What Every Woman Needs to Know About the BRCA-1 and BRCA-2 Mutations

Angelina Jolie Pitt has had a double-mastectomy and laparoscopic bilateral salpingo-oophorectomy in the past two years. Here's why she chose preventative surgery.

October 21, 2015
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In 2013, Angelina Jolie Pitt brought the BRCA-1 and BRCA-2 mutations to our attention. After testing positive for BRCA-1, she opted to publicly reveal her decision to undergo a double-mastectomy in an op/ed piece for the New York Times.

Just two years later, Jolie Pitt wrote about another huge choice: she elected to have her ovaries and fallopian tubes removed, sending her body immediately into menopause.

Both were major decisions. Both deserve to be discussed. We need to talk about what these mutations are and why it all matters.

October is Breast Cancer Awareness Month. In September, we recognized the quiet, yet deadliest gynecologic cancer with Ovarian Cancer Awareness Month. When it comes to cancer, it’s always best to be on the offensive attack—and prevention is your most powerful tactic. Knowing your options is your greatest weapon.

That’s why I was glad to see Angelina Jolie chose to publicize her personal health for better public health. That’s why I think it’s so important to take a look at the BRCA-1 and BRCA-2 mutations, especially if you never really have.

Here’s what absolutely every woman should know about the genes and their implications.

BRCA-1 and BRCA-2 are important genes. These genes produce proteins that suppress tumor growth by helping to fix damaged DNA. Mutations to either of these two genes increase your risk of breast cancer and ovarian cancer. If the proteins produced by the BRCA-1 and BRCA-2 do not function properly, damaged DNA won’t be fixed, and cells are more likely to change again in a way that evolves into cancer.

A BRCA-1 or BRCA-2 mutation increases cancer risk dramatically. A woman’s lifetime risk of developing breast cancer and ovarian cancer is 12 percent and 1.3 percent respectively. If a woman inherits a BRCA-1 mutation? That risk jumps to 55-65 percent for breast cancer and 39 percent for ovarian cancer. If a woman has a BRCA-2 mutation, risk rises to 45 percent and 11-17 percent respectively. This excludes other risk factors that may be present, like family history, which can also bump or slash those odds.

A DNA test can determine if you have a BRCA-1 or BRCA-2 mutation. In order to check your risk, it’s usually just a blood test or a saliva sample, and you should get results back in about four weeks. Consider getting tested if someone else in your family has the BRCA-1 or 2 mutation, you have already had breast cancer and you’re under age 45, a family member under age 50 has had breast cancer, a family member has had ovarian cancer, or you’re of Ashkenazi Jewish descent. For a larger list of who should and shouldn’t be tested, check out Susan G. Komen. And definitely talk to your doc.

If you test positive for either mutation, you can weigh your options. Knowledge is power. If you have a BRCA-1 or 2 mutation, you’ll want to know all your options for cancer prevention. Doctors might recommend more frequent screenings, or monitor your CA-125 levels (a biomarker for ovarian cancer), and can discuss prophylactic (a.k.a. preventative) surgeries like Angelina Jolie’s to reduce your risk of developing breast or ovarian cancer by up to 90 percent in some cases.

A genetic counselor can help you make key decisions. Figuring out whether or not to have a mastectomy or remove your ovaries aren’t exactly easy choices, so genetic counseling can be helpful in breaking down your options. In fact, before you even decide to have a DNA test done for BRCA-1 and BRCA-2, a genetic counselor can help determine if you’re an appropriate candidate to be screened. Because sometimes screening can produce needless worry, and it causes more harm than good.

If you’re at high risk for the mutations, though, and you do opt for the test, it can also help other family members if it comes back positive. First-degree relatives (mom, sister, daughter) carry a roughly 50 percent chance of having the same BRCA-1 or BRCA-2 mutation. So, again, knowledge is power.

And of course, there’s more power in numbers — greater numbers of women knowing their risk for breast cancer and ovarian cancer, and knowing their options to prevent and beat it.

If you don’t know your risk, start here. The amazing breast-and-ovarian-health advocates at Bright Pink have developed the Assess Your Risk tool, which will give you a first look at your odds of developing these cancers.

It’s time to take control, ladies. It can start right this instant.

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