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dc.contributor.authorMitchell, Thomas J
dc.contributor.authorRossi, Sabrina H
dc.contributor.authorKlatte, Tobias
dc.contributor.authorStewart, Grant D
dc.date.accessioned2018-11-10T00:30:18Z
dc.date.available2018-11-10T00:30:18Z
dc.date.issued2018-12
dc.identifier.issn0724-4983
dc.identifier.urihttps://www.repository.cam.ac.uk/handle/1810/284896
dc.description.abstractPURPOSE: Clear cell, papillary cell, and chromophobe renal cell carcinomas (RCCs) have now been well characterised thanks to large collaborative projects such as The Cancer Genome Atlas (TCGA). Not only has knowledge of the genomic landscape helped inform the development of new drugs, it also promises to fine tune prognostication. METHODS: A literature review was performed summarising the current knowledge on the genetic basis of RCC. RESULTS: The Von Hippel-Lindau (VHL) tumour suppressor gene undergoes bi-allelic knockout in the vast majority of clear cell RCCs. The next most prevalent aberrations include a cohort of chromatin-modifying genes with diverse roles including PBRM1, SETD2, BAP1, and KMD5C. The most common non-clear cell renal cancers have also undergone genomic profiling and are characterised by distinct genomic landscapes. Many recurrent mutations have prognostic value and show promise in aiding decisions regarding treatment stratification. Intra-tumour heterogeneity appears to hamper the clinical applicability of sparsely sampled tumours. Ways to abrogate heterogeneity will be required to optimise the genomic classification of tumours. CONCLUSION: The somatic mutational landscape of the more common renal cancers is well known. Correlation with outcome needs to be more comprehensively furnished, particularly for small renal masses, rarer non-clear cell renal cancers, and for all tumours undergoing targeted therapy.
dc.format.mediumPrint-Electronic
dc.languageeng
dc.publisherSpringer Science and Business Media LLC
dc.rightsAttribution 4.0 International
dc.rights.urihttps://creativecommons.org/licenses/by/4.0/
dc.subjectHumans
dc.subjectCarcinoma, Renal Cell
dc.subjectKidney Neoplasms
dc.subjectUbiquitin Thiolesterase
dc.subjectHistone-Lysine N-Methyltransferase
dc.subjectTelomerase
dc.subjectDNA-Binding Proteins
dc.subjectTumor Suppressor Proteins
dc.subjectNuclear Proteins
dc.subjectTranscription Factors
dc.subjectGenomics
dc.subjectMutation
dc.subjectTumor Suppressor Protein p53
dc.subjectPTEN Phosphohydrolase
dc.subjectVon Hippel-Lindau Tumor Suppressor Protein
dc.titleGenomics and clinical correlates of renal cell carcinoma.
dc.typeArticle
prism.endingPage1911
prism.issueIdentifier12
prism.publicationDate2018
prism.publicationNameWorld J Urol
prism.startingPage1899
prism.volume36
dc.identifier.doi10.17863/CAM.32266
dcterms.dateAccepted2018-07-31
rioxxterms.versionofrecord10.1007/s00345-018-2429-x
rioxxterms.licenseref.urihttp://www.rioxx.net/licenses/all-rights-reserved
rioxxterms.licenseref.startdate2018-12
dc.contributor.orcidMitchell, Thomas J [0000-0003-0761-9503]
dc.contributor.orcidRossi, Sabrina H [0000-0001-7048-7158]
dc.contributor.orcidKlatte, Tobias [0000-0002-4392-6861]
dc.contributor.orcidStewart, Grant D [0000-0003-3188-9140]
dc.identifier.eissn1433-8726
rioxxterms.typeJournal Article/Review
cam.issuedOnline2018-08-11


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Attribution 4.0 International
Except where otherwise noted, this item's licence is described as Attribution 4.0 International