Rare gene mutation can significantly increase breast cancer risk

Mutation can result in cells becoming abnormal, increasing every woman's risk by nearly 13%

Nikki Battiste – CBS News

A lesser-known gene mutation is causing alarm over its ability to significantly increase the risk of breast cancer. 

The gene, PALB2, typically helps repair DNA damage in cells and stops tumour growth. But a mutation can result in cells becoming abnormal, further increasing, by 13% on average, a woman’s risk of getting breast cancer in their lifetime, according to the National Cancer Institute. 

For carriers of the PALB2 mutation with no family history, the risk increases to 33%, according to the New England Journal of Medicine. It’s 58% with a family history. 

Recent genetic testing revealed Dr. Mathilde Crutchfield has the rare mutation. The 48-year-old mother of three faced an excruciating decision: Biannual mammograms and MRIs or a double mastectomy.

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“When it came back positive, I was very surprised,” she said. “You feel a little bit like a ticking time bomb because you know you have the gene and you have to have all these tests done all the time. And every time you have a test on, you’re anxious about it.” 

Her physician, Dr. Elisa Port, said “knowledge is power” in knowing whether you’re a carrier. 

“I tell all of my mutation carriers, the ball is in their court,” said Port, who is the director of the Dubin Breast Center at Mount Sinai Hospital in New York. 

There’s a history of cancer in Crutchfield’s family, which led to her having genetic testing. Inspired by her maternal grandmother and her grandmother’s sister, who both had breast cancer, Crutchfield has chosen to have a double mastectomy. 

“I feel grateful that I know,” she said. “I wish they could have had the same information and same choices that I had.” 

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