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Familial adenomatous polyposis: Screening and management of patients and families

Nicholas J Talley, MD, PhD
Section Editor
J Thomas Lamont, MD
Deputy Editor
Shilpa Grover, MD, MPH


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 have 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 topic will review the management of FAP. The clinical manifestations and diagnosis of FAP and other hereditary CRC syndromes is 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 familial adenomatous polyposis (FAP)-associated cancers should be performed in individuals with a pathogenic adenomatous polyposis coli mutation and therefore an established diagnosis of FAP. Screening for these individuals is discussed in detail below.

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.


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Literature review current through: Sep 2016. | This topic last updated: Oct 4, 2016.
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