Lynch syndrome

Lynch syndrome is an inherited cancer-predisposition syndrome caused by pathogenic variants in DNA mismatch-repair genes. It raises the risk of colorectal and several other cancers, often at younger ages.

DNA mismatch repair: A cellular pathway that corrects errors introduced during DNA replication. Pathogenic variants in this pathway’s genes disable a key safeguard in Lynch syndrome.
Colorectal cancer: Cancer arising in the colon or rectum. It is a major cancer risk in Lynch syndrome and the focus of regular surveillance.
Autosomal dominant inheritance: A pattern in which one altered copy of a gene can cause a trait or predisposition. A pathogenic variant in one mismatch-repair gene copy can confer Lynch-associated cancer risk.
Familial adenomatous polyposis: An inherited syndrome, usually caused by APC variants, that produces numerous colorectal adenomas. It also raises colorectal cancer risk but typically causes a distinctive polyposis burden unlike Lynch syndrome.
MLH1: A gene encoding a protein that helps coordinate DNA mismatch repair. Inherited pathogenic variants in MLH1 are a common cause of Lynch syndrome.
Endometrial cancer: Cancer arising in the lining of the uterus. It is a prominent Lynch-associated cancer, especially among women.
Germline mutation: A genetic alteration present in reproductive cells and therefore potentially inherited by offspring. Lynch syndrome begins with an inherited germline pathogenic variant.
MUTYH-associated polyposis: An inherited colorectal polyposis syndrome caused by pathogenic variants in both copies of MUTYH. Its recessive inheritance and adenoma pattern differ from Lynch syndrome.
MSH2: A gene encoding a protein that recognizes mismatched DNA and replication-loop errors. MSH2 variants can initiate the mismatch-repair failure underlying the syndrome.
Colonoscopy: An examination of the colon and rectum using a flexible camera. Regular colonoscopy can detect precancerous growths early in people with Lynch syndrome.

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