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Saturday, May 18, 2013

6 things you need to know about BRCA mutations

Angelina Jolie BRCA

(Photo: Paknewspage.com)

BRCA mutations are having a moment, thanks to Angelina Jolie’s public announcement of both her BRCA1 positive status and her decision to undergo a preventative mastectomy in the New York Times this week.

And while disease awareness is super important, celeb buzz can also lead to hype and misinterpretation.

“I just think that what people have to keep in mind was that this was her decision, a decision she made as a gene mutation carrier, and it appears she made it very thoughtfully. This may not be the right decision for every woman, even for another woman who has the mutation,” says Dr. Kathie-Ann Joseph—a top breast surgeon at NYU Langone Medical Center and an expert on BRCA mutations and prophylactic surgery.

To help you understand how she came to that decision, we asked Dr. Joseph to break down the basics of BRCA mutations. Here are the top six things you need to know.

1. What the heck are they? BRCA1 and BRCA2 are “tumor suppressor” genes, meaning they help prevent uncontrolled cell growth. Every person’s DNA includes two copies of each of the genes. In people with a mutation, one of those copies is “broken” leaving the body more susceptible to tumor growth.

Dr. Kathie-Ann Joseph

Dr. Kathie-Ann Joseph with Oprah.

2. Where do they come from? The mutations are passed on from generation to generation, from either parent to their children. But since each person has two copies of each gene, there’s only a 50 percent chance a parent with a mutation will pass it on. If you don’t inherit it, your cancer risk will be similar to that of the general population.

3. I have cancer in my family! We must have it, right? No, no, and no. BRCA mutations are found in an estimated .1 to .2 percent of the general population, meaning they’re exceedingly rare. And most sources estimate that just 5–10 percent of breast cancer cases are due to BRCA mutations. In other words, 90–95 percent of breast cancer cases do not involve BRCA mutations.

4. If I have a BRCA mutation, what’s my cancer risk? Women in the general population have about a 12 percent lifetime risk of breast cancer, and Dr. Joseph estimates about an 80 percent lifetime risk for BRCA mutation carriers (that number ranges between 60 and 90, depending on the source). Women with BRCA mutations also tend to get diagnosed at young ages, get more aggressive cancers, and have higher mortality rates. Estimated lifetime ovarian cancer risk ranges from 10 to 60 percent, as opposed to 1.4 percent in the general population. The risk of other cancers, like pancreatic, is also slightly elevated. Men with BRCA mutations have an elevated risk of prostate, breast, and pancreatic cancer.

5. How do I get tested? “You have to think about it differently than getting your blood sugar or cholesterol checked,” Dr. Joseph says. “I’m not discouraging it, but before they even get tested, I caution patients, ‘What are you going to do with the information?” Your physician may suggest you get the test if you meet certain risk factors, and then send you to a genetic counselor, who will delve into your family history and counsel you on the risks and options. Myriad Genetics is the only company that manufactures the test, and it currently costs $3,000. Insurance companies cover the test only if you meet specific family history criteria—your physician noticing nuances in your chart won’t cut it, Dr. Joseph says.

6. What are the options if I have it? Women who have the mutation can choose from several options to manage their risk. Having their breasts and ovaries removed, like Angelina, is one. Others include intensive screening via mammograms, sonograms, and MRIs, preventative chemo drugs, and lifestyle changes, like avoiding further risk factors like alcohol. “I‘m sure Angelina took a lot of time making those decisions, and that’s what I tell my patients to do,” Dr. Joseph says. “I can’t tell you if you should do it, you’re the one who has to live with that decision.” —Lisa Elaine Held

For more information, visit www.facingourrisk.org or www.bebrightpink.org

MORE READING Well+Good’s senior staff writer, Lisa Elaine Held, is also a BRCA mutation carrier. Here, she offers her thoughts on Angelina Jolie’s famed editorial.

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