title: [Colorectal carcinogenesis. 1. Hereditary predisposition and colorectal cancer].
abstract: Tumors arising sporadically represent 70-80% of colorectal cancer (CRC). The two best defined forms of inherited CRC-familial multiple polyposis (FMP) and Hereditary Non-Polyposis Colon Cancer (HNPCC) account respectively for<1% and 2-3% of CRC. These rare genetic syndromes (FMP, HNPCC, Peutz-Jeghers Syndrome) are caused by major predisposing gene mutations (APC gene, MMR gene, BMPR1A. SMAD4,...) and local environmental factors play only a minor role. In the sporadic forms of CRC, 25% have significant genetic predisposition probably related to alleles with weak penetration (APC*I1307K, TGFbR1*6Ala...) and are more strongly affected by environmental factors.
authors: Service de Chirurgie Digestive, Hôpital Henri Mondor - Créteil. mehdi.karoui@hmn.aphp.fr
authors: M
authors: M
authors: Karoui
authors: C
authors: C
authors: Tresallet
authors: A
authors: A
authors: Brouquet
authors: H
authors: H
authors: Radvanyi
authors: C
authors: C
authors: Penna
mesh_terms: D011125:Adenomatous Polyposis Coli / Q000235:genetics; D003110:Colonic Neoplasms / Q000235:genetics*; D003123:Colorectal Neoplasms, Hereditary Nonpolyposis / Q000235:genetics; D004777:Environment; D016147:Genes, Tumor Suppressor; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D009154:Mutation / Q000235:genetics; D019683:Penetrance; D010580:Peutz-Jeghers Syndrome / Q000235:genetics; D012004:Rectal Neoplasms / Q000235:genetics*