Colorectal cancerEndometrial cancerOvarian cancerStomach cancerSmall intestine cancerLiver cancerGallbladder duct cancerUpper urinary tract cancerBrain cancer
Research also shows that Lynch syndrome increases a woman’s risk of having breast cancer. About 1 in 440 people in the United States carries a gene mutation that causes Lynch syndrome. In addition to MSH2, researchers have identified four other gene alterations that are linked to the disorder. (1) About 40 percent of Lynch syndrome cases related to a gene mutation are associated with defects in the MSH2 gene. Certain mutations in the MSH2 gene can cause another form of Lynch syndrome, known as Muir-Torre syndrome. People with this condition have an increased risk of developing colorectal cancer and rare tumors on the skin. (2) The MSH2 protein combines with one of two other proteins — either MSH6 or MSH3 — to form a protein complex. This complex finds locations on DNA where errors occurred during replication. Then another group of proteins — the MLH1-PMS2 complex — fixes the errors. MSH2 is part of a set of genes known as the mismatch repair (MMR) genes. (2) You might consider testing if your relatives have gene mutations, you develop an MSH2-related cancer at a young age, you have a family history of MSH2-related cancers, or you have other risk factors. You’ll be asked to provide a blood or saliva sample that’s analyzed in the lab. It’s a good idea to talk to a genetic counselor if you’re considering testing. This expert can explain the benefits and drawbacks of testing, while helping you interpret your results. Men and women with an MSH2 mutation have between a 52 and 82 percent chance of developing colon or rectal cancer in their lifetime. Women with the defect have between a 25 and 60 percent lifetime risk for endometrial cancer and between a 4 and 13 percent lifetime risk for ovarian cancer. (3) If you have an MSH2 alteration, there’s a fifty-fifty chance that you’ll pass it on to each of your children. (4) Scientists discovered that mutations in the MSH2 gene were associated with Lynch syndrome in 1993. (5) The Facing Our Risk of Cancer Empowered (FORCE) organization gives guidelines for people with Lynch syndrome, which include the following:
For Women
Women should consider:
Risk-reducing surgery to remove the ovaries and uterus after childbearing is completeBreast cancer screening based on family historyAnnual pelvic examination, pelvic ultrasound, and endometrial biopsy for women from age 30 to 35
It’s also important that women report abnormal gynecological symptoms, such as unusual vaginal bleeding, abdominal pain, or bloating, to their doctor.
For Men and Women
Men and women should consider:
A colonoscopy every one to two years starting at age 20 to 25 (or two to five years before the earliest colon cancer diagnosis in the family)Aspirin to lower the risk of colon cancerGenetic screening for other cancers based on family history, as directed by a doctorAn annual urinalysis starting at age 30 to 35 if you have a family history of urothelial cancer or an MSH2 mutationAn annual physical, total body skin exam, and neurological exam starting at age 25 to 30
Talk to your doctor about an individualized screening approach. (6)
