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breast cancer (BRCA) gene test is a blood test to check for specific changes
(mutations) in genes that help control normal cell growth. Finding changes in
these genes, called BRCA1 and BRCA2, can help determine your chance of
breast cancer and
ovarian cancer. A BRCA gene test does not test for
cancer itself. This test is only done for people with a strong family history
of breast cancer or ovarian cancer, and sometimes for those who already have
one of these diseases.
Genetic counseling before and after a BRCA test is
very important to help you understand the benefits, risks, and possible
outcomes of the test.
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 an increased risk of breast cancer. And both men and women with these changes may be at an increased risk for other cancers. The gene changes can be inherited from either
your mother's or father's side of the family.
Certain people have
a higher chance of inheriting BRCA1 or BRCA2 gene changes.1
If you don't meet any of these criteria, you are not likely to have a BRCA1 or BRCA2 gene change. Only about 2 out of 100 adult women have an increased risk of having a BRCA gene change.2
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If your family history or personal history
indicates a high chance for breast cancer, a BRCA gene test is done to check your
chance of developing this cancer.
A BRCA gene test does
not test for cancer itself. It is used to help women who have a strong family
history of breast or ovarian cancer find out if their chance is high enough to
think about prevention measures before cancer develops. These measures include:
Men with a family history
of BRCA changes also may want to be tested to find their chance of breast cancer.
For a woman who has ovarian cancer, or for a man or a woman who has breast cancer,
results from a BRCA gene test can help other family members know their chances
of these and perhaps other cancers. If the person with breast or ovarian cancer
has normal BRCA gene test results, family members probably would not benefit
from the BRCA genetic test.
Genetic counseling is strongly recommended before and
after a BRCA test to help you understand the benefits, risks, and possible
outcomes of the test. A BRCA test gives you the chance to make informed medical
and lifestyle decisions. Genetic counselors are trained to talk with you about
the test and its results, including the medical information and your emotional
This test may cause you some
worry, both before and after the test. Talk with a genetic counselor
before the test to help you prepare for and cope with this worry. Think about
what you may do if your test is positive. For example, would you consider any
prevention measures, such as the following:
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 about any concerns you have regarding 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 formmedical test information form(What is a PDF document?).
No other special preparation is needed
before you have this test.
The health professional drawing blood
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
It is common to worry before a BRCA test and while waiting
for its results.
There is very little chance of a problem from
having a blood sample taken from a vein.
Some women may be
worried about the test results and how it will affect their life insurance,
disability insurance, or long-term care insurance.
A breast cancer (BRCA) gene test is a
blood test to check your chance of developing
breast cancer and
ovarian cancer. Test results may take several
No changes were found in
the BRCA1 or BRCA2 genes.
A negative result and your overall
family risk must be considered together.
Only about 5% to 10% of breast and ovarian cancers are
linked to the BRCA1 or BRCA2 gene change. If you have a strong family history
of breast or ovarian cancer, you may still have a higher chance of developing
breast cancer even if you have a negative BRCA result. Other gene changes are
possible that make cancer more likely.
BRCA1 or BRCA2 gene
changes are present.
Women who have BRCA1 or BRCA2 gene changes
have about a 35% to 84% chance of developing breast cancer and between a 20%
and 40% chance of developing
ovarian cancer during their lifetimes.1, 3 These numbers show a wide range of chance and depend on your
other personal and family history.
Men with BRCA1 changes have a higher risk of breast cancer and possibly other cancers, such as pancreatic, testicular, or prostate cancer. Men with BRCA2 changes have an increased risk of breast, pancreatic, and prostate cancers.1
This result may mean that a gene change is present but it is
difficult for your doctor to know if the change is important and if it changes
your chances of developing cancer.
Your doctor will talk with you
about anything that may stop you from having the test or that may change the
There are several important things
to think about when you are making the decision to have a BRCA gene
Genetic counseling before and after a BRCA test will help you understand
the benefits, risks, and possible outcomes of testing. A BRCA test gives you
the chance to make informed medical and lifestyle decisions. 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.
FORCE is an organization that provides educational and emotional support for women who are making decisions about surgery to prevent breast or ovarian cancer because they are at high risk. This website also has resources for women who have cancer and are concerned about their cancer coming back. There are online resources as well as a helpline, newsletters, and information on local groups and annual conferences.
The National Cancer Institute (NCI) is a U.S. government
agency that provides up-to-date information about the prevention, detection,
and treatment of cancer. NCI also offers supportive care to people who have cancer
and to their families. NCI information is also available to doctors, nurses,
and other health professionals. NCI provides the latest information about
clinical trials. The Cancer Information Service, a service of NCI, has trained
staff members available to answer questions and send free publications.
Spanish-speaking staff members are also available.
National Cancer Institute (2009). BRCA1 and BRCA2: Cancer risk and genetic testing. Available online: http://www.cancer.gov/cancertopics/factsheet/Risk/BRCA.
U.S. Preventive Services Task Force (2005). Genetic
risk assessment and BRCA mutation testing for breast and ovarian cancer
susceptibility: Recommendation statement. Annals of Internal Medicine, 143(5): 355–361.
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.
June 28, 2013
Sarah Marshall, MD - Family Medicine & Douglas A. Stewart, MD - Medical Oncology
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