The role of BRCA mutation testing in determining breast cancer therapy

Nat Rev Clin Oncol. 2010 Dec;7(12):708-17. doi: 10.1038/nrclinonc.2010.175. Epub 2010 Nov 9.


Landmark discoveries in the field of breast cancer research include the identification of germline BRCA mutations as a cause of hereditary disease, and the use of gene-expression profiling to identify distinct subtypes of breast cancer. These findings, coupled with the availability of rapid germline testing, make it possible to identify a BRCA mutation carrier contemporaneous with a diagnosis of breast cancer. For the first time, testing for a germline mutation that predisposes to cancer has the potential to influence the immediate surgical, radiotherapeutic, and drug treatment choices of an individual with a new diagnosis of breast cancer. In this Review, we examine the implications of moving germline BRCA mutation testing from highly specialized family cancer clinics to mainstream settings.

Publication types

  • Review

MeSH terms

  • Adult
  • Age of Onset
  • Breast Neoplasms / classification
  • Breast Neoplasms / epidemiology
  • Breast Neoplasms / genetics*
  • Breast Neoplasms / prevention & control
  • Breast Neoplasms / psychology
  • Breast Neoplasms / therapy
  • Case Management
  • Ethnic Groups / genetics
  • Female
  • Gene Expression Profiling
  • Genes, BRCA1*
  • Genes, BRCA2*
  • Genes, Dominant
  • Genetic Counseling
  • Genetic Predisposition to Disease
  • Genetic Testing* / psychology
  • Germ-Line Mutation*
  • Humans
  • Mastectomy / psychology
  • Neoplasm Proteins / analysis
  • Neoplasm Proteins / genetics
  • Neoplasms, Second Primary / epidemiology
  • Neoplasms, Second Primary / prevention & control
  • Neoplastic Syndromes, Hereditary / diagnosis
  • Neoplastic Syndromes, Hereditary / epidemiology
  • Neoplastic Syndromes, Hereditary / genetics*
  • Neoplastic Syndromes, Hereditary / psychology
  • Ovarian Neoplasms / epidemiology
  • Ovarian Neoplasms / genetics
  • Precision Medicine
  • Prognosis
  • Risk


  • Neoplasm Proteins