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Monday, October 23, 2017

The BRCA2 Male Minority

The 2017 Moment Genetics Guide

The BRCA2 Male Minority

The 2017 Moment Genetics Guide
September 14, 2017 in 2017 September/October, Jewish World
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Matt Diamond is a 39-year-old financial planner whose sister happens to be an amateur genealogist. After creating a family tree for a school homework assignment, she was hooked and spent the next 25 years digging into her family’s Ashkenazi roots. In 2014, she sent a saliva sample to a genetic testing company, hoping to find more family members through their DNA database. She was shocked when the test identified her as a carrier for the BRCA2 mutation, a fact later confirmed by her medical doctor.

Following his sister’s diagnosis, Matt was tested and found that he, too, carried a mutation of the BRCA2 gene. Although Matt is cancer free, this has placed him in a category that often caters to women’s needs and concerns. “It’s always interesting when I walk into the breast center at Sloan Kettering as a patient,” Matt says. “I would say I’m pretty much the minority there.” Less than 1 percent of the male population will develop breast cancer, but that statistic rises to 6 percent among men who carry the BRCA2 mutation, according to the National Institutes of Health. But Matt doesn’t mind being in the minority. “I’ve taken the approach that there’s no reason to be ashamed that I’m going to get a mammogram,” he says. “I’m doing what is best for me and my family in the long run. It would be irresponsible not to.”

In fact, some argue, men need to be hyper-vigilant when it comes to testing and monitoring for cancers. “If you’re BRCA positive and you’re a woman, you can take prophylactic steps. There’s not really anything like that for a man,” he says. Matt is enrolled in a study at the Memorial Sloan Kettering Cancer Center where he sees multiple doctors every six months as a precaution. He is most concerned about pancreatic cancer because tumors can grow in the pancreas initially without any symptoms—meaning they often advance significantly before they are detected, making them difficult to treat. “I want to ensure that I catch it well before I normally would have so that it doesn’t advance to the stage where it could be worse.”

A genetic counselor advised him and his wife not to worry about testing their three daughters, ages 8 to 14, for the mutation until they are at least 18. “The fact that, statistically, at least one of my girls will be carrying this gene is something that does worry me in the long term,” he says.

When asked whether or not he would suggest that others undergo testing for the BRCA mutation, he says yes, but then he hesitates, adding that there’s a psychological impact that comes along with testing positive. “If you do get notification that you have the BRCA gene mutation, it’s something that will sit on you,” he says. For now he goes about his daily routine without letting the anxiety weigh on him. His best scenario for the future? “I’ll continue to just be wasting my time and money visiting these doctors with no negative results.”

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