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Genetic testing and treating breast cancer

​Angelina Jolie is widely known for her star power on the big screen.

But since revealing that she underwent a double mastectomy because she had a gene mutation that greatly increased her odds of developing breast cancer, Jolie's legacy will include much more. Her decision has invigorated conversations between women and their doctors about how best to prevent the disease.

Choosing to have a double mastectomy shouldn't be done without first having substantial information and reason, according to Marshfield Clinic breast cancer surgeons and genetic specialists. Having key risk factors shape the conversation.

"When you're diagnosed with breast cancer, we look for some red flags that indicate the possibility of a genetic connection," said General Surgeon Caesar Gonzaga, M.D., Marshfield Clinic Eau Claire Center.

Red flags can include a family history of breast cancer, such as a mother, aunt or any family member under age 50 diagnosed with the disease.

"If those indicators are significant, genetic testing of the patient is recommended before moving ahead with a surgical treatment approach," Dr. Gonzaga said.

Two genes, BRCA1 and BRCA2, if found with genetic testing to have a genetic mutation, indicate a significantly higher risk for breast cancer.

"Both are genes we all have," said Lynn Schema​, a genetic counselor at Marshfield Clinic Eau Claire and Marshfield Centers. "They're important for cell division and growth. When there's a mutation in one of those genes, it increases the risk for out-of-control cell growth that can lead to breast cancer."

Genetic counseling is recommended to fully understand the implications of test results.

"A positive test for a mutation in the BRCA1 or BRCA2 genes also indicates a significantly increased risk for ovarian cancer," Schema said. "It can be difficult to think about other family members being at risk because you have this gene mutation. Surgery is one option of several to reduce the risk for you. We want patients to make an informed choice as to how best to proceed."

With breast cancer, there is a screening mechanism. Unfortunately for ovarian cancer, the screening is not as good at finding cancer at an early and more treatable stage.

"A yearly mammogram with periodic magnetic resonance imaging can be effective for monitoring," said Timothy Pitchford, M.D., a general surgeon at Marshfield Clinic Eau Claire Center. "After a woman is done having children, undergoing a bilateral mastectomy, hysterectomy and oophorectomy can reduce the risk for both ovarian and breast cancer, because the risk for either cancer is greater with the BRCA gene mutations."

The Jolie effect has produced more inquiries about double mastectomy after breast cancer diagnosis, Dr. Pitchford said. "You need to be mindful of the recovery time, which is about a month with breast reconstruction. Insurance coverage is determined based on the risk of not doing the surgery being demonstrated. Lumpectomy or single mastectomy also are still good approaches for many patients."

No breast surgery is 100 percent fool proof in preventing breast cancer. "But for a patient with the proven genetic connection, having both breasts removed very significantly reduces the risk of having breast cancer over her lifetime," Dr. Gonzaga said.