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Definition
By Mayo Clinic staffThe BRCA gene test is a blood test that uses DNA analysis to identify changes (mutations) in either one of two breast cancer susceptibility genes — known as BRCA1 or BRCA2. Genetic counseling also is part of the BRCA gene test process. After having a BRCA gene test performed, you learn whether you carry an inherited BRCA gene mutation and receive an estimate of your personal risk of breast cancer and ovarian cancer.
The BRCA gene test is a type of genetic test that's possible only for certain diseases that run in families, and it's offered only to women who are at very high risk of breast cancer and ovarian cancer based on personal or family history. The BRCA gene test isn't routinely performed on women at average risk of these cancers.
Having a BRCA gene mutation is rare, occurring only in about one in 1,000 people. Inherited BRCA gene mutations are responsible for less than 5 to 10 percent of breast cancers and about 10 to 15 percent of ovarian cancers. The majority of these cancers occur sporadically and aren't inherited.
- Peshkin BN, et al. Patient information: Genetic testing for breast and ovarian cancer. http://www.uptodate.com/home/index.html. Accessed Oct. 17, 2008.
- U.S. Preventive Services Task Force. Genetic risk assessment and BRCA mutation testing for breast and ovarian cancer susceptibility: Recommendation statement. Annals of Internal Medicine. 2005;143:355.
- The American College of Obstetricians and Gynecologists. Elective and risk-reducing salpingo-oophorectomy. Obstetrics & Gynecology. 2008;111:231.
- Genetic testing for BRCA1 and BRCA2: It's your choice. National Cancer Institute. http://www.cancer.gov/cancertopics/factsheet/Risk/BRCA. Accessed Oct. 22, 2008.
- Cancer facts and figures 2008. American Cancer Society. http://www.cancer.org/downloads/STT/2008CAFFfinalsecured.pdf. Accessed Oct. 17, 2008.
- Brown KL, et al. Genetic counseling for breast cancer risk: General concepts, challenging themes and future directions. Breast Disease. 2006-2007;27:69.
- Lindor NM, et al. Concise handbook of familial cancer susceptibility syndromes - Second edition. Journal of the National Cancer Institute. Monographs. 2008;38:1.
- Rebbeck TR, et al. Bilateral prophylactic mastectomy reduces breast cancer risk in BRCA1 and BRCA2 mutation carriers: The PROSE study group. Journal of Clinical Oncology. 2004;22:1055.
- Finch A, et al. Salpingo-oophorectomy and the risk of ovarian, fallopian tube, and peritoneal cancers in women. Journal of the American Medical Association. 2006;296:185.
