‘Earlier than Early’ Detection of Breast Cancer in Israeli BRCA Mutation Carriers Applying AI-Based Analysis to Consecutive MRI Scans

Abstract

Female BRCA1/BRCA2 (=BRCA) pathogenic variants (PVs) carriers are at a substantially higher risk for developing breast cancer (BC) compared with the average risk population. Detection of BC at an early stage significantly improves prognosis. To facilitate early BC detection, a surveillance scheme is offered to BRCA PV carriers from age 25–30 years that includes annual MRI based breast imaging. Indeed, adherence to the recommended scheme has been shown to be associated with earlier disease stages at BC diagnosis, more in-situ pathology, smaller tumors, and less axillary involvement. While MRI is the most sensitive modality for BC detection in BRCA PV carriers, there are a significant number of overlooked or misinterpreted radiological lesions (mostly enhancing foci), leading to a delayed BC diagnosis at a more advanced stage. In this study we developed an artificial intelligence (AI)-network, aimed at a more accurate classification of enhancing foci, in MRIs of BRCA PV carriers, thus reducing false-negative interpretations. Retrospectively identified foci in prior MRIs that were either diagnosed as BC or benign/normal in a subsequent MRI were manually segmented and served as input for a convolutional network architecture. The model was successful in classification of 65% of the cancerous foci, most of them triple-negative BC. If validated, applying this scheme routinely may facilitate ‘earlier than early’ BC diagnosis in BRCA PV carriers.