If you’re thinking about learning whether you have mutations for the BRCA1 or 2 genes, it’s important to consider both the benefits and drawbacks of learning this information.

PROS

Here are the advantages of seeking genetic testing:

If you have a family member with a confirmed BRCA mutation, and your test result is negative, your genetic counselor can tell you with greater certainty that you have the same relatively low risk of developing breast or ovarian cancer as people in the general population. Routine screening for breast cancer (self-exams, mammograms, doctor visits) will still be important for you, just as it is for all women. For ovarian cancer there are currently no widely accepted screening guidelines for women at average risk of developing the disease. Men with a negative test result know that they have the same extremely low risk of getting male breast cancer as men in the general population, and the same relatively low risk of prostate cancer.

If your test result is positive, there are steps you can take to lower your risk of breast and/or ovarian cancer, or try to detect these cancers early if they should ever develop:

• Talk to your doctor about the possibility of taking a medication such as tamoxifen, which could reduce your risk of developing breast cancer, or oral contraceptives, which could reduce your risk of ovarian cancer. While data is not clear on the safety of oral contraceptives in people at high risk for breast cancer, some doctors do recommend them for carriers of BRCA1 and BRCA2 mutations. This recommendation depends on factors including which mutation you carry and how much breast or ovarian cancer is in your family. Weigh the pros and cons of oral contraceptives with your doctor. You also may want to participate in a clinical trial on breast and/or ovarian cancer prevention to see whether other medications may be effective.
• You might take advantage of more frequent clinical exams and breast screenings — every 6 months instead of once per year — and ask for digital mammography (versus film screen mammography) and/or MRI (magnetic resonance imaging) in addition to mammography. You also may wish to have regular pelvic exams and ultrasounds, and possibly a blood test called CA-125, in an attempt to detect any early signs of ovarian cancer.
• You may consider preventive (prophylactic) surgical removal of your breasts, ovaries, or both before cancer has an opportunity to form.
• If you do develop cancer, you and your doctor will be able to make treatment decisions that take your genetic information into account.
• You can contribute to research that could eventually help to prevent or cure breast or ovarian cancer if you had genetic testing as part of a research program or if you participate in other clinical studies.
• Knowing that you carry a BRCA mutation may prompt you and your family members to make lifestyle and family planning changes or other decisions that could help lower cancer risk.

Men who test positive for BRCA mutations are considered to be at higher-than-average risk for prostate cancer. They can talk with their doctors about beginning screenings, including an annual digital rectal examination and PSA (prostate-specific antigen) blood test between ages 40 and 50. Their risk of male breast cancer is still relatively low, but higher than it is for men who do not have the mutation. Men should be sure to report any unusual breast changes or lumps to their doctors immediately.

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