The only test for BRCA gene mutation is made by Utah-based Myriad Genetics and it can be costly.
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Brenda Carlisle was a freshman in college when she watched her mother die of breast cancer.
"She was pretty sick. It metastasized to her liver, and she had chemo, but at that point there was very little they could do for her," Carlisle said. Her mother was 56 years old. "It was like the rock of the world was taken away."
Now 50 herself, the intake coordinator at New Vision drug treatment center at Lakeview Hospital in Bountiful said she's increasingly wondering whether her mother carried a genetic mutation that made her more susceptible to the disease. If so, Carlisle, whose aunt also died of breast cancer, could also be at a greater risk. Though she hasn't been tested for the mutation yet, Carlisle knows she would have her breasts proactively removed.
"We're at a time in life where we have the luxury of controlling what happens to our bodies," she said. "It's empowering that way. You want to have some control, some say."
Carlisle shares the choice with one of the most watched women in the world. In an essay published Tuesday in the opinion section of The New York Times, actress and director Angelina Jolie said she's had both breasts removed and reconstructed after testing positive for a "faulty" BRCA1 gene. A harmful mutation in BRCA1 or BRCA2 genes increases a woman's risk of breast and ovarian cancer.
Jolie lost her own mother, who died at age 56, to ovarian cancer.
About 35 to 45 percent of American women who have a BRCA mutation choose to do the same, in an operation that is often covered by insurance, said Jose Tamayo, director of women's imaging at Lakeview.
"To me it doesn't really seem that radical," Tamayo said. "If you know the airplane you're going to fly on has an 80 percent chance of going down, who would say you're being extreme by not getting on that plane?"
A small number of women one in 400 have a mutation that causes one of the two tumor-suppressing genes to malfunction, and only a small fraction of breast cancer cases have a genetic cause. For those who do have the mutation, though, the danger of getting cancer increases 65 percent on average.
But not all carriers get sick, and many choose to keep their breasts and ovaries, instead using oral contraceptives, chemoprevention drugs and keeping careful tabs on the tissue with MRI testing.
As late as the 1960s, radical mastectomies removal of the pectoral muscles and lymph nodes as well as the breasts were the only choice for breast cancer patients, said Brett Parkinson, imaging director of Breast Care Services at Intermountain Medical Center.
Gradually, less drastic operations were shown to be just as effective at removing tumors, and the focus turned to preserving women's breasts. Since the introduction of genetic testing in the 1990s, though, proactive removals have become more common.
The surgery is "a reasonable option for women who have that clinical profile," Parkinson said.
The genetic test, though, has a $3,000 price tag, Carlisle said, which explains why she hasn't been tested yet.
"I don't walk around with three grand in my pocket," she said. "If it's covered [by insurance] I would go for it."
The test for BRCA gene mutations is marketed by Salt Lake City-based Myriad Genetics Inc., whose patent on the genes is the subject of a lawsuit argued before the U.S. Supreme Court earlier this year. If the American Civil Liberties Union prevails, the cost of the test could drop as competitors are allowed to manufacture it.
The test is at least partially covered by insurance in about 80 percent of cases, and Myriad often picks up the tab for people who are uninsured, Tamayo said.
The increased risk of ovarian cancer can pose the greater threat, because there is a lack of effective early detection methods.
"Most breast cancer can be effectively treated. Most women do not die of breast cancer," said Parkinson. "Ovarian cancer is sneaky and insidious and oftentimes we do not catch it early."
Should I be tested?
Doctors say women with two or more first-degree relatives (such as mothers or sisters) who have had breast or ovarian cancer should consider speaking with a physician about testing for BRCA1 or BRCA2 gene mutations.
Angelina Jolie says she had a preventive double mastectomy
LOS ANGELES • Angelina Jolie says that she has had a preventive double mastectomy after learning she carried a gene that made it extremely likely she would get breast cancer. Read the full story here.