BRCA gene impacts both men and women
A genetic link to breast cancer impacts both men and women. It's the same genetic risk Angelina Jolie faced. What many don't consider is that men can also carry the gene too, and if they are positive, they are at higher of getting cancers.
"It was just a real surprise."
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: stage zero. She was just 39.
"I was really relieved that I caught it early and I did a bilateral mastectomy," she said.
A genetic test at the time showed she had one of the so-called BRCA genes. 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. Four years later, another surprise.
"She was like, I have this weird bump on my neck. What is this?" said 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 her son Josh to be tested for the gene. Children whose mothers have a 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 she 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.
That includes the men in the family.
"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. Men can pass it on to their daughters, women can pass it on to their sons," said Dr. Naughton.
Josh's test came back positive.
"I pretty much knew I had the gene it just kind of made sense. I don't know, we're really close and it was just like okay. It was a real shock," he said.
"It was, you know, very upsetting to find that 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...okay. 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.