Hereditary breast and ovarian cancer due to mutations in BRCA1 and BRCA2

Genet Med. 2010 May;12(5):245-59. doi: 10.1097/GIM.0b013e3181d38f2f.


Hereditary breast and ovarian cancer due to mutations in the BRCA1 and BRCA2 genes is the most common cause of hereditary forms of both breast and ovarian cancer. The overall prevalence of BRCA1/2 mutations is estimated to be from 1 in 400 to 1 in 800 with a higher prevalence in the Ashkenazi Jewish population (1 in 40). Estimates of penetrance (cancer risk) vary considerably depending on the context in which they were derived and have been shown to vary within families with the same BRCA1/2 mutation. This suggests there is no exact risk estimate that can be applied to all individuals with a BRCA1/2 mutation. The likelihood of harboring a BRCA1 or BRCA2 mutation is dependent on one's personal and/or family history of cancer and can be estimated using various mutation probability models. For those individuals who have a BRCA1 or BRCA2 mutation, several screening and primary prevention options have been suggested, including prophylactic surgery and chemoprevention. Once a BRCA1 or BRCA2 mutation has been identified in a family, testing of at-risk relatives can identify those family members who also have the familial mutation and thus need increased surveillance and early intervention when a cancer is diagnosed.

Publication types

  • Review

MeSH terms

  • BRCA2 Protein / genetics
  • Ethnicity / genetics
  • Family
  • Female
  • Genes, BRCA2*
  • Humans
  • Mutation*
  • Neoplasms / genetics
  • Ovarian Neoplasms / epidemiology
  • Ovarian Neoplasms / genetics*
  • Prevalence
  • Probability
  • Risk Factors


  • BRCA2 Protein