Familial adenomatous polyposis

Familial adenomatous polyposis is an inherited cancer syndrome, usually caused by a pathogenic APC variant, that produces numerous colorectal adenomas and a high risk of colorectal cancer.

Wnt signaling pathway: A cell-signaling system that regulates development, tissue renewal, and cell fate. Loss of APC disrupts this pathway and promotes growth of intestinal cells.
Autosomal dominant inheritance: An inheritance pattern in which one altered gene copy can cause a trait or disorder. A person with a germline APC variant has a one-in-two chance of passing it to each child.
Colectomy: Surgical removal of all or part of the colon. Preventive colectomy reduces colorectal cancer risk when polyp burden becomes difficult to manage.
Lynch syndrome: An inherited cancer syndrome caused by mismatch-repair gene variants, with increased risks of colorectal and other cancers. Unlike this syndrome, Lynch syndrome usually causes few colorectal polyps before cancer develops.
Aldred Scott Warthin: An American pathologist whose family cancer studies helped establish hereditary patterns in colorectal cancer. His early work on hereditary colorectal cancer helped frame later study of familial polyposis.
Adenoma: A benign tumor arising from glandular epithelium that can sometimes become malignant. The many colorectal growths in this syndrome are adenomas.
Colorectal adenoma: A benign gland-forming growth in the colon or rectum that may develop into cancer. Colorectal adenomas are the defining polyps of this syndrome.
Ileal pouch–anal anastomosis: An operation that creates a reservoir from the ileum and connects it to the anus after colon removal. This reconstruction is one option after prophylactic proctocolectomy.
MUTYH-associated polyposis: An inherited adenomatous polyposis syndrome caused by pathogenic variants in both copies of MUTYH. Its recessive inheritance contrasts with the usual dominant inheritance of APC-associated disease.
Henry T. Lynch: An American physician and researcher known for describing hereditary cancer syndromes, including Lynch syndrome. His work helped distinguish hereditary colorectal cancer syndromes with different clinical patterns.

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