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Santa Monica Breast Center

Patient Education: Genetic Testing

What is genetic testing and how does it relate to me?

Understanding your genetic predisposition to breast cancer can help you and your healthcare provider make more informed decisions about your health.

Whether or not you have already been diagnosed with breast cancer, this test might have important implications for you. Women who carry a BRCA mutation and know about it can start cancer screening at an earlier age, take risk-reducing medication, or elect to undergo preventive surgery.

Here’s what you need to know:

The test for the genetic mutation, called BRCA, is a simple blood test, but it’s not for everyone. It’s not always covered by insurance, so you should know whether you’re one of the 2 percent of women who have a family history that makes them more likely to have the BRCA mutation.

What family history may make a person more likely to have the BRCA gene mutation and therefore may want to consider undergoing BRCA testing:

  • For women who are not of Ashkenazi Jewish descent:
    • Two first-degree relatives (mother, daughter or sister) diagnosed with breast cancer, one of whom was diagnosed at age 50 or younger
    • Three or more first-degree or second-degree (grandmother or aunt) relatives diagnosed with breast cancer regardless of their age at diagnosis
    • A combination of first- and second-degree relatives diagnosed with breast cancer and ovarian cancer (one cancer type per person)
    • A first-degree relative with cancer diagnosed in both breasts (bilateral breast cancer)
    • A combination of two or more first- or second-degree relatives diagnosed with ovarian cancer regardless of age at diagnosis
    • A first- or second-degree relative diagnosed with both breast and ovarian cancer regardless of age at diagnosis
    • Breast cancer diagnosed in a male relative
  • For women of Ashkenazi Jewish descent:
    • Any first-degree relative diagnosed with breast or ovarian cancer
    • Two second-degree relatives on the same side of the family diagnosed with breast or ovarian cancer.

In all, between 0.125 and 0.25 percent of women will test positive for the BRCA mutation. These women have an increased risk of getting breast cancer and ovarian cancer.

If you do test positive for BRCA, you have different options.

  • Some women choose not to have surgery. Instead, they increase cancer surveillance with imaging tests. These include regular mammography and breast MRI to test for breast cancer, and regular pelvic sonograms and blood-tests to watch for ovarian cancer. It is important to note that increased screenings do not reduce risk, but potentially improves early detection of cancer should it occur.
  • Other options include medications to reduce cancer risk.

The decision to surgically remove your breasts to reduce the risk of developing breast cancer is a highly personal one. Detailed discussions with your surgical oncologist, plastic surgeon, and genetic counselors are important steps in considering whether and when a prophylactic mastectomy is right for you.

While studies have shown a significant risk reduction and likely survival benefit in women with a BRCA mutation who undergo preventive surgery, their risk does not drop to zero. There is still a low chance of developing breast cancer in the chest wall, and ovarian cancer in the pelvic cavity.

While the information presented here represents the medical tip of the iceberg, the hope is that it can begin the process of informing, educating and empowering both women and men about this kind of genetic mutation and cancer risk.

Please feel free to contact the UCLA Santa Monica Breast Center at (424) 259-8791 if you have additional questions.

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