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Local woman, expert talk about cancer risk prevention

Is BRCA mutation testing right for everyone?

A Colorado Springs woman shares her story of cancer prevention, following Angelina Jolie's announcement that she had a double mastectomy.

Marjorie Noleen said she had a double mastectomy and a hysterectomy to reduce her risk of cancer.

"It was scary for sure," she said. "It was a hard decision. I don't regret it, but I'm also on the other side of it."

Her decision came after she tested positive for a mutation in the BRCA gene. According to Dr. Toni Green-Cheatwood, a breast surgeon at Penrose St. Francis Hospital, a person with this mutation is at about a 70 percent risk of having breast cancer during her lifetime.

"Every person has this gene as part of their natural genetic makeup," she said. "What we're worried about in the cancer risk is whether you have a mutation of this gene."

To test for the mutation, doctors perform a genetic test through a mouth swab or blood test. The results will reveal one of three answers.

"You'll either get a no, you do not have a mutation of the gene; a yes, you have a mutation that we know is in the group of concern that causes cancer; and there's another group that's called unknown significance, meaning we haven't quite identified what does mutations mean," Green-Cheatwood said.

The test doesn't give a specific risk assessment. In order to determine that, experts asses a number of additional factors like family history or an abnormality in a mammogram.

Green-Cheatwood said if certain factors make someone believe they're at risk of cancer, genetic testing for a BRCA gene mutation shouldn't be the first step.

"I recommend a genetic evaluation prior to undergoing the test," she said. "I don't think it's a good idea just to have the test done because a lot of times we'll see they have a family member with breast cancer. That doesn't mean that that gene mutation is the only one that we should be concerned about."

Noleen went to a genetic counselor before undergoing her test. It was just one of the many steps she took to try to avoid cancer. She said now she can put the process behind her, not only for her own benefit, but for her children too.

"Down the road, they don't have to see mommy go through a number of things that my family's had to go through," she said.  "That is just kind of what a mom does, I feel."

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