Familial adenomatous polyposis (FAP) is a disease with autosomal-dominant inheritance that predisposes to carcinoma of the colorectum, stomach, duodenum, and thyroid. There is increasing evidence that germline variants in APC (E1317Q) predispose to the development of multiple colorectal adenomas and carcinoma.
Frayling et al The APC variants I1307K and E1317Q are associated with colorectal tumors, but not always with a family history. Proc. Natl. Acad. Sci. USA Vol. 95, pp. 10722–10727.
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