When Angelina Jolie told the world that she’d had a preventive double mastectomy after learning she was at high risk for developing breast cancer, the public reacted with surprise, compassion—and, for many women, wonder.
According to Lillie Shockney, R.N., administrative director of the Johns Hopkins Breast Center and Cancer Survivorship Programs, only about 5 percent of breast cancers are thought to be caused by the BRCA1 or BRCA2 gene, though women like Jolie who carry BRCA1 have a 60 to 80 percent chance of developing breast cancer, as well as a 40 percent risk of ovarian cancer.
Before women rush out to get tested, however, Shockney strongly advises they first speak to a genetic counselor, who can help them determine what the results might mean for them and their families.
“If a woman tests positive for the gene, is she psychologically ready to take proactive measures?” she says. “There are other issues, too, because it impacts the entire family.” Will her children and siblings, who also might carry the gene, be ready for her news?
On the other hand, a negative test doesn’t mean a woman will never develop breast or ovarian cancer. “If your BRCA gene test is negative, but your family history highly suggests an inherited predisposition to cancer, extensive testing of other genes may be required,” says David Euhus, M.D., chief of breast surgery and director of the Breast Center.
Men who have similar family histories should consider genetic testing, too. Their risk of developing breast cancer is low (6 percent for those carrying a gene), but they could pass the gene on to their daughters.
Some women who carry the BRCA1 gene choose to be proactive and have a double mastectomy. Others opt instead to screen for breast cancer more diligently and then take surgical measures if necessary. The latter is acceptable for breast cancer, “but not for ovarian cancer,” Shockney says. “We really have no good way of testing for ovarian cancer.”
She is an advocate for women with the BRCA1 gene having their ovaries and fallopian tubes removed as a precaution. Most important, Shockney urges women to have a thoughtful, serious discussion with a genetics expert before testing and after, if they test positive.
“Women need to determine how aggressive they want to be about prevention,” she says, “and understand every option available to them.”
A Great Time for Guidance
Genetic testing for breast cancer opens up opportunities and emotions, says Lillie Shockney, R.N., administrative director of the Johns Hopkins Breast Center and Cancer Survivorship Programs and a two-time breast cancer survivor. Having genetic counseling first is essential to prepare for whatever the outcome of testing might be. Having someone to support you as you make decisions can be just as important.
The genetic consultation and testing program at Johns Hopkins includes volunteers who have tested positive for the breast cancer gene.
“Women who are considering genetic testing often like to talk to someone else who’s traveled that road,” Shockney says. “We have the ability to connect them with someone who would be a mirror image of themselves. That provides a lot of comfort. You don’t feel like you’re doing this on your own.”