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    Genomic architecture and evolution of clear cell renal cell carcinomas defined by multiregion sequencing

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    GenomicArchitecture.pdf (2.344Mb)
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    URI: http://hdl.handle.net/10902/9690
    DOI: 10.1038/ng.2891
    ISSN: 1061-4036
    ISSN: 1546-1718
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    Author
    Gerlinger, Marco; Horswell, Stuart; Larkin, James; Rowan, Andrew J; Salm, Max P; Varela Egocheaga, IgnacioAutoridad Unican; Fisher, Rosalie; McGranahan, Nicholas; Matthews, Nicholas; Santos, Claudio R; Martínez, Pierre; Phillimore, Benjamin; Begum, Sharmin; Rabinowitz, Adam; Spencer-Dene, Bradley; Gulati, Sakshi; Bates, Paul A; Stamp, Gordon; Pickering, Lisa; [et al.]
    Date
    2014
    Publicado en
    Nat Genet. 2014 Mar;46(3):225-33
    Abstract:
    Clear cell renal carcinomas (ccRCCs) can display intratumor heterogeneity (ITH). We applied multiregion exome sequencing (M-seq) to resolve the genetic architecture and evolutionary histories of ten ccRCCs. Ultra-deep sequencing identified ITH in all cases. We found that 73–75% of identified ccRCC driver aberrations were subclonal, confounding estimates of driver mutation prevalence. ITH increased with the number of biopsies analyzed, without evidence of saturation in most tumors. Chromosome 3p loss and VHL aberrations were the only ubiquitous events. The proportion of C>T transitions at CpG sites increased during tumor progression. M-seq permits the temporal resolution of ccRCC evolution and refines mutational signatures occurring during tumor development.
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    UNIVERSIDAD DE CANTABRIA

    Repositorio realizado por la Biblioteca Universitaria utilizando DSpace software
    Contact Us | Send Feedback
    Metadatos sujetos a:licencia de Creative Commons Reconocimiento 3.0 España