BRCA1 and BRCA2 mutations and the risk for colorectal cancer

Clin Genet. 2015 May;87(5):411-8. doi: 10.1111/cge.12497. Epub 2014 Oct 21.


Women who carry a BRCA1 or BRCA2 mutation are at high risk of breast and ovarian cancer, and may be at moderately increased risk of other cancer types. This review examines studies to date that have evaluated the risk of BRCA1 and BRCA2 mutations for colorectal cancer. Accurate knowledge of colorectal cancer risk in BRCA1/2 carriers is important, because colonoscopy screening can prevent colorectal cancer through the removal of adenomatous polyps. Most studies that have identified an increased risk for colorectal cancer in BRCA1/2 mutation carriers were in high-risk cancer families, while studies that found no association were conducted in specific populations and involved the analysis of founder mutations. A recent prospective study of 7015 women with a BRCA1 or BRCA2 mutation identified significant fivefold increased risk of colorectal cancer among BRCA1 mutation carriers younger than 50 years [standardized incidence ratio (SIR): 4.8; 95% CI: 2.2-9], but not in women with a BRCA2 mutation or in older women. Based on this evidence, women with BRCA1 mutations should be counseled about their increased risk for early-onset colorectal cancer, and offered colonoscopy at 3- to 5-year intervals between the ages of 40 and 50 years, and should follow population guidelines thereafter.

Keywords: BRCA1; BRCA2; aspirin; colonoscopy; colorectal cancer; prevention.

Publication types

  • Review

MeSH terms

  • Colorectal Neoplasms / diagnosis
  • Colorectal Neoplasms / epidemiology*
  • Colorectal Neoplasms / genetics*
  • Colorectal Neoplasms / prevention & control
  • Early Detection of Cancer
  • Genes, BRCA1*
  • Genes, BRCA2*
  • Genetic Association Studies
  • Genetic Predisposition to Disease*
  • Genetic Testing
  • Humans
  • Mutation*
  • Penetrance
  • Prevalence
  • Risk