What is BRCA Testing?
The 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.
BRCA Testing 101 with Courtney Miller, WHNP, BC
Frequently Asked Questions About BRCA Testing
Who should have BRCA testing?
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.
At Elite Women’s Health, it is our goal to offer personalized healthcare to each of our patients. Our providers will examine your personal and family cancer history and if your family history indicates you are at higher risk for carrying the BRCA mutations, we will refer you to Courtney Miller, our Women’s Health Nurse Practitioner. Courtney will sit down with you and have an in-depth discussion on the benefits and risks of BRCA testing and assess if this test if the right one for you.
What are the chances that I would carry a BRCA mutation?
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 (Mayo Clinic, 2014).
How do I know if I am at increased risk for breast and/or ovarian Cancer?
If you have a personal or family history of any of the cancers listed below. The National Cancer Institute (NCI) provides the following guidelines for screening if the patient or their family members have any of the following:
- Breast cancer diagnosed before age 50
- Cancer in both breasts
- Both breast and ovarian cancers
- Ovarian cancer at any age
- Multiple breast cancers
- “Triple negative” breast cancer
- Two or more primary types of BRCA1- or BRCA2-related cancers in a single family member
- Male breast cancer
- Ashkenazi Jewish ethnicity with an HBOC (Hereditary Breast and Ovarian Cancer)-associated cancer at any age (HBOC-related cancers include: DCIS (ductal carcinoma in situ) of the breast, ovarian, pancreatic, and aggressive prostate cancer)
How should I prepare for my appointment?
To prepare for your meeting to discuss your BRCA testing, you should:
- Gather information about your family’s medical history, especially that of close relatives.
- Document your personal medical history, including collecting records from specialists or results of previous genetic testing, if available.
- Write down questions for the provider.
- Consider having a friend or family member accompany you to help ask questions or take notes.
Proceeding with genetic testing after you meet with our provider and/or genetic counselor is up to YOU.
What can I expect if I proceed with BRCA testing?
The BRCA gene test is a blood test. The provider or medical technician inserts a needle into a vein, usually in your arm, to draw the blood sample needed for testing. Your blood sample then goes to a lab for DNA analysis.
It takes several weeks before test results are available and we understand this can be a stressful time waiting for results. Be assured, our providers will contact you with your test results as soon as they are available, to discuss their implications, and go over your options.
Federal and state laws help ensure the privacy of your genetic information and protect against discrimination in health insurance and employment.
What if my results come back “positive” for BRCA mutation?
A positive test result means that you have a harmful 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 who doesn’t have the mutation. But 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 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:
- Increase screening (surveillance). Surveillance for breast cancer if you have a BRCA mutation means having clinical breast exams every six months and mammograms and magnetic resonance imaging (MRI) exams every year. Some experts recommend alternating mammogram and breast MRI every six months. These tests don’t prevent breast cancer but may help detect it early.We recommend monthly self breast exams (SBE) to become familiar with the normal texture of your breast tissue. Potentially worrisome breast changes may be easier for you to detect earlier if you know what’s normal. If you feel you have concerns, you should call your provider to discuss these concerns as soon as possible.Surveillance for ovarian cancer with available tests has not been found effective in early detection of cancer, nor has it shown a survival benefit. The tests include having semiannual pelvic exams and yearly transvaginal ultrasound imaging and a blood test to measure your cancer antigen 125 level. (Mayo Clinic, 2014)..
- Take a medication to reduce your risk of cancer (chemoprevention). Tamoxifen reduces the risk of developing breast cancer by about 50 percent in women who are at increased risk of the disease. Some small studies have shown that tamoxifen may help lower the risk in women specifically with a BRCA 2 gene mutation.Another preventive medication is raloxifene (Evista), which also helps reduce the chance of breast cancer in postmenopausal women at high risk, though it hasn’t been studied specifically in women with BRCA mutations.
- Undergo preventive surgery. Preventive (prophylactic) mastectomy — surgical removal of healthy breast tissue — reduces breast cancer risk for BRCA gene carriers by about 90 percent, according to several studies. Removal of healthy fallopian tubes and ovaries (preventive salpingo-oophorectomy) reduces breast cancer risk by as much as 50 percent in premenopausal women, and it reduces ovarian cancer risk by as much as 90 percent in both pre- and postmenopausal women.Preventive surgery doesn’t eliminate all cancer risk. It’s possible for cancer to develop in any tissue that couldn’t be removed through surgery.
What does it mean if I have a “negative” result?
A negative test result means that no BRCA gene mutation was found. However, assessing your cancer risk is still difficult. The test result is considered a “true negative” only if it finds that you don’t carry a specific BRCA mutation that’s already been identified in a relative.
Keep in mind that a negative test result doesn’t eliminate the chance of developing a nonhereditary breast cancer. You still have the same cancer risk as that of the general population.
Although the BRCA gene test can detect the majority of mutations in the BRCA1 and BRCA2 genes, 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.
What if I still have questions?
At Elite Women’s Health, we understand that BRCA testing can be a complicated and emotional issue for our patients. If you are thinking of or having questions that this test is right for you, please make an appointment with one of our providers. We can ease your concerns and answer any questions that you may have.
This test has helped thousands of women get information that has enabled them to make important choices and take steps to reduce their risk of breast and ovarian cancer. We want our patients at Elite Women’s Health to empower themselves in all their healthcare decisions, especially when it comes to Breast and Ovarian Cancer.
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