Familial Adenomatous Polyposis (FAP)
Familial Adenomatous Polyposis (FAP) is an autosomal dominant disorder characterized by the development of thousands of adenomatous polyps in the colon.
The disease is caused by a mutation/deletion of chromosome 5q21, which normally encodes APC, a tumor suppressor gene.
Without the tumor suppressor, thousands of adenomatous polyps develop in the whole colon (pancolonic), with the rectum always affected. All cases advance to colon cancer without prophylactic removal of the colon (protocolectomy).
Subtypes of FAP include Gardner Syndrome, which includes polyposis, osseous and soft tissue tumors, congenital hypertrophy of retinal pigment epithelium, and impacted/supernumerary teeth. Another subtype is Turcot Syndrome, which involves polyposis and the development of malignant CNS tumors.
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