High-throughput oncogene mutation detection in human cancers by mass spectrometry-based genotyping

A106 Introduction: Translating tumor genetic information into therapeutic benefit remains hampered by a limited knowledge of critical alterations across the spectrum of human tumors, and the inability to identify these on a large scale in the clinical setting.Experimental Procedures: To begin to address these bottlenecks, we applied high-throughput, mass spectrometry-based genotyping (Sequenom, Inc.) to identify 250 known somatic mutations across 17 oncogenes in human cancer samples and cell lines. We then applied this approach to a panel of nearly 1,000 human tumors spanning 15 histologic types.Results: The oncogene genotyping approach enabled sensitive, rapid, and accurate oncogene mutation detection at a low cost per sample. Notably, mutation detection was largely refractory to stromal contamination, detecting somatic alterations present at a frequency of