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Genetic Test Results Can Offer Peace of Mind

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Knowledge is a powerful tool that can help any woman deal with a scary health situation. Research shows that women at high risk for breast cancer who had genetic testing benefited psychologically from knowing the results of the testing.

You and your doctor may consider genetic counseling and genetic testing if you have a higher-than-average risk of breast cancer because of:

  • a strong family history of breast or ovarian cancer
  • a family member who has an abnormal breast cancer gene
  • a personal history of breast or ovarian cancer

Most inherited cases of breast cancer are associated with two abnormal genes: BRCA1 (BReast CAncer gene 1) and BRCA2 (BReast CAncer gene 2). Women with an abnormal BRCA1 or BRCA2 gene have up to an 85% risk of developing breast cancer by age 70. Their risk of ovarian cancer is also increased. Abnormal BRCA1 and BRCA2 genes are found in 5% to 10% of all breast cancer cases in the United States. Doctors believe that there are likely to be a number of gene abnormalities other than BRCA1 and BRCA2 that eventually will be linked to increased breast cancer risk. Testing for abnormal genes other than BRCA1 and BRCA2 isn't routinely available. Researchers are working hard to identify these other abnormal genes and understand how the information can help make screening even more effective.

This small study looked at 215 women who had genetic testing for abnormal BRCA1 or BRCA2 genes because of family or personal medical history. The researchers asked the women how distressed and worried they were about breast cancer risk, both before the women had genetic testing and during each of the 4 years after the test. The researchers found that after learning their test results and other information relayed during genetic counseling, the women were less distressed and worried about breast cancer risk compared to how they felt before testing and counseling. But after testing, each woman's level of worry about risk depended on her individual results and circumstances.

  • 31 women had test results that showed they didn't have an abnormal breast cancer gene. These women, labeled "true negative results," had the biggest decrease in worry after testing.
  • 37 women had test results that showed they had an abnormal breast cancer gene. Still, these women had a lower level of worry after testing but their relief wasn't as large as the women with true negative results.
  • 147 women had inconclusive test results. This means that while they tested negative for an abnormal BRCA1 or BRCA2 gene, their family or personal history suggests that they may have another undetected abnormal gene that may raise their risk of breast cancer. These women also had less worry after testing, but their relief wasn't as large as the women with true negative results.

A recommendation for breast cancer genetic testing may be scary for some women. Still, this research shows that knowing your test results is empowering. No matter the results, all the women in this study were less worried after learning their genetic test results. Genetic testing should be done in collaboration with your doctor and a genetic counselor. Together, these professionals can help you understand your situation, your risks, and the results of your test. They also can help you create a breast cancer screening plan that's best for you and offer guidance on how to keep your breast cancer risk as low as it can be.

Visit the Breast Cancer Risk Factors: Genetics page to learn more about breast cancer genes and testing.

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