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Doctor offers advice in wake of Jolie case

May 25, 2013
Meg Alexander - Staff Writer , Fairmont Sentinel

FAIRMONT - BRCA mutations have come into the public eye recently, with Angelina Jolie announcing her decision to undergo a double mastectomy after genetic testing revealed she was at high risk for developing breast and ovarian cancer.

As a result of her announcement, more women are wondering if they should be tested and discussing what they would do if they were to test positive. In Jolie's case, she had a 50 percent chance of developing ovarian cancer and 87 percent chance with breast cancer.

Breast cancer is considered a common disease in the general female population, but the vast majority of breast cancers - 90-95 percent - are not due to BRCA gene mutations.

"The numbers that Miss Jolie put out are the most scary numbers, so to say," said Dr. Stephan Thome, an oncologist and hematologist with Mayo Clinic Health System.

"Clearly she's a famous celebrity with her roles in Hollywood and her charity work ... that she is willing to share her personal decision makes it easier for other patients to consider that and even talk about it," Thome said. "I think that's a helpful contribution. There's a lot of hurdles to overcome psychologically and socially before people are willing to do this work and this testing, so to have someone step forth like Miss Jolie is very empowering."

Genetic testing is considered not necessary for all women diagnosed with breast cancer or the general public. Instead, Mayo recommends patients with a strong family history of breast and ovarian cancer take note of how many family members have been affected and how old those family members were when the diagnoses were made. The younger the diagnosis, the more likely genetic testing will be beneficial.

"Usually it's something that once a patient figures it out, the rest of the family wants to know," Thome said.

He had one patient who tested positive for the gene, which resulted in 30 other family members discovering they also carried the mutation.

"These things can start with one case and go multi-generations and cross-generations," he said.

People of Ashkenazi Jewish ancestry are at a higher risk of BRCA genetic mutations than the general population. Asians are less likely to carry the mutation than caucasians, while Hispanics are at a slightly higher risk, according to Thome.

"It's stirring up a lot of conversations, like where was grandma from?" he said.

For anyone who doesn't know their family history, if they were adopted or in foster care, or they come from a small family, a physician and genetics counselor can submit a request to a patient's health insurance company.

The test for the genetic mutation is a simple blood draw, but deciphering the results is far more complicated and a certified genetics counselor should be consulted, which typically means a trip to Rochester, for anyone from the Fairmont area.

"The test can be completely normal but you can still have a positive family history. We can't test all genes at this time," Thome cautioned.

Genetic testing is a preventative measure, and patients who test positively for the mutation can choose to undergo annual mammography and MRI screenings, or prophylactic surgery to have the breasts and/or ovaries removed.

"We don't want to cause a panic, but awareness is a good thing," Thome said.

 
 

 

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