PMS2 gene-Lynch syndrome
Men and women with a mutation in PMS2 have an approximate 15-20% lifetime risk for colorectal cancer and 6% lifetime risk for other Lynch syndrome associated cancers. Women have an additional 15% lifetime risk for endometrial cancer. Lynch syndrome-associated cancers include cancer of the urinary tract, ovary, stomach, small intestine, hepatobiliary tract, skin, and brain. Several hundred mutations in the PMS2 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 PMS2 protein that cannot perform its normal function. When the PMS2 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 PMS2 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