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Breast Cancer and Genetic Testing

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How Do I Interpret the Genetic Test Results?

A negative genetic test means that a breast cancer gene mutation was not identified. If genetic testing has previously identified a mutation in your family, then a negative test means you do not carry the specific mutation that was identified in your family. Therefore, your risk of developing cancer is the same as someone in the general population who has a family history of breast cancer. If a BRCA1 or BRCA2 mutation has not been previously found in your family, a negative result should be interpreted cautiously. In such cases, there is still a chance that you may be at increased risk for breast cancer due to potential mutations in genes other than those that currently can be tested for.

A positive test result means that a mutation known to increase the risk of breast and ovarian cancer was identified. Knowing your cancer risk may help guide important health care decisions for you and your family.

Should I Be Tested for Genetic Mutations?

You may want to discuss genetic testing with your doctor if any of the following scenarios apply to you:

  • You have two or more blood relatives -- mother, sister, aunt, cousin, or daughter -- with premenopausal breast cancer or ovarian cancer diagnosed at any age.
  • You have been diagnosed with breast cancer, especially if it was diagnosed before you reached menopause, you have a blood relative with breast or ovarian cancer, or if you have cancer in both breasts.
  • You have been diagnosed with ovarian cancer and you have blood relatives who have had ovarian or breast cancer.
  • You are related to someone (male or female) who has a BRCA1 or BRCA2 mutation.
  • You are of Ashkenazi Jewish descent and you have blood relatives who have had breast or ovarian cancer, or you have had breast or ovarian cancer.

 

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