This Breast Cancer Gene Is Less Known, But Almost Dangerous


Heidi Marsh, 46, of Seattle, tested positive for the PALB2 mutation after her mother, a breast cancer and pancreatic cancer patient, was found to have it. He said his own doctor was unaware of the gene.

“My OB-GYN was aware of my mother’s history and never recommended genetic testing,” said Ms. Marsh. “He never heard of it. I trained him. The oncologist he sent me didn’t recommend surgery.”

However, the Seattle Cancer Care Alliance, a partner at the Fred Hutchinson Cancer Research Center, where Ms. Marsh’s mother is an oncology nurse, knew about the gene mutation. The group immediately assembled a team of a surgical oncologist, a pancreatic cancer specialist, a geneticist, a nutritionist, and a social worker.

“This is life changing,” said Ms. Marsh, who had her fallopian tubes removed in April. (I’ve been told that most ovarian cancer first occurs in the tubes. After menopause, she plans to have her ovaries removed.)

There will be breast monitoring with mammograms and breast MRIs changing every six months. She’s already had an endoscopic ultrasound to look at her pancreas.

Found a Facebook group, PALB2 Warriors, to help. Because she has a background in healthcare—she was a phlebotomist—she says she looks at more than individual submissions, placebo-controlled, and peer-reviewed reviews for information. But when it comes to personal experience stories with prophylactic mastectomy and reconstruction, she says it’s invaluable.

“This was not remotely on my radar screen,” he said. “In a way, I feel powerful. But I also feel like I’m waiting for the other shoe to fall, for cancer to be inevitable.”

But mostly he is grateful for knowing about PALB2 and the risks involved.

“It’s an alarm clock and a wake-up call,” he said. “You can do something about it if you want.”



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