Rapid targeted mutational analysis of human tumours: a clinical platform to guide personalized cancer medicine
作者： Dora Dias‐Santagata , Sara Akhavanfard , Serena S. David , Kathy Vernovsky , Georgiana Kuhlmann
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摘要: Targeted cancer therapy requires the rapid and accurate identification of genetic abnormalities predictive therapeutic response. We sought to develop a high-throughput genotyping platform that would allow prospective patient selection best available therapies, could readily inexpensively be adopted by most clinical laboratories. developed highly sensitive multiplexed assay performs very well with nucleic acid derived from formalin fixation paraffin embedding (FFPE) tissue, tests for 120 previously described mutations in 13 genes. Genetic profiling 250 primary tumours was consistent documented oncogene mutational spectrum identified rare events some types. The is currently being used testing tumour samples contributing management. This work therefore establishes real-time targeted can widely adopted. expect efforts like this one will play an increasingly important role
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