Genetic mutation prompts Spokane resident to undergo double mastectomy

SPOKANE, Wash. - Spokane resident Cathy Santangelo would never have guessed she had something in common with Angelina Jolie until Tuesday, when she found out the actress recently underwent a double mastectomy after learning she carries a genetic mutation that dramatically increases her risk of breast and ovarian cancer.

The decision to get a double mastectomy is a decision many women make, but not one they make lightly.

The important thing to know about this gene is that it's rare. Genetic mutations only account for about 5 to 10 percent of all breast and ovarian cancers. But for the people who fall in that group, knowing you carry the genetic mutation is life-changing and what to do next can be both terrifying and empowering.

"I got my test result back pretty quickly and found out I was positive for the BRCA 1 gene mutation," Cathy Santangelo said.

Breast cancer gene

That mutation, handed down from her mom, dramatically increases her risk of breast cancer.

Imagine you're healthy, in your mid-30's, a wife and mom to three young kids and you've already watched her mom face breast cancer twice. Santangelo could have chosen advanced screening, a mammogram every six months and a lifetime carrying the weight of those odds. Instead, she decided to remove both breasts and remove the risk altogether.

"It really made sense to do the preventative mastectomies and hopefully not have to worry about it anymore," she said.

"There's a risk of doing surgery to a healthy piece of tissue. The risk is small compared to an 80 percent risk of breast cancer," Dr. Stephanie Moline, a breast surgeon at Cancer Care Northwest, said.

Dr. Moline said that those genetic mutations only account for 5 to 10 percent of breast cancer cases and deciding to remove healthy breasts is not right for everyone.

"We counsel about the risk and do a lot of talking to find out where she is. It's not a decision that can be applied as a blanket to every situation. It's very individual," she said.

Cathy, for one, doesn't regret it for a second. Seven weeks post-surgery, she looks and feels great and has the energy to keep up with her daughter Stella and her brothers. She's proud of her choice and the decision to save her own life.

"I hope moving forward from here, we'll just continue to have a normal life and I can do the things I was doing before," she said.

Breast cancer is not the only elevated risk that comes with this genetic mutation; ovarian cancer risk is elevated as well and that can be more dangerous. That's why Cathy is now considering her next option, removal of her ovaries and fallopian tubes.

Cancer Care Northwest recommends patients diagnosed with breast cancer under the age of 50 or people who have a parent who was diagnosed with breast cancer at a young age get tested. Men can carry this mutation, too, so that's a good reason why knowing your family history is important.