Expectations of Surveillance for Non-BRCA Gene Mutation Carriers at Increased Risk for Breast Cancer

The University of Alabama at Birmingham Preventative Care Program for Women's Cancer provides genetic testing, risk evaluation, and screening for breast cancer. Women diagnosed with high-risk mutations may opt to undergo active surveillance or prophylactic surgery. This decision requires understanding of the surveillance process and its potential outcomes. In this study, we report specifically on women with non-BRCA1 or BRCA2 mutations.

A retrospective, cross-sectional study was conducted of women enrolled in our program identified as high risk because of non-BRCA mutations. Events regarding genetic mutations, method of detection of suspicious lesions, number of biopsies, results of those biopsies, prophylactic surgery, and cancer diagnosis were collected.

We identified 78 patients with asymptomatic non-BRCA deleterious mutations. Sixteen mutations were identified, with the most common being ATM, CHEK2, and PALB2. In total, 11.5% underwent prophylactic surgery and 88.5% underwent active surveillance. In the surveillance group, 63.8% had no examination or imaging to warrant biopsy, 24.6% had biopsy with benign result, and 11.6% had biopsy with malignant result. For the nine women who developed breast cancer during surveillance, six were diagnosed with ductal carcinoma in situ, two with stage I, and one with stage IIA cancer.

Women with non-BRCA mutations enroll in prevention clinics with hopes of early detection of breast cancer. Because of increased screening, this population undergoes biopsy more frequently; however, during surveillance most do not require a biopsy. For those that do, the result is typically benign. This information can further allow women to make informed decisions about surveillance and establish realistic expectations regarding the likelihood of tissue sampling.