Familial adenomatous polyposis: a review of gastrointestinal manifestations

Familial adenomatous polyposis (FAP) is an autosomal dominant cancer predisposition syndrome. Although colonic manifestations including multiple adenomas and subsequent adenocarcinomas are characteristic of this syndrome, benign and malignant involvement of the extracolonic gastrointestinal tract is also seen. The aim of this article is to review the clinical, pathologic and molecular genetics features of familial adenomatous polyposis syndrome in the entire gastrointestinal tract. Detailed characterization of these findings can facilitate appropriate surveillance strategies, treatment and preventative measures by collective efforts between the clinicians, genetic counsellors, and pathologists.