Variant or unknown test results
In some instances, testing identifies a gene alteration that hasn't been seen in prior families, and there isn't enough information about the alteration to know whether it causes an increased risk of breast or ovarian cancer. This is known as a variant of uncertain significance.
Learning that you have a genetic variant of unknown significance may lead to:
- Confusion and anxiety about your cancer risk
- Frustration over the lack of useful cancer risk information
- Difficulty making cancer screening, treatment and prevention decisions
Living with test results
Most people would be anxious if given the chance to find out whether their risk of a serious disease was higher than average. In fact, you may decide that you'd rather not know, and just forgo testing altogether. That's a valid choice.
It's also normal to experience sadness, anxiety or even anger if your test results are positive. You might be more likely to experience a more profoundly negative reaction if you didn't expect your results to be positive — for instance if your family history isn't that significant.
However, research shows that, in the long run, most people cope well with the knowledge of an increased cancer risk and don't experience significant distress over the test results.
It's also important to know that the decision to have preventive (prophylactic) surgery if you test positive for the BRCA gene is not urgent, and it's important to take the time to understand all your options. Sometimes it's helpful to seek a second opinion or meet with a breast specialist who can help you weigh the risks and benefits of the available options based on your individual situation.
For many, simply knowing their risk status eases psychological and emotional distress. They can be proactive and establish a plan to deal with their increased risk.
Aug. 24, 2013
- Isaacs C, et al. Genetic testing for hereditary breast and ovarian cancer syndrome. www.uptodate.com/home. Accessed July 24, 2013.
- Handbook: Help me understand genetics. Genetics Home Reference. http://ghr.nlm.nih.gov/handbook/. Accessed July 24, 2013.
- Genetics of breast and ovarian cancer. National Cancer Institute. http://www.cancer.gov/cancertopics/pdq/genetics/breast-and-ovarian/HealthProfessional/page4. Accessed July 24, 2013.
- Raby BA, et al. Genetic counseling and testing. http://www.uptodate.com/home. Accessed July 25, 2013.
- Breast cancer screening. National Cancer Institute. http://www.cancer.gov/cancertopics/pdq/screening/breast/healthprofessional. Accessed July 24, 2013.
- BRCA1 and BRCA2: Cancer risk and genetic testing. National Cancer Institute. http://www.cancer.gov/cancertopics/factsheet/Risk/BRCA. Accessed July 26, 2013.
- Pruthi S (expert opinion). Mayo Clinic, Rochester, Minn. Aug. 5, 2013.