A 46-year-old woman who claimed to have pathogenic variants in both BRCA1 and BRCA2 genes and a strong family history of breast cancer came to a surgeon seeking risk-reducing mastectomies. Although this woman did not have breast cancer, based on her account of her genetic and familial risk factors, the surgeon scheduled the patient for preventive surgery and referred her to a breast specialist to further discuss her future cancer risk, screening, and care options.

The breast specialist, who was at the same medical facility as the surgeon, reviewed the patient’s genetic test results that were scanned into the electronic medical records. The specialist noted that the patient had been tested by a commercial lab on a multi-gene next-generation sequencing panel, which did not identify any pathogenic variants in BRCA1 or BRCA2. The test report also provided a polygenic breast cancer risk score of 34.2, though given such scores are still new risk assessment tools in the field and require further validation, this particular healthcare facility does heavily rely on them in patient management.

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