2024-03-28T12:15:25Zhttp://digital.csic.es/dspace-oai/requestoai:digital.csic.es:10261/1304422021-12-27T15:58:57Zcom_10261_3284com_10261_1col_10261_3285
2016-03-28T10:01:54Z
urn:hdl:10261/130442
Genomic architecture and evolution of clear cell renal cell carcinomas defined by multiregion sequencing
Gerlinger, Marco
Varela, Ignacio
Swanton, Charles
National Institute for Health Research (UK)
Ministerio de Economía y Competitividad (España)
Rosetrees Trust
Breast Cancer Research Foundation
Royal Marsden NHS Foundation Trust
University College London
Medical Research Council (UK)
Cancer Research UK
European Research Council
European Commission
PMCID: PMC4636053.-- et al.
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.
2016-03-28T10:01:54Z
2016-03-28T10:01:54Z
2014
2016-03-28T10:01:55Z
artículo
Nature Genetics 46(3): 225-233 (2014)
http://hdl.handle.net/10261/130442
10.1038/ng.2891
http://dx.doi.org/10.13039/501100000272
http://dx.doi.org/10.13039/501100003329
http://dx.doi.org/10.13039/501100000833
http://dx.doi.org/10.13039/100001006
http://dx.doi.org/10.13039/501100000765
http://dx.doi.org/10.13039/501100000265
http://dx.doi.org/10.13039/501100000289
http://dx.doi.org/10.13039/501100000781
http://dx.doi.org/10.13039/501100000780
http://dx.doi.org/10.13039/100012139
24487277
eng
Postprint
http://dx.doi.org/10.1038/ng.2891
Sí
info:eu-repo/grantAgreement/EC/H2020/637904
Molecular Characterization of the role of intratumor heterogeneity in cancer progression and metastasis
openAccess
Nature Publishing Group