Cancer Science · 2019 · 377 citations · 39 references
MedicineMolecular GeneticsOncologyCancer GeneticsMolecular OncologyNeoplasiaCancer BiomarkersCancer GenomicsCancer Molecular DiagnosticsMalignant NeoplasmsMolecular Tumor ProfilingNext-generation Sequencing In OncologyCancer Gene Panel SequencingCancer Gene Panel TestingClinical Cancer DiagnosisClinical Next-generation SequencingMulti-gene Panel TestingNext-generation Sequencing PanelsTargeted Molecular TherapyTumor Profiling
Next-generation sequencing (NGS) of tumor tissue (ie, clinical sequencing) can guide clinical management by providing information about actionable gene aberrations that have diagnostic and therapeutic significance. Here, we undertook a hospital-based prospective study (TOP-GEAR project, 2nd stage) to investigate the feasibility and utility of NGS-based analysis of 114 cancer-associated genes (the NCC Oncopanel test). We examined 230 cases (comprising more than 30 tumor types) of advanced solid tumors, all of which were matched with nontumor samples. Gene profiling data were obtained for 187 cases (81.3%), 111 (59.4%) of which harbored actionable gene aberrations according to the Clinical Practice Guidelines for Next Generation Sequencing in Cancer Diagnosis and Treatment (Edition 1.0) issued by 3 major Japanese cancer-related societies. Twenty-five (13.3%) cases have since received molecular-targeted therapy according to their gene aberrations. These results indicate the utility of tumor-profiling multiplex gene panel testing in a clinical setting in Japan. This study is registered with UMIN Clinical Trials Registry (UMIN 000011141).
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