identification, Diagnosis and Management - Excellent Immediate Resource Guide for Physicians:  Lynch Syndrome by Wendy Kohlman, MS and Stephen B. Gruber, MD, PhD, revised 9/20/2012

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 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.

A detailed cost-effectiveness analysis* of screening for LS was completed after the EGAPP™ recommendation was published.  The four testing approaches evaluated were found to be cost effective in the following order, from most to least cost effective:

• Preliminary screening of tumor tissue using IHC, plus BRAF
• Preliminary screening of tumor tissue using IHC only
• Preliminary screening of tumor tissue using MSI
• Genetic sequencing (DNA analysis) for all 4 MMR genes

*The Cost-Effectiveness of Genetic Testing Strategies for Lynch Syndrome Among Newly Diagnosed Patients with Colorectal Cancer, published online on January 15, 2010 in Genetics in Medicine. Authors: Mvundura M, Grosse SD, Hampel H, Palomaki GE.

Widespread Genetic Testing Appears Cost Effective published online on 1/4/2011 in Cancer Prev Res (Phila) Authors: Dinh, TA, Rosner, BL, Atwood, JC, Boland, CR, Syngal S, Vasan, HF, Gruber, SB, Burt, RW

Expert Discussion of top expert panel of the Cost Effectiveness of Genetic Testing for Lynch syndrome.  The study provides a medically and cost effective method to readily identify and determine precisely who benefits from genetic testing for Lynch syndrome.  A "must listen" panel discussion for all medical professionals.

New NCCN guidelines recommend "MMR protein testing should strongly be considered for ALL colon cancer patients <50 years of age based upon an increased likelihood of Lynch syndrome in this population.  Some centers, however, now perform IHC (and sometimes MSI) testing on all colorectal tumors to determine which patients should have genetic testing for Lynch syndrome.  The cost effectiveness of this so-called " reflex testing" approach has been confirmed for colorectal cancer and this approch was endorsed by the Evaluation of Genomic Applications in Prevention and Practice. (EGAPP) working group at the Centers For Disease Control (CDC)."

Modified 01/13/2013