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 inconclusive: If your test and your family members’ test results are negative, but many young women in your family (younger than age 50) have been affected by breast and/or ovarian cancer, 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 uncertain significance:" 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.

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 beginning annual mammograms at age 25, or 10 years before the earliest age at which a family member was diagnosed — whichever comes first. Digital mammography may provide added benefit. MRI (magnetic resonance imaging) of the breasts performed by experienced centers can also be very useful. Consider participating in a clinical trial evaluating newer methods of early detection.
  • If you have a family history of ovarian cancer, begin annual screening at age 25, including pelvic exams by a gynecologist, annual pelvic ultrasound with an intravaginal probe, and blood tests for a special protein called CA-125. 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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