Director of Clinical Genomics and Associate Professor of Pathology & Immunology Baylor College of Medicine / Texas Children’s Hospital Houston, Texas, United States
Description: Advances in next-generation technologies have significantly improved the detection and reporting of gene fusions in tumors. However, the lack of standardized best practices for fusion detection methodologies, pathogenicity evaluation, and reporting, particularly for uncommon or novel gene fusions, remains a challenge. This session will delve into the complexities of fusion identification, the use of advanced tools for accurate classification, and the importance of standardized fusion nomenclature and reporting.
Learning Objectives: - Describe the key functional components of gene fusions. - Define the contributions of the 5′ partner, 3′ partner, and breakpoint junction to the biological function of gene fusions. - Summarize the challenges of detecting gene fusions using current molecular methods.
