open access: Lynch Syndrome - GeneReviews™ - NCBI Bookshelf

Lynch Syndrome - GeneReviews™ - NCBI Bookshelf

Summary

Disease characteristics. Lynch syndrome, caused by a germline mutation in a mismatch repair gene and associated with tumors exhibiting microsatellite instability (MSI), is characterized by an increased risk of colon cancer and cancers of the endometrium, ovary, stomach, small intestine, hepatobiliary tract, urinary tract, brain, and skin. In individuals with Lynch syndrome the following life time risks for cancer are seen: 52%-82% for colorectal cancer (mean age at diagnosis 44-61 years); 25%-60% for endometrial cancer in women (mean age at diagnosis 48-62 years); 6% to 13% for gastric cancer (mean age at diagnosis 56 years); and 4%-12% for ovarian cancer (mean age at diagnosis 42.5 years; approximately 30% are diagnosed before age 40 years). The risk for other Lynch syndrome-related cancers is lower, though substantially increased over general population rates.