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...
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...
A 20-year-old man came in to see a surgeon and get genetic testing based on a history of breast cancer and a pathogenic BRCA2 variant in the family. The man’s mother, who accompanied him to see the surgeon, had been diagnosed with breast cancer in her late 20s...
A 42-year-old woman underwent a breast biopsy due to an abnormal mammogram. Even though the biopsy analysis yielded benign findings, the woman’s family history with pancreatic cancer prompted the surgeon to order a 70-gene panel test to assess if she had...
A gynecologist ordered genetic testing for a 16-year-old girl with an unspecified breast finding and a limited family history of cancer. Genetic testing detected a variant of unknown significance (VUS) in BRCA2. Since this patient had this breast finding, a...
