A woman in her mid-40s without a personal history of cancer came to see a breast surgeon due to her family history of breast cancer and a sister who was “BRCA positive.” The surgeon ordered a large pan-cancer multigene panel, which revealed she had two variants of uncertain significance (VUS), one in BRCA2 and one in APC. The breast surgeon recommended risk-reducing mastectomy and salpingo-oophorectomy and scheduled her to consult with a plastic surgeon at the same institution.
Before going ahead with the recommended surgeries, the patient wanted a second opinion with a breast surgeon at a different institution. She also told this surgeon that she was “BRCA positive.” Similar to the first, this second surgeon said that if she had indeed inherited a pathogenic variant in BRCA1 or BRCA2, genes associated with increased risk for breast, ovarian, and other cancers, then according to guidelines, risk-reducing surgeries to remove her breasts or high-risk breast screening, as well as risk-reducing surgery to remove her ovaries and fallopian tubes would be appropriate. Except, unlike the first surgeon, this second surgeon did not want to act without reviewing the patient’s genetic test results from the outside lab. The surgeon requested the results and referred the patient to a genetic counselor.
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