What happened?

A 49-year-old woman with a maternal family history of breast cancer was seen in a high-risk breast clinic. Both her mother and grandmother had breast cancer at an early age. Because her mother had reportedly declined genetic testing, the woman’s Ob/Gyn had ordered testing the prior year and told her she was negative. The nurse practitioner at the high-risk breast clinic wanted to review the test results and requested a copy, only to learn that this woman did not have a “negative” test report. In fact, she had undergone testing on a multi-gene pan-cancer panel in 2018, which detected a pathogenic variant in one copy of the MUTYH gene.

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