May 15, 2013 | by Nicole White
Faced with the knowledge that she carries a gene mutation that drastically increases her risk of breast and ovarian cancer, Angelina Jolie chose to have her breasts removed. She shared her story earlier this week in a frank New York Times op-ed that underscores the difficult choice faced by women who have the mutation.
In revealing her story, Jolie called attention to the fact that women with BRCA1 or BRCA2 gene mutations are roughly five times more likely to develop breast cancer than women without such a mutation.
Most women with cancer do not carry one of the gene mutations, and the mutations account for only a small percentage of cancers. About 5 to 10 percent of all breast cancers are associated with a BRCA mutation, and only women with a specific family history need to consider testing for BRCA mutations, experts say.
“One of the wonderful things about health care reform is women are not being treated as one homogeneous population,” Mortimer said. “Instead, it’s based on assessing each woman for her risk … Knowing your risk is what’s important.”
According to the National Cancer Institute, about 12 percent of women in the general population will develop breast cancer in their lifetime. Among those women who inherit a harmful BRCA1 or BRCA2 mutation, about 60 percent will develop breast cancer. An estimated 1.4 percent of women in the general population will develop ovarian cancer, compared to 15 percent to 40 percent of women with a BRCA1 or BRCA2 mutation.
Less than 1 percent of women have a BRCA mutation, so genetic testing is unnecessary for most women. Family history is an important factor in determining who is a candidate for testing.
“The reality is that most women have spontaneous breast cancer, and they don’t carry one of the known genetic mutations,” said Laura Kruper, M.D., director of the Rita Cooper Finkel and J. William Finkel Women’s Health Center at City of Hope. “Most women don’t know their risk. If you don’t have a genetic mutation, if you don’t have a family history, it doesn’t mean you don’t have any risk of cancer.”
There are some known risk factors for breast cancer: Women who have early menses and late menopause are at higher risk. Obesity and sedentary lifestyle are also known risk factors.
“Talk to your doctor,” Kruper said. “Understand that, with cancer, one size does not fit all, whether you’re talking about prevention, diagnosis or treatment.”
That’s true even for women with one of the high-risk gene mutations. Although preventative mastectomy is the most effective known method of avoiding breast cancer for women at very high risk, it’s not the only approach. Women can opt for additional screening, which cannot prevent cancer but may catch it early. High-risk women can also receive magnetic resonance imaging, or MRI, tests in addition to mammograms – alternating between the two every six months – in an effort to detect early-on any cancer that might develop.
In many cases, Kruper said, she encourages patients with a BRCA mutation to consider having their ovaries removed if they are finished with childbearing, as there is no screening tool for ovarian cancer and ovary removal also lowers the risk of breast cancer.
The National Cancer Institute recommends genetic testing for women who have: - Two close relatives – a mother or sister – diagnosed with breast cancer, with one of them diagnosed before age 51 - Three or more relatives, including aunts, grandmothers, sisters and mothers, diagnosed with breast cancer - A combination of relatives diagnosed with breast cancer or ovarian cancer - A mother or sister diagnosed with cancer in both breasts - A combination of relatives diagnosed with ovarian cancer - A mother, sister, aunt or grandmother diagnosed with breast and ovarian cancer - A male relative diagnosed with breast cancer
Women of Ashkenazi Jewish descent are more likely to carry the BRCA1 mutation. For these women, the National Cancer Institute recommends genetic testing for those with a mother or sister diagnosed with breast or ovarian cancer and those with two aunts or grandmothers on the same side of the family diagnosed with breast or ovarian cancer.
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