A 24-year-old woman came to see a genetic counselor to discuss her inherited risk for breast cancer. She claimed she had undergone genetic testing at age 16 due to a strong history of breast cancers on her mother’s side of the family and had a pathogenic variant...
Many supposed breast cancer risk genes don’t raise risk, studies find By Marie McCullough for The Philadelphia Inquirer In the quarter century since the watershed discovery of BRCA1 and BRCA2, dozens of other genes have been implicated in hereditary breast cancer. A...
As seen on The Washington Post and Kaiser Health News By Christina Bennett When her gynecologist recommended genetic testing, Mai Tran was reluctant. “I didn’t really want to do it,” recalled Tran, who had just turned 21 and was living in New...
Twenty years ago, a 45-year-old woman with a recent diagnosis of breast cancer went to see a dermatologist, who noted hyperpigmentation of her lips. The dermatologist clinically diagnosed her as having Peutz-Jeghers syndrome (PJS), a rare genetic condition that often...
A woman in her mid-40s without a personal history of cancer came to see a breast surgeon due to her family history of breast cancer and a sister who was “BRCA positive.” The surgeon ordered a large pan-cancer multigene panel, which revealed she had two...
