Transitioning Diagnostic Molecular Pathology to the Genomic Era: Cancer Somatic Mutation Panel Testing

摘要: The ongoing discovery and validation of cancer molecular biomarkers, as well their use in the design targeted therapies, is shifting oncology from tissue- disease-based treatments to target-based protocols. Conventional methods genotyping (e.g., cytogenetics, FISH, PCR) are often insufficient for efficiently capturing complexity genome, while next-generation sequencing (NGS), which promises revolutionize field, still needs several more years maturation before it ready generalized clinical use. To bridge this divide between traditional assays coming NGS era, relatively simple multiplexed diagnostic have been developed that existing techniques provide high-content information an efficient cost-effective manner. One example such approach SNaPshot, a robust highly sensitive tumor technique whose only major instrumentation requirement capillary electrophoresis-automated DNA sequencer. In chapter, we will assay current high-throughput during transition pathology genomic era.