A Comprehensive Analysis Of Molecular Profiles Across Over 10,000 Tumor And Germ-Line Exomes Across More Than 20 Tumor Types: Novel Mechanisms And Targets For Clinical Treatment.

JOURNAL OF CLINICAL ONCOLOGY(2014)

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11031 Background: Whereas the clinical world is familiar with genomic assays targeted to a limited number of mutations as a means to derive molecular insight to therapies, the power to deliver more comprehensive, non-assumptive, and stochastic molecular analysis is now available to guide treatment decision that is unbiased to traditional tissue-by-tissue assignment of therapeutics or a priori assumptions that a few hundred DNA mutations are drivers of the cancer. Methods: Over 10,000 tumor and germ line exomes and RNA-seq data representing over 5,000 patients across more than 20 tumor types were processed using Contrastor, a cancer genome differentiation algorithm designed to detect variants (germline and somatic), copy-number alterations (overall and allele-specific), and genomic rearrangements. RNA-seq data was used to confirm the presence of alterations in the transcript when available. Paradigm, an algorithm that integrates genomic and transcriptomics data and designed to identify key altered cell sig...
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tumor types,molecular profiles,germ-line
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