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

“My obstetrician was aware of my mother’s history and never suggested a genetic test,” Ms. Marsh said. “She’s never heard of it. I raised them. The oncologist she sent me to didn’t suggest an operation. “

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

“It changed life,” said Ms. Marsh, who had fallopian tubes removed in April. (She was told that most ovarian cancer occurs in the fallopian tubes first. She plans to have her ovaries removed after menopause.)

She will have breast monitoring with alternating mammograms and breast MRIs every six months. She already had an endoscopic ultrasound to examine her pancreas.

She found a Facebook group, PALB2 Warriors, to be helpful. Having a healthcare background – she was a phlebotomist – she says she looks beyond individual posts, to studies that are placebo-controlled and peer-reviewed to get information. But when it comes to personal testimonials with prophylactic mastectomies and reconstructions, this is invaluable.

“That wasn’t remotely on my radar screen,” she said. “In a way, I feel empowered. But I also have the feeling that I am waiting for the other shoe to fall, that cancer will be inevitable. “

But above all, she is grateful that she knows about PALB2 and the associated risks.

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