Overview

The BRCA gene test is a blood test that uses DNA analysis to identify harmful changes (mutations) in either one of the two breast cancer susceptibility genes — BRCA1 and BRCA2.

Women who have inherited mutations in these genes are at an increased risk of developing breast cancer and ovarian cancer compared with the general population.

The BRCA gene test is offered only to people who are likely to have an inherited mutation based on personal or family history, or who have a specific type of breast cancer. The BRCA gene test isn't routinely performed on women at average risk of breast and ovarian cancers.

A BRCA gene test determines whether you carry an inherited BRCA mutation. If you do, your result is positive and your doctor can help you understand your cancer risk. If you don't have a mutation, this is considered a negative result. However, you may learn you have a gene variant that doctors aren't sure about. It may or may not be associated with an increased risk of breast and ovarian cancer. This result is known as a variant of uncertain significance.

Most people considering genetic testing undergo genetic counseling, which can help you understand what the results could mean for your health and help you decide whether genetic testing is right for you.

Sept. 01, 2016
References
  1. BRCA1 and BRCA2: Cancer risk and genetic testing. National Cancer Institute. http://www.cancer.gov/about-cancer/causes-prevention/genetics/brca-fact-sheet. Accessed June 3, 2016.
  2. Peshkin BN, et al. Genetic counseling and testing for hereditary breast and ovarian cancer. http://www.uptodate.com/home. Accessed June 3, 2016.
  3. AskMayoExpert. Genetic testing for BRCA1 and BRCA2 mutations. Rochester, Minn.: Mayo Foundation for Medical Education and Research; 2014.
  4. U.S. Preventive Services Task Force. Risk assessment, genetic counseling, and genetic testing for BRCA-related cancer in women: Recommendation statement. American Family Physician. 2015;91:118A.
  5. Peshkin BN, et al. BRCA1 and BRCA2-associated hereditary breast and ovarian cancer. http://www.uptodate.com/home. Accessed June 3, 2016.
  6. Niederhuber JE, et al., eds. Genetic factors: Hereditary cancer predisposition syndromes. In: Abeloff’s Clinical Oncology. 5th ed. Philadelphia, Pa.: Churchill Livingstone Elsevier; 2014. http://www.clinicalkey.com. Accessed June 3, 2016.
  7. Raby BA, et al. Genetic counseling and testing. http://www.uptodate.com/home. Accessed June 3, 2016.
  8. Isaacs C, et al. Management of patients at high risk for breast and ovarian cancer. http://www.uptodate.com/home. Accessed June 3, 2016.
  9. Stan DL, et al. Challenging and complex decisions in the management of the BRCA mutation carrier. Journal of Women's Health. 2013;22:825.
  10. Pruthi S (expert opinion). Mayo Clinic, Rochester, Minn. July 20, 2016.
  11. Brendish KH (expert opinion). Mayo Clinic, Phoenix/Scottsdale, Ariz. July 20, 2016.
  12. Genetic/familial high-risk assessment: Breast and ovarian. Fort Washington, Pa.: National Comprehensive Cancer Network. http://www.nccn.org/professionals/physician_gls/f_guidelines.asp. Accessed July 20, 2016.

BRCA gene test for breast and ovarian cancer risk