[Colorectal carcinogenesis. 1. Hereditary predisposition and colorectal cancer]

J Chir (Paris). 2007 Jan-Feb;144(1):13-8. doi: 10.1016/s0021-7697(07)89450-6.
[Article in French]

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.

Publication types

  • English Abstract
  • Review

MeSH terms

  • Adenomatous Polyposis Coli / genetics
  • Colonic Neoplasms / genetics*
  • Colorectal Neoplasms, Hereditary Nonpolyposis / genetics
  • Environment
  • Genes, Tumor Suppressor
  • Genetic Predisposition to Disease / genetics*
  • Humans
  • Mutation / genetics
  • Penetrance
  • Peutz-Jeghers Syndrome / genetics
  • Rectal Neoplasms / genetics*