Learn About Familial Adenomatous Polyposis

What is the definition of Familial Adenomatous Polyposis?

Familial adenomatous polyposis (FAP) is an inherited disorder characterized by cancer of the large intestine (colon) and rectum. People with the classic type of familial adenomatous polyposis may begin to develop multiple noncancerous (benign) growths (polyps) in the colon as early as their teenage years. Unless the colon is removed, these polyps will become malignant (cancerous). The average age at which an individual develops colon cancer in classic familial adenomatous polyposis is 39 years. Some people have a variant of the disorder, called attenuated familial adenomatous polyposis, in which polyp growth is delayed. The average age of colorectal cancer onset for attenuated familial adenomatous polyposis is 55 years.

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What are the causes of Familial Adenomatous Polyposis?

Mutations in the APC gene cause both classic and attenuated familial adenomatous polyposis. These mutations affect the ability of the cell to maintain normal growth and function. Cell overgrowth resulting from mutations in the APC gene leads to the colon polyps seen in familial adenomatous polyposis. Although most people with mutations in the APC gene will develop colorectal cancer, the number of polyps and the time frame in which they become malignant depend on the location of the mutation in the gene.

How prevalent is Familial Adenomatous Polyposis?

The reported incidence of familial adenomatous polyposis varies from 1 in 7,000 to 1 in 22,000 individuals.

Is Familial Adenomatous Polyposis an inherited disorder?

Familial adenomatous polyposis can have different inheritance patterns.

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What are the latest Familial Adenomatous Polyposis Clinical Trials?
A Phase 2, Multicenter, Randomized, Double-Blind, Placebo-Controlled Trial to Evaluate Efficacy, Safety, and Pharmacokinetics of REC-4881 in Patients With Familial Adenomatous Polyposis (FAP)

Summary: This is a Phase 2, randomized, double-blind, placebo-controlled trial to evaluate efficacy, safety, and pharmacokinetics of REC-4881 in participants with Familial Adenomatous Polyposis (FAP).

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Effective Familial OutReach Via Tele-genetics (EfFORT): A Sustainable Model to Expand Access to MSK's Genetic Services

Summary: The purpose of this study is to evaluate a cascade genetic testing intervention. Cascade testing is the process of offering genetic testing to people who are at risk of having inherited a possibly harmful gene change that has been found in their family. This process is repeated as more people within the family are found to have the gene change. The study will look at how often genetic testing occu...

Who are the sources who wrote this article ?

Published Date: October 01, 2013Published By: National Institutes of Health

What are the Latest Advances for Familial Adenomatous Polyposis?
Management of pouch neoplasia: consensus guidelines from the International Ileal Pouch Consortium.
Long-term prognosis of familial adenomatous polyposis with or without mucosectomy.
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A systematic review and meta-analysis of the outcome of ileal pouch-anal anastomosis in patients with ulcerative colitis versus patients with familial adenomatous polyposis.