A 24-year-old woman came to see a genetic counselor to discuss her inherited risk for breast cancer. She claimed she had undergone genetic testing at age 16 due to a strong history of breast cancers on her mother’s side of the family and had a pathogenic variant in either the BRCA1 or BRCA2 gene; she couldn’t remember which. The patient could not find a copy of the test report from eight years earlier. She further told the genetic counselor she had recently gone to see her physician because she had worrying symptoms of breast cancer – nipple discharge and persistent pain in one breast and redness and warmth in the other. The mammogram turned out normal but based on her reported genetic and familial cancer risk the doctor was considering bilateral mastectomy and bilateral salpingo-oophorectomy in the future.

Curiously, the patient told the genetic counselor that her mother and her maternal aunt, who both had breast cancer at a young age, had tested negative for the familial pathogenic variant. The genetic counselor and patient made further attempts to locate the genetic test report from her physicians without success. The genetic counselor recommended the woman get tested again using a multi-gene panel, since she wouldn’t be able to counsel the patient appropriately without knowing the specific cancer risk variant she had.

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