Breast Cancer (BRCA) Gene Test

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Test Overview

A breast cancer (BRCA) gene test is a blood test to check for changes (mutations) in genes called BRCA1 and BRCA2. This test can help you know your chance of getting breast cancer and ovarian cancer. A BRCA gene test does not test for cancer itself.

A woman's risk of breast and ovarian cancer is higher if she has BRCA1 or BRCA2 gene changes. Men with these gene changes have a higher risk of breast cancer. And both men and women with these changes may be at higher risk for other cancers. You can inherit the gene changes from either your mother's or father's side of the family.

This test is only done for people who have a strong family history of breast cancer or ovarian cancer or who already have one of these diseases. If none of these is true for you, you are not likely to have a BRCA gene change. Only about 2 or 3 out of 1,000 adult women have a BRCA gene change. That means 997 or 998 out of 1,000 women do not have this change.footnote 1

It is very important to have genetic counseling both before and after this test. It can help you understand the benefits, risks, and possible outcomes of the test.

Breast Cancer Risk: Should I Have a BRCA Gene Test?

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Why It Is Done

A BRCA gene test is done to find out if you have BRCA gene changes that increase your risk of breast and ovarian cancer.

You may be more likely to have a BRCA gene change if you:footnote 1

  • Were diagnosed with breast cancer before age 50.
  • Have had breast cancer in both breasts.
  • Have had breast cancer and ovarian cancer.
  • Have one or more male family members who have had breast cancer.
  • Have multiple cases of breast cancer in your family.
  • Have at least one family member who has had BRCA-related cancer.
  • Are an Ashkenazi Jew (a Jewish person whose ancestors came from Eastern Europe).

The results of a BRCA gene test can help you find out how high your cancer risk is. If it is high, you might decide to take steps to lower your risk. There are several things you might do, such as:

  • Have checkups and tests more often.
  • Have surgery to remove your breasts.
  • Have surgery to remove your ovaries.
  • Take medicines that may help prevent breast cancer.

If you have a family member who has breast or ovarian cancer, you may want to ask that family member to have a gene test first. If your relative's test finds a changed BRCA gene, you and other family members can then be tested for that specific gene change. But if your family member's test is negative, it is not likely that you carry the gene change.

How To Prepare

The information from a BRCA gene test can have a deep impact on your life. So it is very important to get genetic counseling before you have this test. A genetic counselor can talk with you about the test, what the results mean, and your medical and emotional concerns.

You will be asked to sign a consent form that says you understand the risks of the test and agree to have it done.

Talk to your doctor if you have any concerns about the need for the test, its risks, or how it will be done. To help you understand the importance of this test, fill out the medical test information form (What is a PDF document?).

How It Is Done

The health professional taking a sample of your blood will:

  • Wrap an elastic band around your upper arm to stop the flow of blood. This makes the veins below the band larger so it is easier to put a needle into the vein.
  • Clean the needle site with alcohol.
  • Put the needle into the vein. More than one needle stick may be needed.
  • Attach a tube to the needle to fill it with blood.
  • Remove the band from your arm when enough blood is collected.
  • Put a gauze pad or cotton ball over the needle site as the needle is removed.
  • Put pressure on the site and then put on a bandage.

How It Feels

The blood sample is taken from a vein in your arm. An elastic band is wrapped around your upper arm. It may feel tight. You may feel nothing at all from the needle, or you may feel a quick sting or pinch.

It is common to worry before a BRCA test and while waiting for its results.

Risks

There is very little chance of a problem from having a blood sample taken from a vein.

  • You may get a small bruise at the site. You can lower the chance of bruising by keeping pressure on the site for several minutes.
  • In rare cases, the vein may become swollen after the blood sample is taken. You can use a warm compress several times a day to treat this.

Bleeding can be a problem for people who have bleeding disorders or take blood-thinning medicines such as aspirin or warfarin (Coumadin). If you have bleeding or clotting problems, or if you take blood-thinning medicine, tell your doctor before your blood sample is taken.

Other risks

The information from a BRCA test can affect you and your family in many ways. For example:

  • You may feel anxious or depressed if you learn that you have a high risk of cancer and could pass that risk onto your children. This information could also affect your relationship with your partner or other family members.
  • If you test positive for a BRCA gene change, you will face hard decisions about options to reduce your risk, such as surgery to remove your breasts (mastectomy).
  • You may worry that your genetic information could affect your job options or ability to get insurance. In the United States, there is a law called the Genetic Information Nondiscrimination Act of 2008 (GINA). It prevents employers and health insurance companies from using a person's genetic information in employment or coverage decisions. But this law does not cover life insurance, disability insurance, or long-term care insurance.

