A primary care doctor referred a 39-year-old Ashkenazi Jewish woman for genetic counseling because of a known familial BRCA2 variant. The patient was also undergoing egg retrieval for in vitro fertilization and had told her doctor she would consider pre-implantation genetic testing of the resulting embryos if she had a high genetic risk for cancer. The GC offered a broad hereditary cancer syndrome panel due to the patient’s family history, ancestry, and reproductive planning. Her unexpected results revealed the patient did not have the familial BRCA2 mutation, but instead she harbored an MSH6 founder mutation.
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