'Earlier than Early' Detection of Breast Cancer in Israeli BRCA Mutation Carriers Applying AI-Based Analysis to...

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.