Does this test have other names?
BRCA gene 1, BRCA gene 2, breast cancer susceptibility gene 1, breast cancer susceptibility gene 2
What is this test?
This blood test checks for mutations in the BRCA1 and BRCA2 genes. Mutations in these genes can raise the risk for certain cancers, especially breast cancer (in both men and women) and ovarian cancer in women. In both men and women, BRCA1 and BRCA2 mutations raise the risk for other types of cancers.
The BRCA genes are the most common cause of gene-related breast and ovarian cancers. In the U.S., 1 in 20 to 1 in 10 of all breast cancers and 1 in 10 to 3 in 20 of all ovarian cancers in white women are related to BRCA mutations.
Why do I need this test?
You may choose to have the BRCA test if you have a personal or family history of breast cancer and want to learn more about your risk. Insurance companies may cover the cost of this test if you have a family history of cancer.
If the test shows that you have a gene mutation, you can take steps to protect your health. This may include having breast cancer screenings more often.
What other tests might I have along with this test?
Other tests can screen for mutations in other genes. If your healthcare provider thinks you have a genetic risk for cancer, he or she may order other blood tests to screen for other genetic mutations.
What do my test results mean?
Many things may affect your lab test results. These include the method each lab uses to do the test. Even if your test results are different from the normal value, you may not have a problem. To learn what the results mean for you, talk with your healthcare provider.
The results of a BRCA test are usually simple. They will show any mutation in BRCA1 or BRCA2 genes. As with all genetic tests, there is the chance of a false positive or an unclear result. It's important to understand these possibilities before you have genetic testing.
A positive test generally means you have a known mutation in the BRCA1 or BRCA2 genes. You have a higher risk of getting certain cancers. But not all people with the mutation will get cancer.
A negative test means you likely don't have a known mutation of BRCA1 or BRCA2. But it does not mean that you will never get cancer.
It can take several weeks to get your test results.
How is this test done?
The test requires a blood sample, which is drawn through a needle from a vein in your arm.
Does this test pose any risks?
Taking a blood sample with a needle carries risks that include bleeding, infection, bruising, or feeling dizzy. When the needle pricks your arm, you may feel a slight stinging sensation or pain. Afterward, the site may be slightly sore.
Knowing your genetic status can affect you emotionally and financially. While laws protect against genetic discrimination, there is the potential for privacy and confidentiality issues. Discuss these risks with your genetic counselor.
What might affect my test results?
Other things aren't likely to affect your test results.
How do I get ready for this test?
Your healthcare provider will recommend genetic counseling before and after testing. This is to help you understand possible risks or unclear test results.
Counseling can also make it easier to cope with the emotional reaction to a positive test result and provide guidance about family planning.
Be sure your provider knows about all medicines, herbs, vitamins, and supplements you are taking. This includes medicines that don't need a prescription and any illicit drugs you may use.
May 23, 2017
Genetic testing for hereditary breast and ovarian cancer syndrome. UpToDate.
Greco, Frank, MD,Sather, Rita, RN