RESUMEN
BACKGROUND: High-risk BRCA mutation carriers are offered a surveillance scheme aimed at early detection of breast cancer. Although the efficacy of this scheme in breast cancer detection is well-established, the rate of breast cancer diagnosis of radiologically suspicious lesions and the effect of this screening scheme on breast cancer grade and stage are less well-defined. PATIENTS AND METHODS: Female BRCA1 and BRCA2 mutation carriers who were cancer-free at the beginning of follow-up at the Meirav High-risk Clinic, Sheba Medical Center, were eligible. Radiological imaging data (mammography, ultrasound, magnetic resonance imaging, Breast Imaging Reporting and Data System scores), and histopathologic data on breast biopsies were retrieved. RESULTS: Overall, 1055 women participated in the study; 760 (72%) were Ashkenazim, 661 (62.6%) were BRCA1 mutation carriers, the mean age at first visit was 44.1 ± 11.8 years, and there was a mean follow-up of 6.2 years. All participants underwent 6641 breast imaging tests: 2613 magnetic resonance imagings, 2662 breast ultrasounds, and 1366 mammograms. Overall, 295 biopsies were performed on 254 women: 82 (27%) biopsies on 79 women were diagnosed with breast cancer, including ductal carcinoma in situ: invasive breast cancer was diagnosed in 58 (70.7%), of whom 36 (62% of invasive cancer) were grade 3, and all but 10 were stage 1 to 2. Benign findings were noted in 213 biopsies performed on 175 women, with fibrocystic disease (n = 134; 62.9%) or fibroadenoma (n = 60; 28.16%) most commonly diagnosed. CONCLUSIONS: Adherence to a breast cancer surveillance scheme enables breast cancer detection at an early stage but at advanced grade. Most biopsies (72%) performed in this high-risk clinic are benign.