A woman with a history of breast cancer and a family history of pancreatic cancer was diagnosed with Cushing’s disease. She was referred to a genetic counselor who found that the patient had a TP53 variant associated with Li-Fraumeni syndrome (LFS) that had been reclassified from a variant of uncertain significance (VUS) to pathogenic in 2018, nearly 2 years earlier. The patient should have been diagnosed with LFS in 2018, but this information was not conveyed to her or her doctors, so she missed out on appropriate cancer screenings. The case highlights the need for better communication between genetic testing labs, healthcare professionals, and patients, and the need to improve patient understanding of genetic test results beyond well-known cancer risk genes like BRCA1/2.
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