| Entry |
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| Name |
Familial adenomatous polyposis
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| Description |
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.
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| Category |
Gastrointestinal disease
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| Pathway |
| Wnt signaling pathway | | Regulation of actin cytoskeleton | | Pathways in cancer | | Colorectal cancer | | Base excision repair |
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| Gene |
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| Other DBs |
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| Reference |
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| Authors |
Half E, Bercovich D, Rozen P |
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| Title |
Familial adenomatous polyposis. |
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| Journal |
Orphanet J Rare Dis 4:22 (2009) |
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| Reference |
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| Authors |
Burgess AW, Faux MC, Layton MJ, Ramsay RG |
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| Title |
Wnt signaling and colon tumorigenesis--a view from the periphery. |
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| Journal |
Exp Cell Res 317:2748-58 (2011) |
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