Clinical Practice for Unaffected Pathogenic Variant Carriers of BRCA1/2
摘要
Unaffected carriers of pathogenic BRCA1/2 variants comprise a high-risk population, in which timely systematic surveillance and appropriate risk-reducing interventions can markedly alter clinical trajectories. Contrast-enhanced breast magnetic resonance imaging (MRI) is the most sensitive imaging technique for the early detection of these carriers and is recommended by international guidance panels; however, real-world implementation faces policy, financial, and operational barriers that limit equitable access. This chapter proposes guidelines, presents the Showa Medical University institutional experience, details practical workflows for MRI-guided surveillance and diagnostic follow-up, summarizes outcomes and implications for treatment de-escalation, and describes risk-reducing surgical options. We also propose pragmatic steps to expand access through policy change, regional hub development, standardization of imaging practice, workforce training, and prospective studies.