Testing for BRCA1 and BRCA2 gene mutations, which significantly increase a woman’s risk of getting breast cancer and ovarian cancer, is on the rise among women ages 40 and under who’ve been diagnosed with breast cancer, suggests a study published online Thursday in JAMA Oncology.
The significance of carrying the BRCA gene was highlighted in 2013 when actress Angelina Jolie went public with her decision to undergo a preventive double mastectomy, after testing revealed she carried the BRCA1 genetic mutation. Jolie, whose mother died of ovarian cancer, reportedly faced an 87 percent risk of developing breast cancer. In 2015, Jolie announced plans for surgery to remove her ovaries and fallopian tubes.
In the new study, Dr. Ann Partridge of the Dana-Farber Cancer Institute and co-authors explored how women’s concerns about genetic risk and information affected their treatment decisions. Nearly 900 women who were diagnosed with breast cancer at 11 medical centers were included, according to a journal press release. Within one year after diagnosis, 87 percent of the women had undergone BRCA testing.
As time went on, the frequency of testing increased, the researchers found. Of women diagnosed in 2006, about 77 percent reported being tested. While that rate dipped to 70 percent for the following year, the proportion rose to nearly 97 percent for 2012 and about 95 percent for 2013.
Positive BRCA1 results were reported in 7.6 percent of women who were tested, and positive BRCA2 results were seen in 4.5 percent. Of other results, 4.6 percent were indeterminate or with unknown significance.
Of the women who were tested, 30 percent said knowledge or concern about the genetic risk of breast cancer influenced their treatment. Of the mutation carriers, 86 percent chose to have both breasts removed. Of the non-BRCA carriers, 51 percent had bilateral mastectomy. Carriers were also more likely to undergo preventive ovary removal.
Of women who did not seek testing, 32 percent did not report discussing with a physician or genetic counselor the possibility of having a BRCA mutation. Of the untested women, 37 percent were thinking of future testing.
“Given that knowledge and concern about genetic risk influence surgical decisions and may affect systemic therapy trial eligibility, all young women with breast cancer should be counseled and offered genetic testing, consistent with the National Comprehensive Cancer Network guidelines,” the authors concluded.
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