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Cited by 1,208

The DOI matches its Crossref record; 8 of the 8 references it cites were found in a registry or an index.

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

Open access
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·2014·Nature Genetics

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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Metadata

Authors
Gerlinger, M., Horswell, S., Larkin, J., Rowan, A. J., Salm, M. P., Varela, I., Fisher, R., McGranahan, N., Matthews, N., Santos, C. R., Martinez, P., Phillimore, B., Begum, S., Rabinowitz, A., Spencer-Dene, B., Gulati, S., Bates, P. A., Stamp, G., Pickering, L., Gore, M., Nicol, D. L., Hazell, S., Futreal, P. A., Stewart, A., & Swanton, C.
Venue
Nature Genetics
Published
2014-02-02
Volume
46
Issue
3
Pages
225-233
ISSN
  • 1061-4036 (ISSN-L)
  • 1546-1718
OpenAlex
W1968657935
Cited by
1,208
References
8
FWCI
47.33
Type
journal article
Language
en
Open access
green

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CoChat. (2026). Citation check: Genomic architecture and evolution of clear cell renal cell carcinomas defined by multiregion sequencing. https://app.cochat.ai/papers/10.1038/ng.2891
The paper
Gerlinger, M., Horswell, S., Larkin, J., Rowan, A. J., Salm, M. P., Varela, I., Fisher, R., McGranahan, N., Matthews, N., Santos, C. R., Martinez, P., Phillimore, B., Begum, S., Rabinowitz, A., Spencer-Dene, B., Gulati, S., Bates, P. A., Stamp, G., Pickering, L., . . . Swanton, C. (2014). Genomic architecture and evolution of clear cell renal cell carcinomas defined by multiregion sequencing. Nature Genetics. https://doi.org/10.1038/ng.2891

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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).

Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.