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

Gerlinger, Marco ; Horswell, Stuart ; Larkin, James ; Rowan, Andrew J ; Salm, Max P ; Varela, Ignacio ; Fisher, Rosalie ; McGranahan, Nicholas ; Matthews, Nicholas ; Santos, Claudio R ; Martinez, Pierre ; Phillimore, Benjamin ; Begum, Sharmin ; Rabinowitz, Adam ; Spencer-Dene, Bradley ; Gulati, Sakshi ; Bates, Paul A ; Stamp, Gordon ; Pickering, Lisa ; Gore, Martin ; Nicol, David L ; Hazell, Steven ; Futreal, P Andrew ; Stewart, Aengus ; Swanton, Charles

Nature genetics, 2014-03, Vol.46 (3), p.225-233 [Periódico revisado por pares]

United States: Nature Publishing Group

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Título:
Genomic architecture and evolution of clear cell renal cell carcinomas defined by multiregion sequencing
Autor: Gerlinger, Marco ; Horswell, Stuart ; Larkin, James ; Rowan, Andrew J ; Salm, Max P ; Varela, Ignacio ; Fisher, Rosalie ; McGranahan, Nicholas ; Matthews, Nicholas ; Santos, Claudio R ; Martinez, Pierre ; Phillimore, Benjamin ; Begum, Sharmin ; Rabinowitz, Adam ; Spencer-Dene, Bradley ; Gulati, Sakshi ; Bates, Paul A ; Stamp, Gordon ; Pickering, Lisa ; Gore, Martin ; Nicol, David L ; Hazell, Steven ; Futreal, P Andrew ; Stewart, Aengus ; Swanton, Charles
Assuntos: Acquisitions & mergers ; Architecture ; Biomarkers ; Biomedical research ; Biopsy ; Cancer ; Carcinoma, Renal cell ; Carcinoma, Renal Cell - genetics ; Class I Phosphatidylinositol 3-Kinases ; CpG Islands ; Disease Progression ; DNA Copy Number Variations ; DNA methylation ; DNA-Binding Proteins ; Evolution, Molecular ; Exome ; Exome sequencing ; Gene expression ; Genetic aspects ; Genetic research ; Genomics ; High-Throughput Nucleotide Sequencing ; Histone-Lysine N-Methyltransferase - genetics ; Humans ; Kidney Neoplasms - genetics ; Medical research ; Methods ; Mutation ; Nuclear Proteins - genetics ; Phosphatidylinositol 3-Kinases - genetics ; Phylogenetics ; Phylogeny ; Polymorphism, Single Nucleotide ; Studies ; Transcription Factors - genetics ; Tumor Suppressor Proteins - genetics ; Tumors ; Ubiquitin Thiolesterase - genetics ; Von Hippel-Lindau Tumor Suppressor Protein - genetics
É parte de: Nature genetics, 2014-03, Vol.46 (3), p.225-233
Notas: ObjectType-Article-1
SourceType-Scholarly Journals-1
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AUTHOR CONTRIBUTIONS
M. Gerlinger, J.L. and C.S. designed the study. R.F., L.P., M. Gore, D.L.N. and J.L. provided clinical specimens. M. Gerlinger, A.J.R. and R.F. processed the samples. G.S., B.S.-D. and S. Hazell performed histopathological analyses. N. Matthews, B.P., S.B., A.J.R. and A.R. sequenced the samples. S. Horswell, I.V., N. McGranahan, M.P.S., P.M., S.G., P.A.B., A.S. and M. Gerlinger performed bioinformatics analyses. B.S.-D. processed histological samples, which were analyzed by G.S. and S. Horswell. M. Gerlinger, N. McGranahan and C.R.S. analyzed all data. M. Gerlinger, N. McGranahan, C.R.S., P.A.F., J.L. and C.S. interpreted the data. M. Gerlinger, N. McGranahan, C.R.S. and C.S. wrote the manuscript. All authors read and approved the final manuscript.
Descrição: 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.
Editor: United States: Nature Publishing Group
Idioma: Inglês

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

United States: Nature Publishing Group

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