Lynch syndrome (LS) is the most common cause of hereditary colon and uterine cancer. It is caused by genetic mutations in the MLH1, MSH2, MSH6, PMS2, and EPCAM genes. Compared to the general population, patients with a pathogenic mutation in one of these genes have a greatly increased risk of developing cancer. The cancer risks vary depending on the specific gene that is mutated. By age 70, there is a 15-82% risk of colorectal cancer, a 15-60% risk of endometrial cancer, and up to a 24% risk of ovarian cancer. Individuals with LS are also at an increased risk for developing gastric, hepatobiliary, urinary tract, small bowel, brain, skin, and pancreatic cancers.
Published management guidelines for individuals with Lynch syndrome provide recommendations for changing a patient’s medical management in order to decrease the risk of associated cancers. The available options can be individualized and may include increased surveillance, surgery, and/or chemoprevention.