BRCA1 and BRCA2 mutations and breast cancer

Discov Med. 2011 Nov;12(66):445-53.


Genetic testing for BRCA mutations is expanding in clinical oncology centers worldwide. Testing may help target unaffected high-risk women for prevention and/or close surveillance and may also help affected women choose the best chemotherapy. Annual screening with MRI appears to be an effective surveillance strategy and should be added to mammographic screening. It is important to have an understanding of the pathologic features and the natural history of BRCA-associated breast cancers in order that individualized treatments can be developed and delivered. The goals of treatment for a woman with a BRCA-associated breast cancer should be to prevent recurrence of the initial cancer and to prevent second primary breast and ovarian cancers. Women with breast cancer and a BRCA1 mutation may benefit from tailored treatments, such as with cis-platinum or olaparib. Mutations in BRCA1 are distributed in populations throughout the world and it is important that the benefits of genetic testing and of targeted therapies be made available to women who live outside of North America and western Europe.

MeSH terms

  • Animals
  • Breast Neoplasms / genetics*
  • Breast Neoplasms / pathology
  • Breast Neoplasms / prevention & control
  • Disease Models, Animal
  • Female
  • Founder Effect
  • Genes, BRCA1*
  • Genes, BRCA2*
  • Genetic Carrier Screening
  • Humans
  • Mice
  • Mutation*
  • Ovariectomy