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Lynch syndrome: Many hospitals now screen all colon cancers for genetic markers

March 22 is Lynch Syndrome Awareness Day in Michigan

According to the Michigan Department of Health approximately 5,000 new cases of colon cancer are diagnosed in our state each year (data from 1985-2009). It is estimated that three out of every 100 (3%) colon cancers diagnosed are associated with Lynch syndrome, and that only a minority of these patients are aware of Lynch syndrome.

Shanna Gustafson, MS, MPH, is a Cancer Genetics Counselor at the U-M Comprehensive Cancer Center

Shanna Gustafson, MS, MPH, is a Cancer Genetics Counselor at the U-M Comprehensive Cancer Center

Lynch syndrome is an inherited condition associated with an increase in risk for colon cancer. Uterine (endometrial) cancer, ovarian cancer, upper GI (stomach and small bowel) cancers, biliary tract, urinary tract (kidney, etc.) cancers, and sebaceous skin tumors can also be seen in families with Lynch syndrome. Identifying families with Lynch syndrome allows for increased screening and prevention.

Lynch syndrome is caused by inherited mutations in any one of these 5 genes, MLH1, MSH2, MSH6, PMS2 and TACSDT1/EPCAM. Several studies have exhibited that screening all colon cancers using specialized testing called microsatellite instability analysis (MSI) and immunohistochemistry (IHC) analysis for the MLH1, MSH2, MSH6 and PMS2 proteins is effective in identifying families which may benefit from further evaluation and genetic testing for Lynch syndrome. This is called universal screening and many hospitals have adopted policies which perform these screening tests on all new colon cancers removed surgically at their centers.

Once again, the State of Michigan is leading the charge to increase awareness of Lynch syndrome. Two members of the Michigan Department of Community Health are the founding members of the Lynch Syndrome Screening Network, a consortium aiming to assist institutions that are developing their Lynch syndrome screening policies and further research. The University of Michigan is already developing its protocol for universal screening of all new colon cancers removed here and are collaborating with the LSSN organization to gather more data regarding the use and benefits of this screening.

Additionally, again for 2013, Governor Snyder has designated March 22 “Lynch Syndrome Awareness Day.”  Many families affected by Lynch Syndrome remain unaware of their risk. Clues in the family that could be related to Lynch Syndrome include:

  • More than one relative with colon or uterine cancer
  • Colon or uterine cancer diagnosed before age 50
  • More than one Lynch Syndrome cancer in one person (2 colon cancers, colon and uterine cancer in the same person)

If you think that your family may have Lynch syndrome, The University of Michigan Cancer Genetics Clinic can help to determine the likelihood of this with full evaluation and risk assessment.

More reading on Lynch syndrome

U-M research roundup 2010

U-M study: wide testing for Lynch syndrome is cost-effective

Thrive: how genetic testing helped one patient dodge cancer

American Cancer Society: Heredity and Cancer

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