What is BRCA testing?
BRCA1 and BRCA2 are human genes that belong to a class of genes known as tumor suppressors. Mutation of these genes has been linked to hereditary breast and ovarian cancer, and the risks of developing breast and/or ovarian cancer is greatly increased if the BRCA1 or BRCA2 mutations have been inherited.
Both men and women who have harmful BRCA1 or BRCA2 mutations may be at increased risk of other types of cancer.
Genetic tests are available to check for BRCA1 and BRCA2 mutations. A blood sample is required for these tests, and genetic counseling is recommended before and after the tests.
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According to Cancer.gov, people with the below types of family medical histories can benefit the most from BRCA testing:
- Two first-degree relatives (mother, daughter or sister) were diagnosed with breast cancer, one of whom was diagnosed at age 50 or younger;
- Three or more first-degree or second-degree (grandmother or aunt) relatives were diagnosed with breast cancer regardless of their age at diagnosis;
- A combination of first- and second-degree relatives were diagnosed with breast cancer and ovarian cancer (one cancer type per person);
- A first-degree relative with cancer was diagnosed in both breasts ( bilateral breast cancer);
- A combination of two or more first- or second-degree relatives were diagnosed with ovarian cancer regardless of age at diagnosis;
- A first- or second-degree relative was diagnosed with both breast and ovarian cancer regardless of age at diagnosis; and breast cancer was diagnosed in a male relative.
How Likely Is It That I’ll Test Positive For The Mutation?
In all, between 0.125 and 0.25 percent of women will test positive for the BRCA mutation, and it varies by ethnicity. These women have an increased risk of getting breast cancer and ovarian cancer.
Men carry the BRCA mutation, too, so if a woman with a mutation has a son, he has a 50 percent chance of being a carrier and having the mutation. Men with the mutation face increased risks of breast cancer, certain kinds of pancreatic cancer, testicular cancer and prostate cancer.
What Happens If I Test Positive?
If you do test positive for BRCA, you have options, depending on your age, fertility, medical health and the cost. Many choose surgery, but it’s isn’t the only option. Some opt for cancer surveillance, such as mammograms and regular pelvic sonograms and blood-tests to watch for ovarian cancer. Monitoring, of course, does not reduce risk, but rather potentially improves early detection of cancer.
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Other options include chemo-prevention, or taking certain medications to reduce cancer risk. For example, some women take a drug called tamoxifen to prevent breast cancer and others take birth-control pills to prevent ovarian cancer.
Because these decisions are sometimes very difficult ones to make, patients can seek consultations with oncologists, general gynecologists, gynecologic oncologists, breast surgeons and reconstructive plastic surgeons.
