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Tuesday, October 26, 2021

This Breast Cancer Gene Is Less Well Known, but Nearly as Dangerous

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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. She said her own doctor was unaware of the gene.

“My OB-GYN was aware of my mom’s history and never suggested genetic testing,” Ms. Marsh said. “She never heard of it. I educated her. The oncologist she sent me to did not suggest surgery.”

But Seattle Cancer Care Alliance, a partner of Fred Hutchinson Cancer Research Center, where Ms. Marsh’s mother had been an oncology nurse, did know about the gene mutation. The group immediately put together a team that included a surgical oncologist, a pancreatic cancer specialist, a geneticist, a nutritionist and a social worker.

“This has been life-changing,” said Ms. Marsh, who had her fallopian tubes removed in April. (She was told most ovarian cancer first occurs in the tubes. She plans to remove her ovaries after menopause.)

She will have breast monitoring with alternating mammograms and breast M.R.I.s every six months. She has already had an endoscopic ultrasound to look at her pancreas.

She has found a Facebook group, PALB2 Warriors, to be helpful. Because she has a background in health care — she was a phlebotomist — she says she looks further than individual postings, to studies that are placebo-controlled and peer-reviewed for information. But when it comes to personal stories of experience with prophylactic mastectomies and reconstruction, she says that is invaluable.

“This was not remotely on my radar screen,” she said. “In one sense I feel empowered. But I also feel like I am waiting for the other shoe to drop, that cancer will be inevitable.”

But mostly, she is thankful that she knows about PALB2 and the risks involved.

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



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