The BRCA gene mutations give women a 50-50 chance of developing breast cancer. Genetic testing can help them make a plan to protect themselves.
Dana Cherry knew there was a good chance she would get breast cancer. When she was 25, she discovered that she had a gene mutation associated with a 50 percent chance of developing breast cancer by age 70.
It was a devastating revelation, especially at her age. Recently engaged, in the middle of planning a wedding and looking forward to starting a family, she felt thrown for a loop.
“I was like, ‘What does this mean?’” says Cherry, a physical therapist at TIRR Memorial Hermann Outpatient Rehabilitation – Kirby Glen Center. “It was very upsetting and dramatic.”
But it was also empowering. Armed with information, she could make a plan to reduce her risk. “It didn’t feel like the end of the world because there were things I could do to protect myself,” she says. “I met with an oncologist, and I started going for physical exams every six months, with yearly MRIs. I had these actionable steps I could take.”
About 1 in every 500 women in the United States has a mutation in either her BRCA1 or BRCA2 gene, according to the U.S. Centers for Disease Control and Prevention. Mutations in either gene put women at a much higher risk of developing breast cancer: 50 percent of women with a BRCA1 or BRCA2 gene mutation will get breast cancer by the time they turn 70, compared to only 7 percent of women without the mutation. And they tend to get it younger, around age 35 or 40, while people without the BRCA mutation are more likely to be diagnosed after age 50, according to Anneliese Gonzalez, MD, director of the Division of Hematology/Oncology with McGovern Medical School at UTHealth Houston and an affiliated oncologist with Memorial Hermann-Texas Medical Center.
“We do find young women with breast cancer who don’t have the genetic BRCA mutations, so you have to pay attention, even with no family history,” says Dr. Gonzalez, who treated Cherry’s cancer. “But on average, women with these gene mutations tend to be diagnosed younger, and they can get the more aggressive triple negative breast cancer type.”
Ultimately, Cherry planned to have a preventive mastectomy. Her plan was to wait until after she’d finished having children to get the surgery. But cancer didn’t wait.
In late 2019, when Cherry was just 30, she got the diagnosis. The tumor was so small she couldn’t feel it, but it showed up on her first MRI after giving birth to her son. Her routine MRI had been delayed slightly because imaging isn’t as effective when a woman is pregnant or breastfeeding.
A biopsy confirmed that the tumor was cancerous, and it was a highly aggressive form. But because it had been caught early, while still in stage I, Cherry’s odds were good. Dr. Gonzalez came up with a treatment plan that included chemotherapy, followed by a double mastectomy. “The cancer was in my right breast, but because of all the risk factors, we decided to remove the left one at the same time,” Cherry says.
It was distressing, but in some ways, Cherry was prepared.
“Even though I had already processed some of it, so much was new and hard. But having some decisions made helped,” she says. “Even the idea of having the mastectomy: I knew I was going to have to do it eventually. It just happened a few years earlier than I had planned.”
Having a plan in mind made it easier to overcome her shock and leap into action. She knew, for instance, that she wanted to freeze some of her eggs in case the cancer treatment interfered with her chances of having more kids. And she had to act quickly.
“I was diagnosed October 23, 2019, but they let me put off starting chemo for a month so I could do some fertility treatments and then an egg retrieval. I did surgery for the egg retrieval on a Monday, I got the port for chemo placed on Tuesday, and I started chemo Wednesday, the day before Thanksgiving,” she says.
After finishing chemo early in 2020, Cherry underwent the mastectomy, followed by reconstructive surgery. Now she’s cancer-free and looking forward to what the future holds. And she’s grateful that she got the genetic test that put her on her guard and helped her catch the cancer early, a decade before she would have otherwise started getting routine mammograms.
“Finding out I had the BRCA mutation — even that diagnosis is kind of scary. But at the end of the day, if it makes you more prepared, that’s a good thing,” she says.
Ironically, she underwent genetic testing because a maternal aunt had died from breast cancer at a young age, but she later discovered that aunt did not have the BRCA mutation. It was on her father’s side instead.
Oncologists don’t recommend that everyone get tested for the BRCA mutations, since they are relatively uncommon. But if you have a family history — such as several relatives with breast cancer, any relatives who got breast cancer before age 50, or any relatives with ovarian cancer — or if you yourself get breast cancer at a young age, they recommend discussing with your physician if you should undergo genetic counseling and testing.
“Genetic testing is not part of screening for all patients because the yield would be low for the general population,” says Dr. Gonzalez. “If a patient has cancer at a young age, we recommend genetic testing because it’s not as common to have cancer as young as Dana. That’s how it usually is found in families that don’t know they have it.”
And that information can be important for a patient’s relatives, including male relatives. The BRCA gene mutation also significantly increases the risk of developing other forms of cancer, including ovarian cancer in women, prostate cancer in men, and pancreatic cancer in both.
Some people are reluctant to undergo genetic testing, however — including members of Cherry’s family.
“I have told other relatives on my father’s side that they should get the test, and they just won’t,” she says. “That’s borderline mind-boggling to me, because there are steps you can take. Having that information really empowers you. To me not knowing is worse.”
For those who do undergo testing, there’s no right or wrong response to finding out you have the BRCA mutation, says Dr. Gonzalez.
“We don’t tell patients you have to do a mastectomy right away,” she says. “You can do as much or as little as you’re comfortable with. You can watch closely with alternating imaging studies and try to catch it early if cancer develops — and have a better chance of successful treatment — or do the surgery if you want to be as aggressive as possible.”
There are many reasons someone might not want to do the test, but Dr. Gonzalez encourages people who might be at risk to find out for sure.
“Obviously it’s a personal decision, and it’s absolutely your right to decide whether or not to do it,” Dr. Gonzalez says. “The way I would look at it is, I think information is power. You get the test, and then you can decide what you think is the best thing to do. Not knowing gives you no way to deal with this issue. If you know you have the mutation, you can choose not to do anything at all, but at least you’re aware, and if you have symptoms you might be more likely to see a doctor sooner.”
For more information, visit memorialhermann.org/services/conditions/breast-cancer.
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