Founders featured in NBC news interview about BRCA

By Kay Quinn Healthbeat Reporter

ST. LOUIS (KSDK) - Women everywhere learned more about breast cancer when actress Angelina Jolie revealed she has a gene mutation that raises her risk of the disease. 

But it turns out, women aren't the only ones who need to be aware. 

A local man learned he has the mutation, and the discovery changed his life. 

"It was just a real surprise," said Josh Harpole. 

That could be said about many things in Josh Harpole's life lately. But in this case, he's talking about his mother, Theresa's, initial breast cancer diagnosis. 

It was in 2006, and it was the lowest grade: a stage zero. She was just 39. 

"I was really relieved that I caught it early and I did a double mastectomy," said Theresa Harpole. 

A genetic test at the time showed she had one of the so-called BRCA gene mutations. Women with the faulty gene have a three to seven times greater risk of developing breast cancer and also have a higher risk of ovarian cancer. Theresa urged her sisters to get tested, but life pretty much returned to normal. 

Then, during a vacation to Lake of the Ozarks four years later, another surprise. 

"She was like, 'I have this weird bump on my neck, what is this?'" recalled Josh. 

That's when Theresa got another diagnosis: stage four breast cancer that spread to the bones. 

"It was just a complete shock to the system," said Josh. 

One of her first requests: Theresa asked Josh to be tested for the mutation. Children whose mothers have the mutation have a 50 percent risk of inheriting the mutation themselves. 

"It was kind of one of those things, once she got re-diagnosed and wanted me to do something I wasn't going to tell her no," said Josh.

"Once we detect a mutation we want to test everyone in that family and find out who's carrying that and who's not," said Dr. Michael Naughton, an oncologist at Washington University School of Medicine. 

And that includes the males. 

"Both the men are surprised and sometimes the women are surprised that we recommend testing their male relatives and the issue is it's not a sex-linked gene so it can be in men and women," said Dr. Naughton. "Men can pass it on to their daughters women can pass it on to their sons." 

Josh's test came back positive. 

"I pretty much knew I had the gene it just kind of made sense," said Josh. "I don't know, we're really close and it was just like o.k. It was a real shock." 

So while women who test positive for the BRCA gene mutation can have a preventive mastectomy to cut their chances for getting breast cancer, there's really no recommended treatment for men. 

Josh has been told to do frequent breast self exams and he also runs a higher risk for prostate cancer. 

"It was very upsetting to find he'd have to deal with this for the rest of his life," said Theresa. 

But Josh has turned his positive test for the BRCA gene into a positive. He's started a foundation in his mother's name to raise money for breast cancer research, is making a healthy diet and exercise a priority, and is relieved about a recent Supreme Court ruling that should give patients better access to genetic testing. 

"The percentage is so much lower but it does happen and as a guy it's just like o.k. I think it does bring me closer to my mom in that situation and it helps me relate to the situation a little bit," said Josh. 

You can find out more about the Theresa Harpole Foundation for Metastatic Breast Cancer by visiting their website.