Results

A breast cancer (BRCA) gene test is a blood test to check for changes (mutations) in genes called BRCA1 and BRCA2. This test can help find out your chance of getting breast cancer and ovarian cancer.

It may take several weeks to get the results.

Normal (negative)

No changes were found in the BRCA1 or BRCA2 genes.

A negative result and your overall family risk must be considered together. If you have a strong family history of breast or ovarian cancer, your cancer risk may be higher than normal even if you have a negative BRCA result.

  • Only about 5% to 10% of breast and ovarian cancers are linked to the BRCA1 or BRCA2 gene change.
  • It is possible that you may have other gene changes that make cancer more likely.

Abnormal (positive)

BRCA1 or BRCA2 gene changes are present.

Women who have BRCA1 or BRCA2 gene changes have:footnote 2

  • A 35% to 84% chance of getting breast cancer at some time in their lives.
  • A 20% to 40% chance of getting ovarian cancer at some time in their lives.

Your range of risk will depend on the type of genes you have and your personal and family history of cancer.

Men who have BRCA1 changes have a higher risk of breast cancer and possibly other cancers, such as pancreatic, testicular, or prostate cancer. Men who have BRCA2 changes have a higher risk of breast, pancreatic, and prostate cancers.footnote 3

Uncertain (variant of uncertain significance, or VUS)

This result may mean that a gene change is present, but it is hard for your doctor to tell if the change is important and if it affects your chances of getting cancer.

Breast Cancer: What Should I Do if I'm at High Risk?

What Affects the Test

Your doctor will talk with you about anything that may keep you from having the test or that may change the test results.

What To Think About

There are some important things to keep in mind when you are thinking about having a BRCA gene test.

  • A negative BRCA result does not guarantee that you will not get breast cancer. BRCA gene changes do increase the risk of breast cancer. But there are other gene changes that may cause cancer, too.
  • If a family member has breast or ovarian cancer, think about asking that person to have the BRCA test before you decide to have the test. If your family member's results are negative, it probably will not help to test the rest of the family.
  • Most insurance companies will cover the cost of genetic testing if you meet the conditions for testing.
  • Finding out that you have a BRCA gene change should not affect your ability to get a job or get health insurance. In the United States, there is a law called the Genetic Information Nondiscrimination Act of 2008 (GINA). It protects people who have DNA differences. This law does not cover life insurance, disability insurance, or long-term care insurance.
  • Experts don't recommend BRCA testing for women who do not have family risk factors for BRCA changes. If your family doesn't have risk factors, the BRCA test is not likely to give you any useful information about your risk of breast cancer. Women from average-risk families rarely have a positive test. And sometimes the test shows a gene change when there when there isn't one. This is called a false-positive result.

Genetic counseling before and after a BRCA test can help you understand the benefits, risks, and possible outcomes of testing.

  • To find doctors who do gene tests and counseling, call the Cancer Information Service at the National Cancer Institute at 1-800-4-CANCER (1-800-422-6237).
  • To find a genetic counselor near you, contact the National Society of Genetic Counselors at (312) 321-6834 or visit their website at www.nsgc.org.
Breast Cancer Risk: Should I Have a BRCA Gene Test?
Breast Cancer: What Should I Do if I'm at High Risk?

Other Places To Get Help

Organizations

FORCE: Facing Our Risk of Cancer Empowered (U.S.)
www.facingourrisk.org
National Cancer Institute (U.S.)
www.cancer.gov (or https://livehelp.cancer.gov/app/chat/chat_launch for live help online)

References

Citations

  1. U.S. Preventive Services Task Force (2013). Risk assessment, genetic counseling, and genetic testing for BRCA-related cancer in women: U.S. Preventive Task Force recommendation statement. U.S. Preventive Services Task Force. http://www.uspreventiveservicestaskforce.org/uspstf12/brcatest/brcatestfinalrs.htm. Accessed March 6, 2014.
  2. Fleming GF, et al. (2009). Epithelial ovarian cancer. In RR Barakat et al., eds., Principles and Practice of Gynecologic Oncology, 5th ed., pp. 763–835. Philadelphia: Lippincott Williams and Wilkins.
  3. National Cancer Institute (2009). BRCA1 and BRCA2: Cancer risk and genetic testing. Available online: http://www.cancer.gov/cancertopics/factsheet/Risk/BRCA.

Credits

ByHealthwise Staff
Primary Medical Reviewer Sarah Marshall, MD - Family Medicine
Specialist Medical Reviewer Douglas A. Stewart, MD - Medical Oncology

Current as ofNovember 14, 2014