Familial Adenomatous Polyposis

Amuse-bouche today was Familial Adenomatous Polyposis (FAP). This results from a mutation of the tumor suppressor gene APC on chromosome 5. A quick review of the features:

Develop hundreds of adenomatous colon polyps during adolescence

Have a 100% risk of developing colorectal cancer (mean age ~40y)

Associated with:

• Upper-GI tumors: Fundic gland polyps, duodenal adenomas



• Adenocarcinoma of the ampula of Vater



• Extra-intestinal features: osteomas, desmoid/soft-tissue tumors, retinal pigment hypertrophy

Here is a link to a basic BMJ review on hereditary colorectal cancer.