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...
A 35-year-old man sought out genetic counseling because his mother had a pathogenic variant in MSH6. The patient’s family history also revealed a paternal relative with pancreatic cancer which, in addition to his Ashkenazi Jewish ancestry, prompted the GC to...
Pancreatic cancer is relatively uncommon, with a lifetime risk of ~1.5% for individuals in the United States. For the majority of pancreatic cancers, the cause is unknown and there is no known family history of the disease. In these circumstances, a cancer is...
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...
Last Updated June 15, 2022 True or false? Men don’t need genetic testing since only women can have a hereditary risk to develop cancer. Answer: FALSE. The notion that men cannot have hereditary cancer mutations that put them at increased risk to develop cancer is just...
