Genetic testing for BRCA gene mutations

Genetic testing for BRCA gene mutations

Many women may have relatives with breast cancer, but in most cases this is not the
result of BRCA gene mutations. Genetic testing for these mutations can be expensive and
the results are often not clear cut. Testing can have a wide range of consequences that
need to be considered. It should only be done when there is a reasonable suspicion that a
mutation may be present.
The U.S. Preventive Services Task Force (USPSTF) recommends that only women with a
strong family history be evaluated for genetic testing for BRCA mutations. This group
represents only about 2% of adult women in the United States.
The USPSTF recommends that women who are not of Ashkenazi (Eastern European)
Jewish heritage should be referred for genetic evaluation if they have any of the
following:
· 2 first-degree relatives (mother, sisters, daughters) with breast cancer, one of whom
was diagnosed when they were younger than 50
· 3 or more first- or second-degree relatives (includes grandmothers, aunts) diagnosed
with breast cancer
· Both breast and ovarian cancer among first- and second-degree relatives
· A first-degree relative diagnosed with cancer in both breasts
· 2 or more first- or second-degree relatives diagnosed with ovarian cancer
· A male relative with breast cancer
Women of Ashkenazi (Eastern European) Jewish heritage should be referred for genetic
evaluation if they have:
· A first-degree relative with breast or ovarian cancer
· 2 second-degree relatives on the same side of the family with breast or ovarian cancer
Other medical groups have different guidelines for referral for genetic risk evaluation that
your doctor may follow. For example, the National Comprehensive Cancer Network
guidelines advise referring women 60 and under who have triple negative breast cancer.
If you are considering genetic testing, it is strongly recommended that you talk first to a
genetic counselor, nurse, or doctor qualified to explain and interpret the results of these
tests. It is very important to understand what genetic testing can and can't tell you, and to
carefully weigh the benefits and risks of testing before these tests are done. Testing is
expensive and may not be covered by some health insurance plans.

Most cancer centers employ a genetic counselor who will assess your risk of carrying a
mutated BRCA gene, explain the risks and benefits of testing, and check with your
insurance company to see if they will cover the test.
For more information, see our document, Genetic Testing: What You Need to Know. You
might also want to visit the National Cancer Institute Web site.