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How common are BRCA1 and BRCA2 mutations?

  • In the general population, between one in 300 and one in 800 individuals carry a BRCA1 or 2 or mutation.1
  • For individuals of Ashkenazi Jewish ancestry, one in 40 individuals carry a BRCA1 or 2 mutation.

What percentage of breast and ovarian cancers are caused by BRCA1 or BRCA2 mutations?

  • 5 percent-10 percent of all breast cancer.
  • Up to 15 percent of ovarian cancers.1-4

What are the lifetime cancer risks associated with BRCA1 and BRCA2 mutations?

  • Breast cancer: 44 percent-87 percent
  • Ovarian cancer: 20 percent-50 percent
  • Male breast cancer and pancreatic cancer: ~7 percent

Which patients should I refer to a genetic counselor for risk assessment and discussion of genetic testing for BRCA1 and BRCA2 mutations?

Patients who have a personal or family history (this includes maternal or paternal lineages) or those who have had:1-2,4

  • Breast cancer at a young age (younger than age 50)
  • Ovarian cancer at any age
  • Bilateral breast cancer or 2 or more primary tumors of the breast
  • Breast and ovarian cancer
  • Breast cancer and are male
  • Two or more biological relatives* on the same side of the family with breast and/or ovarian cancer (*parent, child, siblings, grandparent, grandchild, aunt/uncle, niece/nephew, first cousin)
  • Breast or ovarian cancer and are of Ashkenazi Jewish ancestry
  • Confirmed BRCA1 or BRCA2 mutation in their family

Specific indications for genetic counseling and testing vary among professional organizations. The indications above are to be used as a guide and are not a substitute for clinical judgment. Not all clinical scenarios can be anticipated such as when there is a limited family structure or family medical history.

What are the benefits of genetic counseling when offering BRCA1 and BRCA2 testing?

  • Patient education and informed consent are critical aspects of the genetic testing process and will help individuals decide if genetic testing is right for them.
  • Pre-test counseling addresses the implications of potential test results, medical management options, psychosocial challenges, laws protecting against genetic discrimination, other options for testing and testing costs. Examples include:
    • The possibility of false negative results because genes other than BRCA1 and 2 may be responsible for cancers in the family
    • The possibility of test results with mutations noted to have “uncertain clinical significance”
    • The cost of BRCA gene testing differs depending on which level of testing is indicated ($440-$3,770)
    • The possibility of indirectly disclosing non-paternity, non-disclosed adoptions or use of egg or sperm donation
  • If help is needed, a genetics health care professional also can provide assistance with dissemination of relevant information to at-risk family members.


Genetics health care professionals:

BRCA1 and BRCA2 referral, testing and risk management guidelines:

Patient friendly facts about genetic testing for breast and ovarian cancer risk


  1. Berliner, J.L. et al. (2007) Risk assessment and genetic counseling for hereditary breast and ovarian cancer: Recommendations of the National Society of Genetic Counselors. Journal of Genetic Counseling. 16:241-260.
  2. U.S. Centers for Disease Control and Prevention. Located September 4, 2009, at
  3. Pinsky, L.E., et al. (2001) Why should primary care physicians know about breast cancer genetics? Western Journal of Medicine. 175:168-173.
  4. Guidelines listed in Resources above.