H01025 | |
H number | H01025 |
Name | Familial adenomatous polyposis |
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. |
Category | Neoplasm DIS_PATHWAY hsa05210 Colorectal cancer |
Network | nt06503(H01025) Mismatch repair nt06504(H01025) Base excision repair |
Gene | (FAP1) APC [HSA:324] [KO:K02085] (FAP2) MUTYH [HSA:4595] [KO:K03575] (FAP3) NTHL1 [HSA:4913] [KO:K10773] (FAP4) MSH3 [HSA:4437] [KO:K08736] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | - |
Other DBs | ICD-11: 2E92.4 ICD-10: D12.6 MeSH: D011125 OMIM: 175100 608456 616415 617100 |
Reference | PMID:19822006 (FAP1_2) AUTHORS Half E, Bercovich D, Rozen P TITLE Familial adenomatous polyposis. JOURNAL Orphanet J Rare Dis 4:22 (2009) DOI:10.1186/1750-1172-4-22 PMID:21884696 (FAP1) AUTHORS Burgess AW, Faux MC, Layton MJ, Ramsay RG TITLE Wnt signaling and colon tumorigenesis--a view from the periphery. JOURNAL Exp Cell Res 317:2748-58 (2011) DOI:10.1016/j.yexcr.2011.08.010 PMID:33087284 (FAP3) AUTHORS Das L, Quintana VG, Sweasy JB TITLE NTHL1 in genomic integrity, aging and cancer. JOURNAL DNA Repair (Amst) 93:102920 (2020) DOI:10.1016/j.dnarep.2020.102920 PMID:27476653 (FAP4) AUTHORS Adam R, Spier I, Zhao B, Kloth M, Marquez J, Hinrichsen I, Kirfel J, Tafazzoli A, Horpaopan S, Uhlhaas S, Stienen D, Friedrichs N, Altmuller J, Laner A, Holzapfel S, Peters S, Kayser K, Thiele H, Holinski-Feder E, Marra G, Kristiansen G, Nothen MM, Buttner R, Moslein G, Betz RC, Brieger A, Lifton RP, Aretz S TITLE Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous Polyposis. JOURNAL Am J Hum Genet 99:337-51 (2016) DOI:10.1016/j.ajhg.2016.06.015 |