Prospective Enterprise-Level Molecular Genotyping of a Cohort of Cancer Patients Laura E. MacConaill, Elizabeth Garcia, Priyanka Shivdasani, Matthew Ducar,

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Presentation transcript:

Prospective Enterprise-Level Molecular Genotyping of a Cohort of Cancer Patients Laura E. MacConaill, Elizabeth Garcia, Priyanka Shivdasani, Matthew Ducar, Ravali Adusumilli, Marc Breneiser, Mark Byrne, Lawrence Chung, Jodie Conneely, Lauren Crosby, Levi A. Garraway, Xin Gong, William C. Hahn, Charlie Hatton, Philip W. Kantoff, Michael Kluk, Frank Kuo, Yonghui Jia, Ruchi Joshi, Janina Longtine, Allison Manning, Emanuele Palescandolo, Nematullah Sharaf, Lynette Sholl, Paul van Hummelen, Jacqueline Wade, Bruce M. Wollinson, Dimity Zepf, Barrett J. Rollins, Neal I. Lindeman The Journal of Molecular Diagnostics Volume 16, Issue 6, Pages 660-672 (November 2014) DOI: 10.1016/j.jmoldx.2014.06.004 Copyright © 2014 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions

Figure 1 Technical and bioinformatics steps in the clinical diagnostics pipeline. The timeline from receipt of specimen to generation of a report is 3 to 4 weeks. hMe, homogenous mass-extend; QC, quality control. The Journal of Molecular Diagnostics 2014 16, 660-672DOI: (10.1016/j.jmoldx.2014.06.004) Copyright © 2014 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions

Figure 2 Incidence of mutations by gene in our cancer cohort. Of the 2890 mutations detected in 5118 patients, approximately 19% were KRAS mutations, followed by PIK3CA (17% of mutations), TP53 (11%), and BRAF (7%). The Journal of Molecular Diagnostics 2014 16, 660-672DOI: (10.1016/j.jmoldx.2014.06.004) Copyright © 2014 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions

Figure 3 Landscape of mutations by gene in our cancer cohort. The frequency of gene mutation (normalized by the number of samples in each category) is indicated on the y axis, genes mutated on the x axis, and cancer type on the z axis. GI, gastrointestinal. The Journal of Molecular Diagnostics 2014 16, 660-672DOI: (10.1016/j.jmoldx.2014.06.004) Copyright © 2014 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions