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The increased risk for BRCA carriers is frightening. In the general population, about 12 in 100 women will get breast cancer during their lifetimes, compared to about 60 in 100 women who have faulty BRCA genes, according to the National Cancer Institute. For ovarian cancer, the lifetime risk in the general population is a little more than 1 in 100 compared to 15-to-40 in 100 women with BRCA mutations.
For women with a family history of breast or ovarian cancer, the decision to get tested can be agonizing. The $3,300 blood test, while often covered by insurance, can disrupt families, force decisions on childbearing and leave a woman feeling stigmatized. Surgery costs thousands of dollars, not including lost time at work. Without preventive surgery, a woman faces a regimen of mammograms, MRIs and blood tests to look for cancer.
But several signs point to "the beginning of a new era" for high-risk women, said Joanna Rudnick, a 36-year-old Los Angeles filmmaker. She has known for nine years that she carries a breast cancer gene mutation. Engaged and planning to have children, she's also planning to have her breasts and ovaries removed when she's 40. Her documentary "In the Family" tells about her choices and those faced by other "BRCA-positive" women.
With testing more than a decade old, researchers are just beginning to have better data to understand the benefits of risk-reducing surgery. For high-risk women, equally important are the breakthroughs in cosmetic breast reconstruction, laws to prevent genetic discrimination and evolving attitudes toward removing body parts to avoid cancer, Rudnick said. A federal judge recently struck down patents on the two genes held by Myriad Genetics Inc., which may widen research possibilities and testing options.
Rudnick's glad to hear ovary removal may reduce her risk of breast cancer as well as ovarian cancer.
"This is one of the rare silver linings that has been learned from these prospective studies," Rudnick said.
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