Evolving Paradigms in the Clinical Management of Hereditary Cancer Predisposition Syndromes: Integrating Genomic Advances into Clinical Practice

Hereditary cancer predisposition syndromes constitute a critical frontier in oncological research, representing a complex intersection of genetic, epigenetic, and environmental risk factors. Historically, the understanding and management of these syndromes centered around highly penetrant mutations identified through single-gene testing: an approach that informed individualized cancer prevention and treatment strategies. However, recent advances in Next-Generation Sequencing (NGS) and multigene panel testing (MGPT) have exponentially increased our ability to uncover an intricate web of moderate-penetrance genes and polygenic influences. While this technological leap has broadened the landscape of potential clinical action, a significant gap persists between genomic discovery and practical application. The oncology field now contends with interpreting a deluge of genomic data, including Variants of Uncertain Significance (VUS) and polygenic risk scores, much of which remains difficult to integrate into routine care.The central aim of this Research Topic is to address the critical "Implementation Gap" that has emerged between rapid genomic advances and their effective clinical translation. Specifically, it seeks to explore how emerging data and analytical tools can transform hereditary cancer management from a static diagnostic process into a dynamic, lifelong precision medicine model. This includes investigating frameworks for the interpretation of complex genomic findings, strategies for integrating risk-modifying variants into clinical decision-making, and methods for ensuring equitable access to cutting-edge diagnostics and therapies. We seek contributions that interrogate not only which mutations confer risk, but how best to act upon these findings in diverse populations and healthcare settings.This Research Topic encompasses the evolving spectrum of hereditary cancer risk assessment and management, with an emphasis on bridging the translation of genomics into routine oncology practice. We welcome articles that address, but are not limited to, the following themes:- Precision stratification: Incorporation of polygenic risk scores, moderate-penetrance genes, and artificial intelligence-based risk models.- Therapeutic evolution: Integration of germline genetics into systemic therapy selection, including targeted and immunotherapeutic approaches.- Clinical translation and management: Navigating VUS reclassification, cascade screening logistics, and fostering health equity in genetic services.- Advanced surveillance and prevention: Innovations in imaging, liquid biopsy for early disease detection in high-risk individuals, and the psychosocial dimensions of genetic testing.- Practical frameworks for longitudinal surveillance and risk-adapted intervention based on evolving genomic insights.Please note that manuscripts consisting solely of bioinformatics or computational analysis of public genomic or transcriptomic databases that are not accompanied by validation (independent cohort or biological validation in vitro or in vivo) are out of the scope of this Research Topic. Topic editors: Francesca Carlino, Anna Diana, Alka Singh, Jole Ventriglia Source: https://www.frontiersin.org/research-topics/80472/evolving-paradigms-in-the-clinical-management-of-hereditary-cancer-predisposition-syndromes-integrating-genomic-advances-into-clinical-practice