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Test for Breast Cancer Gene

By:
Kelly Shanahan

Question :

Because I have a strong family history of breast cancer, my doctor has ordered the blood test for the breast cancer gene. What will this information tell me, and what should I do with it? I'm 32.

-- Katy

Answer :

You have touched on a big problem with just anybody being able to order the BRCA gene testing to detect familial types of breast cancer -- lack of counseling beforehand. Before the testing is ordered, a thorough family history should be taken. Currently, testing is recommended only for women with two or more first-degree relatives (mother, sister, daughter) with breast and/or ovarian cancer. Next, you must be informed as to what positive and negative test results might mean. It is NOT black and white. While a positive test result indicates increased risk of developing breast cancer, it is by no means a 100 percent guarantee that you will. Likewise, a negative result does not mean you will not get breast cancer; you just won't get breast cancer caused by a BRCA mutation!

First of all, the women in your family who have had breast cancer should be tested to see if they have the mutation in the first place; then you can be tested. If the women with known breast cancer do not have the mutation, then there is no point in your being tested for it. If your family does have one of the BRCA mutations and you test positive as well, then you must weigh whether or not to have a prophylactic mastectomy (removal of the breasts to prevent cancer). Potential ramifications in terms of insurance coverage and even jobs in the future must be thought of as well; if you are positive for a BRCA mutation, there's a chance you may be denied insurance coverage for any breast-related problems (even benign conditions), and some employers may not wish to hire you because of fear of high medical bills in the future, although such discrimination is against the law.

There are several centers throughout the country, usually affiliated with university medical centers, that offer a comprehensive program of counseling and evaluation for families at high risk for breast cancer. You may also wish to call Myriad Genetics (the major commercial company offering BRCA testing) at 1-800-469-7423 for more information.

 

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