Hereditary and familial colon cancer

Gastroenterology. 2010 Jun;138(6):2044-58. doi: 10.1053/j.gastro.2010.01.054.


Between 2% to 5% of all colon cancers arise in the setting of well-defined inherited syndromes, including Lynch syndrome, familial adenomatous polyposis, MUTYH-associated polyposis, and certain hamartomatous polyposis conditions. Each is associated with a high risk of colon cancer. In addition to the syndromes, up to one-third of colon cancers exhibit increased familial risk, likely related to inheritance. A number of less penetrant, but possibly more frequent susceptibility genes have been identified for this level of inheritance. Clarification of predisposing genes allows for accurate risk assessment and more precise screening approaches. This review examines the colon cancer syndromes, their genetics and management, and also the common familial colon cancers with current genetic advances and screening guidelines.

Publication types

  • Portrait
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Adenomatous Polyposis Coli / genetics
  • Animals
  • Colonic Neoplasms / diagnosis
  • Colonic Neoplasms / genetics*
  • Colonic Neoplasms / prevention & control
  • Colonic Neoplasms / therapy
  • Colonoscopy
  • Colorectal Neoplasms, Hereditary Nonpolyposis / genetics
  • Gene Expression Regulation, Neoplastic*
  • Genetic Predisposition to Disease
  • Genetic Testing
  • Heredity
  • Humans
  • Mass Screening / methods
  • Pedigree
  • Peutz-Jeghers Syndrome / genetics
  • Phenotype
  • Predictive Value of Tests
  • Risk Assessment
  • Risk Factors