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...
A woman experiencing joint and mobility issues turned to holistic medicine after feeling that her regular doctors weren’t adequately addressing her health problems. In recounting her health history to a new doctor, she also shared that she was concerned about...
A woman’s physician ordered multi-gene panel testing due to her family history of cancer and told her that the lab had found two “errors” in the PALB2 gene. Compared to the general population, patients with a pathogenic variant in PALB2 have between...
An oncologist referred an endometrial cancer patient to a genetic counselor because she was diagnosed at a young age – before age 50. The patient had already undergone surgical treatment before the oncologist referred her to a genetic counselor. After taking a...
