My Gene Counsel Quoted in The Philadelphia Inquirer

My Gene Counsel Quoted in The Philadelphia Inquirer

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...

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Peutz-Jeghers Misdiagnosis Causes Medical, Family Confusion

Peutz-Jeghers Misdiagnosis Causes Medical, Family Confusion

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...

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Woman Without High Breast Cancer Risk Recommended Surgery

Woman Without High Breast Cancer Risk Recommended Surgery

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 variants of...

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Is the COVID-19 Vaccine Safe?

Is the COVID-19 Vaccine Safe?

On Friday, December 12, 2020, the United States Food and Drug Administration issued its first Emergency Use Authorization for a COVID-19 vaccine. The FDA's approval of this vaccine, developed by Pfizer, followed recent approvals of the same vaccine by the UK, Canada,...

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BRCA2-Positive Healthy Young Man Recommended Mastectomy

BRCA2-Positive Healthy Young Man Recommended Mastectomy

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 and had...

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