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Familial adenomatous polyposis: Screening and management of patients and families

Daniel C Chung, MD
Tomer Adar, MD
Section Editor
J Thomas Lamont, MD
Deputy Editor
Shilpa Grover, MD, MPH, AGAF


Familial adenomatous polyposis (FAP) is an autosomal dominant disease caused by mutations in the Adenomatous Polyposis Coli gene. Classic FAP is characterized by the presence of 100 or more adenomatous colorectal polyps. When fully developed, patients can have up to thousands of colorectal adenomas and a 100 percent risk of colorectal cancer (CRC). An attenuated form of FAP is characterized by few colorectal adenomas with a later age of onset and an 80 percent lifetime risk of CRC. Patients with FAP are also at risk for several extracolonic malignancies. This chapter will review the management of FAP. The clinical manifestations and diagnosis of FAP and other hereditary CRC syndromes are discussed separately. (See "Clinical manifestations and diagnosis of familial adenomatous polyposis" and "Lynch syndrome (hereditary nonpolyposis colorectal cancer): Screening and management" and "MUTYH-associated polyposis" and "Juvenile polyposis syndrome" and "Peutz-Jeghers syndrome: Screening and management".)


Screening for tumors associated with familial adenomatous polyposis (FAP) should be performed in individuals with a pathogenic Adenomatous Polyposis Coli mutation. Screening for FAP-associated cancers should also be performed in individuals at-risk for FAP who have either not undergone genetic evaluation or have indeterminate genetic test results. Screening for colorectal cancer and other FAP-associated cancers in these patients must be individualized based on their personal and family history of adenomas and cancer.

Individuals at-risk for FAP include:

First-degree relatives of those with FAP.

Individuals with >10 to 20 cumulative colorectal adenomas or colorectal adenomas in combination with extracolonic features associated with FAP (eg, duodenal/ampullary adenomas, desmoid tumors, papillary thyroid cancer, congenital hypertrophy of the retinal pigment epithelium, epidermal cysts, or osteomas).

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Literature review current through: Nov 2017. | This topic last updated: May 22, 2017.
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