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Results
By Mayo Clinic staff
Positive test result
A positive test result means that you have a mutation in one of the breast cancer genes, BRCA1 or BRCA2, and a much higher risk of developing breast cancer or ovarian cancer compared with someone at average risk of developing these cancers. However, a positive result doesn't mean that you'll ultimately develop cancer.
Follow-up care after a positive test result might include taking specific measures to reduce your cancer risk. What you might choose to do depends on many factors — including your age, medical history, prior treatments, past surgeries and personal preferences.
To reduce your cancer risk after a positive test result, you might:
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Increase screening (surveillance). Surveillance for breast cancer if you have a BRCA mutation means having clinical breast exams every six months and mammograms every year. Your doctor might recommend additional imaging methods, such as having annual magnetic resonance imaging (MRI) exams or alternating mammograms with MRI exams every six months. You may also choose to perform monthly breast self-exams to become familiar with the normal texture of your breast tissue. Potentially worrisome breast changes may be easier for you to detect quickly if you have breast familiarity.
Surveillance for ovarian cancer includes having an annual or semiannual pelvic exam, transvaginal ultrasound imaging and a blood test to measure your cancer antigen 125 levels.
- Take a medication to reduce your risk of cancer (chemoprevention). Tamoxifen administered for a period of five years is currently the regimen most commonly used to reduce breast cancer risk in high-risk premenopausal or postmenopausal women. Another possible preventive medication is raloxifene (Evista) — a drug used for preventing and treating osteoporosis. However, it's unclear how effective tamoxifen and raloxifene may be for preventing cancers in women with genetic mutations, such as BRCA1 or BRCA2.
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Undergo preventive surgery. Preventive (prophylactic) mastectomy — surgical removal of healthy breast tissue — reduces breast cancer risk by about 90 percent. Removal of healthy fallopian tubes and ovaries (preventive salpingo-oophorectomy) reduces breast cancer risk by 50 percent in premenopausal women, and it reduces ovarian cancer risk by more than 90 percent in both pre- and postmenopausal women.
Preventive surgery doesn't eliminate all cancer risk. It's possible that cancer still might develop in the tissue that couldn't be removed through surgery.
Negative test result
A negative test result means that no BRCA gene mutation was found. However, drawing a conclusion about your cancer risk is still a bit tricky. The test result is a true negative only if it finds that you don't carry a specific BRCA mutation — that is, one that's already been identified in a relative of yours. Even then, you still have the same cancer risk as the general population.
Although the BRCA gene test can detect the majority of mutations in the BRCA1 and BRCA2 genes, it's possible that you could have a gene mutation that the test wasn't able to detect. Or you may be at high risk of hereditary cancer if your family carries a high-risk gene mutation that researchers haven't yet identified and developed a test for.
- 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.
