Also known as
COCA1, FCC1, HNPCC, HNPCC1, LCFS2, LYNCH1, MMRCS2, MSH-2, hMSH2
The MSH2 gene provides instructions for making a protein called mutS homolog 2. This protein is involved in the repair of mistakes that occur when DNA is copied during cell division. It is a member of a class of proteins called DNA mismatch repair proteins, which work together to recognize and correct errors in DNA sequence that could lead to genetic changes. The MSH2 protein plays a particularly important role in detecting and repairing mistakes involving base pairs that are adjacent to each other, known as short loops or "hairpins."
Mutations in the MSH2 gene can cause a type of inherited cancer called hereditary nonpolyposis colon cancer (HNPCC), also known as Lynch syndrome. HNPCC is characterized by a high risk of developing colon cancer and other types of cancer, such as uterine, ovarian, and stomach cancer. Individuals with HNPCC often have a family history of these cancers and may develop them at a younger age than is typical. Treatment for HNPCC often includes regular cancer screenings, such as colonoscopies, and may include surgery, chemotherapy, and other types of medical therapy.
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