Director of Clinical Genomics and Associate Professor of Pathology & Immunology Baylor College of Medicine / Texas Children’s Hospital Houston, Texas, United States
Gene fusions are oncogenic drivers with diagnostic, prognostic, or therapeutic relevance. This talk will provide a structured overview of gene fusion biology, including definitions, structural components such as 5′ and 3′ partners and breakpoint junctions, and discussion of fusion types based on genomic architecture and functional impact. We will explore current molecular detection methods—such as RNA sequencing, DNA-based assays, and hybrid capture—and discuss key technical and biological variables that influence fusion detection, including specimen type (e.g., FFPE vs. fresh frozen), RNA quality, tumor purity, and expression levels.
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.
