MSH6 gene- Lynch syndrome
Men with a mutation in MSH6 have an approximate 44% lifetime risk for colorectal cancer and 6% lifetime risk for other Lynch syndrome associated cancers. Women have an approximate 20% lifetime risk for colorectal cancer, 44% lifetime risk for endometrial cancer, and 22% lifetime risk for other Lynch syndrome associated cancers. Lynch syndrome-associated cancers include cancer of the urinary tract, ovary, stomach, small intestine, hepatobiliary tract, skin, and brain. Several hundred mutations in the MSH6 gene that predispose people to colorectal, endometrial and other Lynch syndrome-associated cancers have been found. These mutations may cause the production of an abnormally short or inactivated MSH6 protein that cannot perform its normal function. When the MSH6 protein is absent or ineffective, the number of mistakes that are left unrepaired during cell division increases substantially. If the cells continue to divide, errors accumulate in DNA; the cells become unable to function properly and may form a tumor in the colon, endometrium or another part of the body.
Mutations in MSH6 are inherited in an autosomal dominant manner, meaning each first degree relative (parent, child, and sibling) of an individual with this condition has a 50% chance of inheriting the disease causing mutation.
To learn more about Lynch syndrome please visit our Lynch Syndrome group http://kintalk.org/group/lynch-syndrome-2