Familial adenomatous polyposis

Definition:

Familial adenomatous polyposis (FAP) is an autosomal dominantly inherited disorder characterized by the early onset of hundreds to thousands of adenomas throughout in the rectum and colon. If left untreated, all patients with FAP develop colon cancer a decade after the appearance of the polyps. The genetic defect in FAP is a germline mutation in the adenomatous polyposis coli (APC) gene. In a subset of individuals, a MUTYH mutation causes a recessively inherited polyposis condition.

References:

[1]. Antony W Burgess, et al. Wnt signaling and colon tumorigenesis--a view from the periphery. Exp Cell Res. 2011 Nov 15;317(19):2748-58. [Content Brief]

[2]. Elizabeth Half, et al. Familial adenomatous polyposis. Orphanet J Rare Dis. 2009 Oct 12;4:22. [Content Brief]

[3]. Lipsa Das, et al. NTHL1 in genomic integrity, aging and cancer. DNA Repair (Amst). 2020 Sep;93:102920. [Content Brief]

[4]. Ronja Adam, et al. Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous Polyposis. Am J Hum Genet. 2016 Aug 4;99(2):337-51. [Content Brief]

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