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“You have breast cancer.”
No one ever wants to hear those words, but almost 250,000 women in the U.S. will get that diagnosis this year.
Before that happens, many are choosing to be tested for the “breast cancer gene” — mutations of the BRCA1 and BRCA2 genes that significantly increase the risk of developing cancer.
The statistics are eye-opening: 12 percent of women in the U.S. will develop breast cancer in their lifetimes. Those numbers, however, rocket to 65 percent among women with the BRCA1 gene mutation.
Only 5-10 percent of those cases will be inherited. “Most breast cancer is a disease of aging,” said Dr. Bonnie Reichman, an oncologist at New York Presbyterian Weill Cornell Hospital.
And while 90 percent of women who are screened for BRCA test negative, those who test positive face some of the most difficult decisions of their lives.
The most famous of them is actress Angelina Jolie, who proactively underwent a double mastectomy and oophorectomy to minimize her cancer risk after testing positive for the BRCA1 gene mutation.
Jolie’s story raised awareness of BRCA testing, but it also created controversy and confusion. Some women may have undergone unnecessary testing and surgeries. TODAY interviewed women who’ve been tested, as well as health experts. Here’s what they want all women to know:
1. Get familiar with your family tree.
People with a family history of early-onset breast cancer and other cancers should speak to a genetic counselor and consider testing.
Getting tested seemed like a wise choice for 39-year-old Carrie Berenstein, whose mother developed cancer in her early 30s, and whose father died of cancer at 57.
“My mother was scared," she said, “because it seemed like everyone in the family was getting cancer young, and thought it would be a good idea for my family to get BRCA testing done.”
Women and men from populations with increased risks of BRCA mutations — Ashkenazi Jews, for example — should consider testing, Reichman said.
This knowledge pushed Michelle Blumberg — a 47-year-old human resources professional — to have her first mammogram at age 40. She tested positive for the BRCA mutation.
“I was really positive beforehand,” she said. “It wound up being my first and last mammogram.”
2. The results might change your life.
Berenstein was just 28 when she tested positive for the BRCA mutation, giving her a 40-85 percent risk of developing breast or ovarian cancer in her lifetime.
Now under the care of a breast specialist, she wishes she’d been better prepared to deal with the repercussions of her positive test: a lifetime of fear and surveillance.
“You have cancer hanging over your head your whole life,” she said. “It makes you think, ‘Oh, I'm going to die young. I better live my life a certain way.'”
3. Men can carry BRCA mutation, too.
After testing positive, Blumberg sent letters to her family to inform them of their risks.
Her father and one of her brothers were found to have the mutation. Her brother is now enrolled in a study focused on male carriers.
4. Even if you don't have BRCA, you may still be at risk.
The BRCA gene gets all the attention, but it isn’t the only culprit. Dr. Julia Smith, an oncologist and the clinical director of cancer screening at the NYU Langone Cancer Center, said there are still many unidentified genes known to increase the risk of developing cancer.
“We are now testing people not just for the BRCA mutations, but for mutations in these other genes that can increase the risk of cancer and breast cancer,” she told TODAY.
5. If you test negative, it doesn’t mean you’re in the clear.
Dr. Susan Trociolla, a 47-year-old cardiothoracic surgeon, tested negative for the BRCA mutation.
But she found out she has an increased risk for other kinds of cancer, including some for which there is little preventative action.
“I didn't want a genetic test that I could do nothing with the results except be in fear,” she said.
6. Not all tests are created equal.
It can be hard to get tested if you don’t meet the criteria. Kim Henke a 34-year-old project manager from Chicago, always wanted to be proactive about her health, but had no significant family history of cancer. When she decided to be tested, she had to self-pay and go through a lab directly.
Dr. Smith cautions strongly against this.
“Don't do this for BRCA,” she said. “Genetic sequencing is not technically difficult. But curating the information and interpreting it, and constantly updating it and understanding the impact? That is very, very complicated."
“You have to have it done by a reputable company, and there are only a few right now that have truly good science behind them and a database that you can rely on.”
7. Surgery isn't the only option.
Many women are deciding not to proceed with preventative surgery, said Dr. Deborah Axelrod, a breast surgeon and professor at NYU Langone Medical Center.
“We have a large population of people who are BRCA positive, or have these newer genetic mutations, and we're just observing them.”
The patient’s age and whether she has finished childbearing are important considerations in deciding whether to have surgery, Axelrod said. “You can't just say, ‘Take your breasts off.’ As a breast surgeon, I wouldn't say that.”
8. Not everyone will understand your choice.
Be prepared for others' reaction, advised Berenstein. Her family and friends think she is playing a game of Russian roulette with her life by choosing not to have surgery.
But she said, “I am still young and hope to be in a relationship and remarry someday. What if I wanted to have more children and wanted to breastfeed?”
For more information about BRCA1 and BRCA2, check out this fact sheet from the National Cancer Institute.