The ABC of APC - PubMed (original) (raw)
Review
The ABC of APC
N S Fearnhead et al. Hum Mol Genet. 2001 Apr.
Abstract
Familial adenomatous polyposis (FAP) is an autosomal dominant inherited disease characterized by the presence of adenomatous polyps in the colon and rectum, with inevitable development of colorectal cancer if left untreated. FAP is caused by germline mutations in the adenomatous polyposis coli (APC) gene. Somatic mutations in the APC gene are an early event in colorectal tumorigenesis, and can be detected in the majority of colorectal tumours. The APC gene encodes a large protein with multiple cellular functions and interactions, including roles in signal transduction in the wnt-signalling pathway, mediation of intercellular adhesion, stabilization of the cytoskeleton and possibly regulation of the cell cycle and apoptosis. The fact that APC is an integral part of so many different pathways makes it an ideal target for mutation in carcinogenesis. This review deals with our understanding to date of how mutations in the APC gene translate into changes at the protein level, which in turn contribute to the role of APC in tumorigenesis.
Similar articles
- The APC gene product and colorectal carcinogenesis.
Bonneton C, Larue L, Thiéry JP. Bonneton C, et al. C R Acad Sci III. 1996 Oct;319(10):861-9. C R Acad Sci III. 1996. PMID: 8977766 Review. - Dominant negative effect of the APC1309 mutation: a possible explanation for genotype-phenotype correlations in familial adenomatous polyposis.
Dihlmann S, Gebert J, Siermann A, Herfarth C, von Knebel Doeberitz M. Dihlmann S, et al. Cancer Res. 1999 Apr 15;59(8):1857-60. Cancer Res. 1999. PMID: 10213492 - Mutation cluster region, association between germline and somatic mutations and genotype-phenotype correlation in upper gastrointestinal familial adenomatous polyposis.
Groves C, Lamlum H, Crabtree M, Williamson J, Taylor C, Bass S, Cuthbert-Heavens D, Hodgson S, Phillips R, Tomlinson I. Groves C, et al. Am J Pathol. 2002 Jun;160(6):2055-61. doi: 10.1016/S0002-9440(10)61155-8. Am J Pathol. 2002. PMID: 12057910 Free PMC article. - Refining the relation between 'first hits' and 'second hits' at the APC locus: the 'loose fit' model and evidence for differences in somatic mutation spectra among patients.
Crabtree M, Sieber OM, Lipton L, Hodgson SV, Lamlum H, Thomas HJ, Neale K, Phillips RK, Heinimann K, Tomlinson IP. Crabtree M, et al. Oncogene. 2003 Jul 3;22(27):4257-65. doi: 10.1038/sj.onc.1206471. Oncogene. 2003. PMID: 12833148 - [Familial adenomatous polyposis syndrome (FAP): pathogenesis and molecular mechanisms].
Friedrich A, Kullmann F. Friedrich A, et al. Med Klin (Munich). 2003 Dec 15;98(12):776-82. doi: 10.1007/s00063-003-1325-2. Med Klin (Munich). 2003. PMID: 14685680 Review. German.
Cited by
- Circadian clocks in health and disease: Dissecting the roles of the biological pacemaker in cancer.
Fortin BM, Mahieu AL, Fellows RC, Pannunzio NR, Masri S. Fortin BM, et al. F1000Res. 2023 May 16;12:116. doi: 10.12688/f1000research.128716.2. eCollection 2023. F1000Res. 2023. PMID: 39282509 Free PMC article. Review. - Classification of fundic gland polyps for predicting gastric neoplasms in Helicobacter pylori-negative patients with familial adenomatous polyposis.
Shimamoto Y, Takeuchi Y, Ishiguro S, Nakatsuka SI, Yunokizaki H, Ezoe Y, Shichijo S, Maekawa A, Kanesaka T, Yamamoto S, Higashino K, Uedo N, Ishihara R, Mutoh M, Ishikawa H. Shimamoto Y, et al. Gastric Cancer. 2024 Nov;27(6):1311-1319. doi: 10.1007/s10120-024-01539-w. Epub 2024 Aug 22. Gastric Cancer. 2024. PMID: 39172199 - Rare Germline Variants in the Adenomatous Polyposis Coli Gene Associated with Dental and Osseous Anomalies.
Büki G, Antal G, Bene J. Büki G, et al. Int J Mol Sci. 2024 Jul 26;25(15):8189. doi: 10.3390/ijms25158189. Int J Mol Sci. 2024. PMID: 39125758 Free PMC article. Review. - Genomic Newborn Screening for Pediatric Cancer Predisposition Syndromes: A Holistic Approach.
Linga BG, Mohammed SGAA, Farrell T, Rifai HA, Al-Dewik N, Qoronfleh MW. Linga BG, et al. Cancers (Basel). 2024 May 26;16(11):2017. doi: 10.3390/cancers16112017. Cancers (Basel). 2024. PMID: 38893137 Free PMC article. Review.
Publication types
MeSH terms
Substances
LinkOut - more resources
Full Text Sources
Other Literature Sources
Miscellaneous