Journal
APPLICATION OF CLINICAL GENETICS
Volume 8, Issue -, Pages 95-106Publisher
DOVE MEDICAL PRESS LTD
DOI: 10.2147/TACG.S51484
Keywords
colorectal cancer; familial adenomatous polyposis; MAP; APC; MUTYH
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Funding
- Plan Nacional de I+ D+ I y cofinanciado por el ISCIII- Subdireccion General de Evaluacion y el Fondo Europeo de Desarrollo Regional (FEDER) [PI10/00384, PI13/00719]
- Spanish Gastroenterology Association (Beca Gonzalo Mino)
- Instituto de Salud Carlos III
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Familial adenomatous polyposis (FAP) is an inherited disorder that represents the most common gastrointestinal polyposis syndrome. Germline mutations in the APC gene were initially identified as responsible for FAP, and later, several studies have also implicated the MUTYH gene as responsible for this disease, usually referred to as MUTYH-associated polyposis ( MAP). FAP and MAP are characterized by the early onset of multiple adenomatous colorectal polyps, a high lifetime risk of colorectal cancer (CRC), and in some patients the development of extracolonic manifestations. The goal of colorectal management in these patients is to prevent CRC mortality through endoscopic and surgical approaches. Individuals with FAP and their relatives should receive appropriate genetic counseling and join surveillance programs when indicated. This review is focused on the description of the main clinical and genetic aspects of FAP associated with germline APC mutations and MAP.
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