A doctor told a 59-year-old patient that she may have Von Hippel-Lindau syndrome (VHL) due to a personal history of polyps and family history of gastrointestinal cancers. The patient met with a genetic counselor, who determined the patient did not have any features...
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...
A patient diagnosed with metastatic, poorly differentiated, stage IIIB invasive ductal, triple-negative breast cancer was not given pre- or post-test genetic counseling before undergoing genetic testing. After seeing another surgeon for bilateral mastectomy, the...
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...
A dermatologist’s misdiagnosis of a patient with Lynch syndrome, a type of inherited cancer predisposition syndrome, led to unnecessary colonoscopies and healthcare expenses. The patient had multiple skin tumors, one of which was genetically tested, revealing...