Breast cancer risk associated with BRCA1 and BRCA2 in diverse populations

Nat Rev Cancer. 2007 Dec;7(12):937-48. doi: 10.1038/nrc2054.


Germline mutations in the BRCA1 or BRCA2 tumour-suppressor genes are strong predictors of breast and/or ovarian cancer development. The contribution of these mutations to breast cancer risk within any specific population is a function of both their prevalence and their penetrance. Mutation prevalence varies among ethnic groups and may be influenced by founder mutations. Penetrance can be influenced by mutation-specific phenotypes and the potential modifying effects of the patient's own genetic and environmental background. Although estimates of both mutation prevalence and mutation penetrance rates are inconsistent and occasionally controversial, understanding them is crucial for providing accurate risk information to each patient.

Publication types

  • Review

MeSH terms

  • Breast Neoplasms / epidemiology*
  • Breast Neoplasms / genetics*
  • Breast Neoplasms, Male / epidemiology
  • Breast Neoplasms, Male / genetics
  • Female
  • Genes, BRCA1*
  • Genes, BRCA2*
  • Genetic Predisposition to Disease / epidemiology*
  • Genetic Testing / methods
  • Genetics, Population
  • Germ-Line Mutation
  • Global Health
  • Humans
  • Male
  • Prevalence