Hereditary and common familial colorectal cancer: evidence for colorectal screening

Dig Dis Sci. 2015 Mar;60(3):734-47. doi: 10.1007/s10620-014-3465-z. Epub 2014 Dec 12.

Abstract

Colorectal cancer (CRC) is the fourth most common cancer among men and women. Between 3 and 6% of all CRCs are attributed to well-defined inherited syndromes, including Lynch syndrome, familial adenomatous polyposis, MUTYH-associated polyposis and several hamartomatous conditions. Up to 30% of CRC cases exhibit common familial risk, likely related to a combination of inherited factors and environment. Identification of these patients through family history and appropriate genetic testing can provide estimates of cancer risk that inform appropriate cancer screening, surveillance and/or preventative interventions. This article examines the colon cancer syndromes, their genetic basis, clinical management and evidence supporting colorectal screening. It also deals with the category of common (non-syndromic) familial risk including risk determination and screening guidelines.

Publication types

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

MeSH terms

  • Adenomatous Polyposis Coli / diagnosis*
  • Adenomatous Polyposis Coli / genetics
  • Colorectal Neoplasms, Hereditary Nonpolyposis / diagnosis*
  • Colorectal Neoplasms, Hereditary Nonpolyposis / genetics
  • DNA Glycosylases / genetics
  • Humans
  • Mass Screening*
  • Peutz-Jeghers Syndrome / diagnosis
  • Peutz-Jeghers Syndrome / genetics

Substances

  • DNA Glycosylases
  • mutY adenine glycosylase