Michigan Gov. Rick Snyder has designated March 22 Lynch Syndrome Awareness Day.
Her aunt died of colon cancer at age 72. Her cousin died of colon cancer at age 49. When her mother was diagnosed with colon cancer at age 70, three years after being treated for uterine cancer, Paula realized it was time to act. She had her first colonoscopy at age 41. While the colonoscopy was normal, her doctor recognized that the pattern of cancer in the family was concerning and suggested genetic counseling. Genetic testing in Paula’s mother found a mutation in a gene called MSH6, confirming that their family has Lynch syndrome.
Lynch syndrome is an inherited condition caused by mutations in any one of 5 genes: MLH1, MSH2, MSH6, PMS2 and EPCAM/TACSTD1. For people who have a mutation in one of these genes, the risk for certain cancers is increased. Colorectal cancer is the main feature of Lynch syndrome. Other cancers that can be found in families with Lynch syndrome include:
- uterine or endometrial
- stomach or small intestine
- biliary tract
- sebaceous skin tumors
- urinary tract, such as kidney
Identifying families with Lynch syndrome allows us to intervene with screening and preventive options. Colonoscopies every year beginning at age 20 can dramatically reduce the risk of colon cancer in people with Lynch syndrome. Continue reading