High anxiety: What if you think you might have the 'cancer gene'?

Angelina Jolie has done wonders for raising awareness about the so-called “breast cancer gene”—the infamous BRCA1 mutation that can greatly boost a woman’s risk of breast, ovarian, and other cancers.

But with that awareness can come increased anxiety. I am one of the many women in this country who fear they could be a carrier. I recently had my DNA tested through the biotech company 23andMe, and a third-party analysis revealed that I might have harmful mutations on my BRCA1 gene, which might raise my cancer risk. My mother was adopted, so I lack a complete picture of my family’s medical history. What do I do with this information?

I am an unmarried 29-year-old woman, and concerns about the mutation have sent my mind racing from How do I get tested? to Can I have children? So I set out to educate myself. Here’s what I learned about the genes, testing, and treatment—which I hope will serve as a roadmap for other women who wonder.

What are BRCA1 and BRCA2?

First things first: BRCA1 and BRCA2 are genes found in everyone (yes, everyone) that help to repair damaged DNA. As several studies have shown, certain inherited mutations of these genes in women can lead to breast, ovarian, and other cancers. These harmful mutations combined account for 20 to 25 percent of hereditary breast cancer and 15 percent of ovarian cancers overall, according to the National Cancer Institute.

Of course, not every woman who tests positive for harmful mutations will get cancer—but one’s odds are significantly increased. Fifty-five to 65 percent of women who have the BRCA1 mutation and about 45 percent who have the BRCA2 mutation will develop breast cancer by the time they’re 70. About 39 percent of women with the BRCA1 mutation and 11 to 17 percent with the BRCA2 mutation will get ovarian cancer by 70.

By comparison, in the general population, only about 12 percent of women will develop breast cancer and 1.4 percent of women will develop ovarian cancer. So testing for these genes can be a life saving precaution.

Should everyone get tested?

When I saw the red flag on my DNA test, the first thing I did was look into further testing for harmful mutations. Not only did my test show that I might be a carrier—which, to be clear, is a long way from indicating that I am a carrier—but it also reflected the fact that I carry Ashkenazi Jewish DNA, an ethnic group with a high breast cancer risk. (One in 40 Ashkenazis are likely carriers, versus 1 in 500 in the general population.)

So I reached out to Ron Rogers—an executive vice president at Myriad, the genetics company whose scientists discovered the BRCA1 and BRCA2 genes in 1994, and who are extremely experienced in testing for mutations.

It turns out, just to get tested, one has to meet certain criteria, explained Rogers. The first step is asking your doctor to assess whether you qualify, based on guidelines set by the National Comprehensive Cancer Network (NCCN) and American Society of Clinical Oncology (ASCO). A woman can qualify if she has already been diagnosed with cancer or has a long family history of breast and ovarian cancer.

(I, personally, have no family history that I know about—but as I mentioned, my mother was adopted and knows nothing of her birth parents. Trying to get tested may be harder for me.)

If your doctor determines you meet the criteria for testing, he or she can order a genetic test with a company such as Myriad. It takes 5 to 7 days to get the results back.

The test will analyze your BRCA1 and BRCA2 genes in their entirety and look for mutations that have been classified as harmful. (Luckily, these tests are covered by most insurances, with little to no out-of-pocket cost for the patient.) When the results come back, your doctor will let you know your cancer risk. Mutations themselves are common—the problem occurs when they are classified as harmful.

What if you learn that you carry harmful BRCA1 and BRCA2 mutations?

When Jolie penned her first New York Times column about her medical choices two years ago, she had recently tested positive for a harmful mutation—and combined with her family history of cancer, she decided to undergo a double mastectomy. In her column this week, she revealed her choice to also remove her ovaries.

However, as Jolie stresses, surgery is not the only option for women with the harmful mutation. In my case, if I test positive, I will be tempted to wait until I’ve had children to undergo surgery. But what do doctors advise?

I spoke with Julie Culver, who has been a genetics counselor for over 20 years and currently practices at the University of Southern California’s Norris Comprehensive Cancer Center. Culver said she sees young women who face this and similar dilemmas all the time. Here’s what she tells them.

First, increase breast and ovarian cancer screenings. Culver said women who learn they have a harmful mutation should start getting screened for breast cancer at age 25. Women should get a mammogram once a year, an MRI once a year, a breast exam once every six months, and complete regular self-exams at home.

Ovarian cancer is tricker—it’s much harder to find, and when it is detected, it’s often too late. Culver recommends women with the mutation begin ovarian cancer screenings at age 30, but consider more invasive procedures before they turn 40. More on this later.

Second, take birth control. As Jolie mentions, some women take birth control to help prevent cancer. “It’s a little-known fact, but taking oral contraceptives for five years can reduce the risk of ovarian cancer by 50 percent,” Culver said. For this reason, she recommends that young women who discover they carry the harmful mutation take the pill. Doctors will determine which type of pill is best based on the patient.

Third, take medication. There are several medications women can take to lower their risk of breast cancer. Unfortunately, besides birth control, there aren’t any medications to ward off ovarian cancer.

Tamoxifen is a drug that is used to treat women who have breast cancer, but it can also lower your risk of getting breast cancer by 50 percent. However, younger women may not respond as well to the drug so it’s only recommended for women over 35 years old.

Fourth, consider surgery. Surgery is the most invasive treatment option for women who carry harmful mutations, but in many cases, it’s a necessary one.

Like Jolie did two years ago, some women opt for a prophylactic mastectomy. This is procedure in which both breasts are removed—by removing the tissue, women decrease their risk of developing cancer.

For younger women, unless they have a family history in which relatives were diagnosed with breast cancer in their 20s or early 30s, Culver says they be advised to wait until they are older to have a mastectomy, since early detection is possible with proper screening. After a mastectomy, breastfeeding is not possible.

“This is a very personal choice,” says Culver. “Not all women choose to do this, but as they get older, they may decide being anxious about cancer isn’t worth it, and they would rather not risk it at all.”

As for ovarian cancer, Culver said that the medical community recommends that all carriers of the harmful BRCA mutation get their ovaries removed by or around age 40.

Of course, after a woman’s ovaries are removed, she can no longer have kids (without the help of expensive, invasive, and not-always-effective fertility treatments). “The reason we say that the ovaries need to come out is because screening for ovarian cancer is not good. By the time we catch it, it’s at stage III,” Culver explained. “While there is treatment, it’s basically, if you get diagnosed with ovarian cancer you will probably die from ovarian cancer.”

Another downside, which Jolie mentions, is that the surgery kicks off menopause—even for women in their 30s—and leads to years of hormone replacement.

Ovarian cancer usually doesn’t occur in younger women, so doctors recommend women with the mutation who want children do what they can to give birth young—and by age 35, start thinking about removing their ovaries.

What I learned.

The inherited BRCA1 and BRCA2 mutations are rare in the general population. However, if you believe you are at risk, you should see your doctor and talk about testing. If you do test positive, remember to look into all your options. You can also check out websites like BrightPink.org, which offer support to carriers.

If you don’t test positive, you should still get regular screenings for breast cancer. Over the course of a lifetime, one in 8 women will be diagnosed with breast cancer and early detection is key.

As for me, considering my lack of family history and partial Jewish ancestry, I am still planning to see my doctor and look into testing options. If I am a carrier, I’ll cross that bridge when I get there. Like Jolie says, the thought of losing one’s ovaries is agonizing, but losing one’s life is worse.

Taryn Hillin is Fusion’s love and sex writer, with a large focus on the science of relationships. She also loves dogs, Bourbon barrel-aged beers and popcorn — not necessarily in that order.