For Breast Cancer Patients at Known BRCA Risk, a Role for Testing Prior to Surgery

Elizabeth Lokich, MD

The majority of women with breast cancer who undergo the recommended genetic testing for BRCA1/2 mutations and test positive prior to undergoing surgery will change their surgical plan to include a more extensive procedure, a new study reports.

“As soon as somebody hears they have a 65% chance of a new breast cancer in the future or an up to 60% chance of ovarian cancer, they are likely to do whatever they can to prevent that,” lead author Elizabeth Lokich, MD, an obstetrics and gynecology fellow at the Warren Alpert Medical School of Brown University and at Women & Infants Hospital, said in a statement.

The study, which appears online in the journal Gynecologic Oncology, was based on a retrospective review of the records of 302 breast cancer patients at Women & Infants Hospital who had undergone preoperative genetic testing between 2006 and 2012 because they met National Comprehensive Cancer Network (NCCN) guidelines.

Within that group, 32 learned that they carried a mutation in their BRCA1 or BRCA2 genes. Of those women, 71.9%, or 23, changed their surgical plan compared with 28.9% of women who tested negative.

Among the mutation carriers, 31.3% chose lumpectomies, while 59.4% chose double mastectomies, and one in eight chose ovary removal. Among women who tested negative, 58.5% chose lumpectomies, 20.7% chose double mastectomy, and none elected to have their ovaries removed.

“Particularly because of what we found—that it changes their surgical planning—it really makes the most sense to have this evaluation done preoperatively,” Lokich said.

Many women who meet the guidelines do not have a preoperative genetic test, even though it can provide important information. The effect of a positive BRCA mutation test on surgical decision-making had not been studied before because some have argued that testing would add too much stress at a time when women are already coping with learning of their serious diagnosis.

However, Lokich said other studies suggest that genetic testing doesn’t add much stress overall. Instead, the likely reason most women in the study who tested positive for BRCA often changed their surgery plan from lumpectomy to double mastectomy was to prevent a second bout of breast cancer or ovarian cancer.

In the study Lokich and her colleagues found that genetic testing significantly delayed getting to surgery, but not by enough to postpone it past the 90 days post diagnosis that studies have shown to be clinically significant.

“We recommend that women meeting NCCN referral guidelines have their genetic evaluation done prior to surgical intervention