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What to Do if Your Genetic Test Results Are Uncertain

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In some cases, your doctor and genetic counselor may not be able to tell for sure whether or not you are at increased risk of cancer, even after genetic testing. You may be told that your results are:

  • Uninformative or indeterminate: If your test and your family members’ test results are negative, but many women in your family younger than age 50 have been affected by breast cancer and/or ovarian cancer at any age, the cancer in your family could be due to an inherited genetic abnormality that has not yet been identified. The same holds true if your results were negative but you were unable to have a family member with cancer tested. In these cases, you still could be high-risk due to another genetic abnormality besides BRCA1, BRCA2, or PALB2.
  • Showing a "variant of unknown significance" (i.e. inconclusive): Sometimes a genetic test finds an unusual change, or "variant," in the genes, but not one that has been clearly associated with increased cancer risk. As more family members are tested, it may become clearer as to whether or not the variant is associated with cancer risk. Or, you may need to keep in touch with your genetic counselor to find out whether more information becomes available about the particular change that was found in your gene. Learn more about variants of unknown significance.

In either case, not getting a definite result from genetic testing could cause you and your family members a great deal of anxiety. You can work with your doctor and genetic counselor to figure out what steps you should take moving forward. You may still be considered high-risk based on family history alone; if so, you might consider following the strategies followed by other high-risk women:

  • Talk to your doctor about when to begin annual mammograms based on family history. Digital or 3D mammography may provide added benefit. Discuss whether screening with additional modalities such as MRI (magnetic resonance imaging) of the breasts could be considered. Consider participating in a clinical trial evaluating newer methods of early detection.
  • If you have a family history of ovarian cancer, discuss your family history and whether ovarian cancer screening should be considered with your gynecologist. Consider participating in a clinical trial evaluating newer methods of early detection.
  • Have a clinical breast exam every 6 months, and examine your breasts monthly.
  • Consider participating in a clinical trial of cancer prevention strategies.
  • Maintain a healthy lifestyle, and follow recommended nutrition and exercise guidelines.
  • Consider discussing preventive (also called prophylactic) surgery with your healthcare provider.

To learn more about breast cancer screening tests, you can visit Breast Cancer Tests: Screening, Diagnosis, and Monitoring. To learn more about preventive surgery, visit our sections on Prophylactic Mastectomy and Prophylactic Ovary Removal.

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