Profiling Critical Cancer Gene Mutations in Clinical Tumor Samples

摘要: Background: Detection of critical cancer gene mutations in clinical tumor specimens may predict patient outcomes and inform treatment options; however, high-throughput mutation profiling remains underdeveloped as a diagnostic approach. We report the implementation genotyping validation algorithm that enables robust setting. Methodology: developed implemented an optimized platform (‘‘OncoMap’’) to interrogate ,400 33 known oncogenes suppressors, many which are response or resistance targeted therapies. The performance OncoMap was analyzed using DNA derived from both frozen FFPE material diverse set types. A subsequent in-depth analysis conducted on histologically clinically annotated pediatric gliomas. sensitivity specificity were 93.8% 100% fresh tissue; 89.3% 99.4% FFPE-derived DNA. detected at expected frequencies common cancers, well novel adult cancers likely heightened existing developmental profiles also support new molecular stratification low-grade gliomas based BRAF have immediate impact. Conclusions: Our results demonstrate feasibility query large panel ‘‘actionable’’ mutations. In future, this type approach be incorporated into epidemiologic studies decision making specify use anticancer agents.