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May 15, 2013
10:05 AM

Angelina Jolie's Double Mastectomy Prompts Questions about Breast Cancer Gene Testing

Like the actress, women who have one of two BRCA genes run a high risk of breast and ovarian cancer. Should southeast Michigan moms consider the pricey test?

Angelina Jolie's Double Mastectomy Prompts Questions about Breast Cancer Gene Testing

Most moms would proudly proclaim, "I'd do anything for my children." For mother and actress Angelina Jolie, this statement rang true when she made a recent life-altering decision to have a preventative double mastectomy.

In a recent New York Times op-ed piece, Jolie shared that she had the preemptive surgery after test results concluded she had a "faulty" BRCA1 gene. The gene put her at an 87 percent chance of developing breast cancer and a 50 percent chance of getting ovarian cancer, she wrote. Jolie, who lost her mother to cancer at age 56, decided to act for her family.

"My chances of developing breast cancer have dropped from 87 percent to under 5 percent," she noted. "I can tell my children that they don't need to fear they will lose me to breast cancer."

Though the decision to have the mastectomy "was not easy," she stresses that it's a decision she's "very happy" she made.

Now that she's spoken out about her own experience, she's urging other women to get more information and consider their options, too. But where should you start if you think you're genetically predisposed? What is the test like, what is the cost, and what are the options?

What are BRCA1 and BRCA2 genes?

BRCA1 and BRAC2 are genes that, when normal, "help ensure the stability of the cell's genetic material (DNA) and help prevent uncontrolled cell growth," the National Cancer Institute says. Like in Jolie's case, if a woman inherits "a deleterious (harmful) BRCA1 or BRCA2 mutation," she is at a higher risk of developing breast cancer and ovarian cancer, the NCI notes.

According to Dr. Maria Worsham, a senior scientist at Henry Ford Hospital in Detroit, this inherited risk of breast cancer is rare. "Most breast cancer is not inherited," she says, noting that only about 5-10 percent is.

However, "If you have a mother, a sister or a close relative – especially somebody in your family who has breast cancer or had breast cancer at a younger age, an age less than 50," Worsham says, "those are clues that something must be going on here."

Those with the gene mutation have about a 60-percent chance of developing breast cancer. But Worsham says people should think about it in the context of those who get cancer who do not have this hereditary mutation, which is about 12 percent in a lifetime.

The test and the cost

Before jumping into testing, Worsham notes, there is another important step to take.

"I would say that first step is to sit down with a genetics counselor and get your level of risk," she says, adding that patients will then be advised to have testing depending on their "individual risk." The test is a blood test.

But the test is pricy, running around $3,000 – which Jolie agrees "remains an obstacle for many women."

Genetic counseling and testing, "if appropriate," are covered under the Affordable Care Act, according to the United States Department of Labor.

What to do if you have the gene

And if a woman does have the gene mutation, is a double mastectomy the preventative approach she should take? Not if she's considering cost.

"To have a double mastectomy, there are lots of surgical costs here," Worsham says. "To her (Jolie), resources are not a consideration" – but " is likely to be a factor in most women's lives."

But Worsham says women can be "proactive" in several other ways, too. The first? Do a self breast exam, and also have your doctor perform a clinical breast exam, she says. Worsham adds if a woman does find she has this mutation and she's younger than 40, she will be advised to have a mammogram every six months.

As for ovarian cancer, it's "a little bit more difficult," she says, but higher-risk women should be aware of unusual abdomen pains. Women at high risk can consider a cancer antigen 125, or CA-125, test, which is also a blood test, Worsham notes. According to WebMD, this test "measures the amount of the CA-125 protein in the blood," which is an indicator.

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