You (or Someone You Know) Has the BRCA1, 2 Gene Mutation. Now What?

Health Writer
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Just as Taylor Basile was mourning her father’s passing from cancer, her mother was diagnosed with breast cancer. At age 22, Basile felt her whole world crashing down, and she wondered if she might be next.

“My grandmother had breast cancer, and my great-grandmother, and to see my mom start to go through treatment, I got very worried,” she says. “I thought, am I about to lose both parents and then have cancer myself?”

She decided to get genetic testing to see if she carried a mutation in one of her BRCA genes, which would significantly increase her risk of cancer development. After testing positive and evaluating her options — such as an aggressive screening schedule for early cancer detection — Basile opted for a preventative double mastectomy at age 24, with reconstruction and breast implants done at the same time as surgery.

Because the BRCA gene mutation also increases her risk of ovarian cancer, she plans to have her ovaries removed within the next five years, and will freeze her eggs in the meantime.

“For me, this path is about peace of mind,” she says. “I feel like this gives me more control and less worry. It’s not for everyone, but I felt like it was the best possible choice for me and my life.”

Taylor with her family.
Taylor (left) with her mother (middle) and grandmother (right).
Taylor Basile

BRCA basics

Everyone is born with BRCA1 and BRCA2 genes (BRCA comes from BReast CAncer susceptibility gene), and when they work normally, these genes help repair DNA and regulate cell growth, preventing tumors from growing. But for a small portion of the population, like Basile, one or both of these genes can be mutated, causing the opposite result — tumor development instead of suppression. BRCA1 and BRCA2 gene mutations aren’t the only mutations that have been found – others include ATM, CDH1, PALB2, PTEN, and TP53. A BRCA3-like gene mutation has even been discovered.

Although they’re most linked to breast cancer, the BRCA1, 2 gene mutations are also associated with higher risks for ovarian, prostate, peritoneal, fallopian tube, and pancreatic cancer. An estimated 72 percent of women with gene mutations in BRAC1 and 69 percent of women with BRCA2 will develop cancer by 80.

By contrast, 12 percent of women in the general population will develop that type of cancer in their lifetime.

Your lifetime ovarian cancer risk for women with a BRCA1 mutation is estimated to be between 35 and 70 percent. With the BRCA2 mutation, risk is between 10 and 30 percent. With no mutation, the lifetime risk is less than 2 percent for ovarian cancer.

And if you do get cancer and have the gene mutation, the cancer tends to be triple negative breast cancers: estrogen receptor-negative (ER-negative); progesterone receptor-negative (PR-negative); HER2-negative. While these tumors can be treated successfully, they’re “often aggressive and have a poorer prognosis than ER-positive breast cancers (at least within the first five years after diagnosis),” according to Susan G. Komen.

Options when you’re BRCA-positive

If you test positive for a BRCA gene mutation, there are three main options in terms of how to move forward, according to Dana Clark, M.S., L.C.G.C., senior genetic counselor at the Basser Center for BRCA at Penn Medicine.

The first is to get on a frequent screening schedule that includes both mammograms and MRIs, says Clark. Because mammograms use radiation, it’s not advisable to have them more than annually, particularly if you have a BRCA mutation, she adds. That’s why MRIs are added, also annually. For example, you might have a mammogram every January and an MRI every June, so even if cancer develops, it will only have six months maximum to grow until it’s detected.

“Some women will do that starting at age 25, or whenever they are determined to be BRCA positive, continuing for the rest of their lives,” says Clark. “Others might want something that’s a little more preventative, in addition to screening.”

For that option, screening is still done every six months, but medication is also added for five years, Clark notes. The most common option is tamoxifen (Nolvadex), a form of chemotherapy taken as a daily pill. Clark says that’s been shown to lower breast cancer risk by 50 percent over the five-year period.

The third alternative is what Basile chose, which is preventative surgery. In that case, someone who is BRCA positive would have a bilateral mastectomy, lowering breast cancer risk by 80 to 90 percent, Clark says. Some women also opt for removing their ovaries, fallopian tubes, or having a hysterectomy.

“Having surgery before you get cancer is much easier than waiting to have the surgery when cancer develops,” she adds. “You can doctor shop, do the surgery on your schedule, and the surgeon doesn’t have to take lymph nodes that may be affected by cancer cells. Also, reconstructions have gotten so much better in the past 20 years that women are increasingly comfortable with this option. There isn’t the stigma attached to it that there used to be.”

Will insurance pay?

But will health insurance cover this type of surgery? While no federal laws require insurance companies to cover prophylactic (i.e., preventative) mastectomy, The Women’s Health and Cancer Rights Act (WHCRA), enacted in 1999, “requires most health plans that offer mastectomy coverage to also pay for breast reconstruction surgery after mastectomy,” according to the National Cancer Institute (NCI).

Both the NCI and the Susan G. Komen recommend that those with positive BRCA1, 2 gene mutation test results check with their insurance providers’ coverage before pursuing prophylactic treatment.

For Taylor, there was no insurance drama: “I did not have any push back when getting tested," she says. "Insurance covered my testing as my mom was also BRCA1 positive.”

Screening for family members

Keep in mind that both men and women can carry the BRCA gene mutations, so if you have cancer on either side of the family, you may be advised to talk with a genetic counselor.

Also, if you have had cancer yourself and feel concerned for your siblings and children, speak with a counselor about whether they should get the DNA test as well. Clark notes that if you’re positive, your siblings and children have a 50 percent risk of being positive.

“This can be a difficult topic to broach, especially among families, but education is key,” says Clark. “I’ve found that people who are very anxious about a positive result and end up being positive are happy they got the test. It gives them the ability to make more informed health decisions for themselves and their whole family.”

For Basile, there hasn’t been a moment of regret about getting the test or having the procedures she chose. And if she has children, she’s confident that she’ll encourage them to get tested as well when they’re in their 20s.

“I think it’s the best decision I’ve ever made, to find out if I was BRCA positive,” she says. “It’s changed my outlook on life, I feel empowered and confident now. I think that knowing my risks, and doing something about it, helped me to live my best life.”