Variants of Unknown Significance in Breast Cancer Genetic Testing

Genetic testing for breast cancer is meant to either reassure people that they have no mutations or uncover mutations that increase their breast cancer risk. But sometimes genetic testing uncovers a variant of unknown significance (VUS). A variant of unknown significance means there is a mutation in a gene that researchers haven’t clearly linked to an increase in breast cancer risk.

Your doctor and genetic counselor may offer advice on screening if you test positive for a variant of uncertain or unknown significance. 

Depending on your situation, your doctor may recommend you follow screening guidelines for people in the general population. Still, if breast or ovarian cancer runs in your family, your doctor may recommend additional screening and risk-reducing treatments.

Regardless of your genetic test results, you may still have a high breast cancer risk based on your family history alone. Here are some strategies that people with high breast cancer risk follow:

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  Ask your doctor when you should begin annual mammograms and whether digital or 3D mammography makes sense for you. Discuss whether you should consider screening with breast MRIs.

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  Have a clinical breast exam every six months, and examine your breasts monthly.

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  Let your doctor know if ovarian cancer runs in your family, and ask whether you should be screened for ovarian cancer.

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  Consider discussing risk-reducing surgery with your doctor.

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  Consider participating in a clinical trial that is testing new methods of early detection and cancer prevention strategies.