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Definition
By Mayo Clinic staffThe 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 face a much higher 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 specific types of breast cancer. The BRCA gene test isn't routinely performed on women at average risk of breast and ovarian cancers.
Having a BRCA gene mutation is uncommon. Inherited BRCA gene mutations are responsible for about 5 percent of breast cancers and about 10 to 15 percent of ovarian cancers.
From a BRCA gene test, you learn whether you carry an inherited BRCA gene mutation and receive an estimate of your personal risk of breast cancer and ovarian cancer. Genetic counseling is an important part of the BRCA gene test process.
- BRCA1 and BRCA2: Cancer risk and genetic testing. National Cancer Institute. http://www.cancer.gov/cancertopics/factsheet/Risk/BRCA. Accessed June 3, 2013.
- Isaacs C, et al. Genetic testing for hereditary breast and ovarian cancer syndrome. http://www.uptodate.com/home. Accessed June 3, 2013.
- Lindor NM, et al. A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS). Human Mutation. 2012;33:8.
- Kurion AW, et al. Breast cancer risk for noncarriers of family-specific BRCA1 and BRCA2 mutations: Findings from the breast cancer family registry. Journal of Clinical Oncology. 2011;29:4505.
- Pruthi S, et al. Identification and management of women with BRCA mutations or hereditary predisposition for breast and ovarian cancer. Mayo Clinic Proceedings. 2010;85:1111.
- Mackay J, et al. Genetic counseling for hereditary predisposition to ovarian and breast cancer. Annals of Oncology. 2010;21:vii 334.
- Raby BA, et al. Genetic counseling and testing. http://www.uptodate.com/home. Accessed June 3, 2013.
- Isaacs C, et al. Management of hereditary breast and ovarian cancer syndrome and patients with BRCA mutations. http://www.uptodate.com/home. Accessed June 3, 2013.
- Kurian AW,et al. Survival analysis of cancer risk reduction strategies for BRCA1/2 mutation carriers, Journal of Clinical Oncology. 2010;28:222.
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