A 61-year old Jewish woman with a hematologic malignancy and a family history of breast cancer was referred to genetic counseling. As part of her work-up, the heme-onc had ordered somatic testing of the patient’s blood cancer, which revealed a TP53 variant at a high allele frequency. The oncologist would have expected the malignancy to be more aggressive if the TP53 finding was somatic, and because it was not he suspected that the TP53 was a germline finding and referred the patient for genetic counseling. At the counseling session she also learned that she carried a balanced chromosomal translocation and a germline APC mutation – findings this well-educated patient said she was learning for the first time.

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