Multiplex Mutation Screening by Mass Spectrometry

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Presentation transcript:

Multiplex Mutation Screening by Mass Spectrometry Carol Beadling, Michael C. Heinrich, Andrea Warrick, Erin M. Forbes, Dylan Nelson, Emily Justusson, Judith Levine, Tanaya L. Neff, Janice Patterson, Ajia Presnell, Arin McKinley, Laura J. Winter, Christie Dewey, Amy Harlow, Oscar Barney, Brian J. Druker, Kathryn G. Schuff, Christopher L. Corless The Journal of Molecular Diagnostics Volume 13, Issue 5, Pages 504-513 (September 2011) DOI: 10.1016/j.jmoldx.2011.04.003 Copyright © 2011 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions

Figure 1 Sensitivity of mass-spectrometry–based mutation detection. A: Specimen with 60% KIT K642E mutant allele frequency was diluted twofold into wild-type DNA, with 10 ng total DNA in each dilution. B: The amount of input DNA was titrated from 20 ng to 0.312 ng. Mutant and wild-type (wt) alleles are indicated by arrows. The Journal of Molecular Diagnostics 2011 13, 504-513DOI: (10.1016/j.jmoldx.2011.04.003) Copyright © 2011 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions

Figure 2 Mutation frequencies for various genes. Mutation frequencies are displayed by gene as the percentage of total cases tested, for urothelial (n = 85), colorectal (n = 236), endometrioid (n = 90), melanoma (n = 164), and thyroid (n = 245) cancers. The Journal of Molecular Diagnostics 2011 13, 504-513DOI: (10.1016/j.jmoldx.2011.04.003) Copyright © 2011 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions

Figure 3 Mutation overlap. Cases in which a single mutation was detected are depicted in black, whereas those with multiple mutations are depicted in red. The Journal of Molecular Diagnostics 2011 13, 504-513DOI: (10.1016/j.jmoldx.2011.04.003) Copyright © 2011 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions

Figure 4 Spectrum of BRAF mutations. Relative frequencies of different BRAF mutations are expressed as the fraction of all BRAF mutations detected in melanoma (n = 73), thyroid (n = 172), and colon (n = 12) cancers. The Journal of Molecular Diagnostics 2011 13, 504-513DOI: (10.1016/j.jmoldx.2011.04.003) Copyright © 2011 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions