Familial colon cancer syndromes: an update of a rapidly evolving field

Curr Gastroenterol Rep. 2012 Oct;14(5):428-38. doi: 10.1007/s11894-012-0280-6.


Colorectal cancer (CRC) is a major cause of morbidity and mortality in the world. Up to 30 % of CRCs have evidence of a familial component, and about 5 % are thought to be due to well-characterized inherited mutations. This review will focus on recent developments in the understanding of the individual hereditary CRC syndromes, including Lynch syndrome, familial CRC type X, familial adenomatous polyposis, MutYH-associated polyposis, Peutz-Jeghers syndrome, juvenile polyposis syndrome, PTEN hamartomatous syndrome, and serrated polyposis syndrome. Advances within the area of hereditary colon cancer syndromes paint a picture of a rapidly moving, rapidly maturing, and increasingly collaborative field with many opportunities for ongoing research and development.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Cell Adhesion Molecules / genetics
  • Colorectal Neoplasms / genetics*
  • Colorectal Neoplasms / therapy
  • DNA Glycosylases / genetics*
  • Early Detection of Cancer
  • Genetic Predisposition to Disease
  • Hamartoma Syndrome, Multiple / genetics
  • Hamartoma Syndrome, Multiple / therapy
  • Humans
  • Neoplastic Syndromes, Hereditary / genetics*
  • Neoplastic Syndromes, Hereditary / therapy


  • Cell Adhesion Molecules
  • DNA Glycosylases
  • mutY adenine glycosylase