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.
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. Continue reading