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Genomics and clinical correlates of renal cell carcinoma.

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cam.issuedOnline2018-08-11
dc.contributor.authorMitchell, Thomas J
dc.contributor.authorRossi, Sabrina H
dc.contributor.authorKlatte, Tobias
dc.contributor.authorStewart, Grant D
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.date.accessioned2018-11-10T00:30:18Z
dc.date.available2018-11-10T00:30:18Z
dc.date.issued2018-12
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.identifier.doi10.17863/CAM.32266
dc.identifier.eissn1433-8726
dc.identifier.issn0724-4983
dc.identifier.urihttps://www.repository.cam.ac.uk/handle/1810/284896
dc.languageeng
dc.language.isoeng
dc.publisherSpringer Science and Business Media LLC
dc.publisher.urlhttp://dx.doi.org/10.1007/s00345-018-2429-x
dc.rightsAttribution 4.0 International
dc.rights.urihttps://creativecommons.org/licenses/by/4.0/
dc.subjectEvolution
dc.subjectGenomics
dc.subjectMutations
dc.subjectPrognosis
dc.subjectRenal cancer
dc.subjectTherapy
dc.subjectCarcinoma, Renal Cell
dc.subjectDNA-Binding Proteins
dc.subjectGenomics
dc.subjectHistone-Lysine N-Methyltransferase
dc.subjectHumans
dc.subjectKidney Neoplasms
dc.subjectMutation
dc.subjectNuclear Proteins
dc.subjectPTEN Phosphohydrolase
dc.subjectTelomerase
dc.subjectTranscription Factors
dc.subjectTumor Suppressor Protein p53
dc.subjectTumor Suppressor Proteins
dc.subjectUbiquitin Thiolesterase
dc.subjectVon Hippel-Lindau Tumor Suppressor Protein
dc.titleGenomics and clinical correlates of renal cell carcinoma.
dc.typeArticle
dcterms.dateAccepted2018-07-31
prism.endingPage1911
prism.issueIdentifier12
prism.publicationDate2018
prism.publicationNameWorld J Urol
prism.startingPage1899
prism.volume36
rioxxterms.licenseref.startdate2018-12
rioxxterms.licenseref.urihttp://www.rioxx.net/licenses/all-rights-reserved
rioxxterms.typeJournal Article/Review
rioxxterms.versionVoR
rioxxterms.versionofrecord10.1007/s00345-018-2429-x

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