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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.
• Approximately one in every 440 to 550 persons is affected by Lynch syndrome.
• 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 (Source NCCN Guidelines 1.2013)

Genl Pop MLH1-MLH2 Mean Onset MSH6 Mean Onset PMS2 Mean Onset

                                    Avg      MLH-1         Mean         MSH6         Mean          PMS2           Mean

                                    Risk     MSH-2          Age           Risk             Age           Risk             Age

                                                 Risk

Colorectal Cancer       5.5%  40%-80%    44-61 Yrs  10%-22%     54 Yrs        15%-20%     61-66 Yrs

Endometrium              2.7%  25%-60%    48-62 Yrs   16%-26%    55 Yrs         15%                 49 Yrs  

Stomach                     <1%   01%-13%          56 Yrs           <3%    63 Yrs          ---               70-78 Yrs

Ovary                           1.6%  4%-24%        42.5 Yrs     1%-11%  46 Yrs           ---                    42 Yrs

Hepatobiliary Tract      <1%  1.4%-4%    50-57 Yrs     Not Rep    Not Rep         ---                  Not Rep

Urinary Tract                <1%  1% - 4%     54-60 Yrs     <1%          65 Yrs           ---                  Not Rep

Small Bowel                 <1%  3% - 6%     47-49 Yrs     Not Rep     54 Yrs           ---                   59 Yrs.

Brain/CNS                    <1%  1% - 3%          50 Yrs     Not Rep     Not Rep         ---                   45 Yrs

Sebacious Neoplasms  <1%  1% - 9%     Not Rep      Not Rep     Not Rep        Not Rep          Not Rep

Pancreas                      <1%  1% - 6%      Not Rep      Not Rep     Not Rep        Not Rep          Not Rep

--- Combined Risk for Renal Pelvic, Stomach, Ovary, Small Bowel, Ureter and Brain is 6% to age 70 Source:

Senter, L. et al. (Gastroenterology 2008 135:419-428)

The Basics of Identification, Diagnosis and Management of Lynch Syndrome

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

Is Breast Cancer A Part of the Lynch Syndrome?

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.

What Are Cost Effective Methods for Tumor Testing?

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
•  

What Is The Cost Effectiveness Of Genetic Testing?

*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 <70 years of age based upon an increased likelihood of Lynch syndrome in this population. (NCCN Guidelines for IHC-MSI testing) 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 6/16/2013