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dc.contributor.authorKondelin, Johannaen
dc.contributor.authorSalokas, Karien
dc.contributor.authorSaarinen, Lillien
dc.contributor.authorOvaska, Kristianen
dc.contributor.authorRauanheimo, Helien
dc.contributor.authorPlaketti, Roosa-Mariaen
dc.contributor.authorHamberg, Jirien
dc.contributor.authorLiu, Xiaonanen
dc.contributor.authorYadav, Leenaen
dc.contributor.authorGylfe, Alexandra Een
dc.contributor.authorCajuso, Tatianaen
dc.contributor.authorHänninen, Ulrika Aen
dc.contributor.authorPalin, Kimmoen
dc.contributor.authorRistolainen, Heikkien
dc.contributor.authorKatainen, Rikuen
dc.contributor.authorKaasinen, Eevien
dc.contributor.authorTanskanen, Tomasen
dc.contributor.authorAavikko, Mervien
dc.contributor.authorTaipale, Minnaen
dc.contributor.authorTaipale, Anssi Jussi Nikolaien
dc.contributor.authorRenkonen-Sinisalo, Lauraen
dc.contributor.authorLepistö, Annaen
dc.contributor.authorKoskensalo, Seljaen
dc.contributor.authorBöhm, Janen
dc.contributor.authorMecklin, Jukka-Pekkaen
dc.contributor.authorOngen, Haliten
dc.contributor.authorDermitzakis, Emmanouil Ten
dc.contributor.authorKilpivaara, Outien
dc.contributor.authorVahteristo, Piaen
dc.contributor.authorTurunen, Mikkoen
dc.contributor.authorHautaniemi, Sampsaen
dc.contributor.authorTuupanen, Sarien
dc.contributor.authorKarhu, Aulien
dc.contributor.authorVälimäki, Nikoen
dc.contributor.authorVarjosalo, Markkuen
dc.contributor.authorPitkänen, Esaen
dc.contributor.authorAaltonen, Lauri Aen
dc.date.accessioned2019-06-05T23:30:20Z
dc.date.available2019-06-05T23:30:20Z
dc.date.issued2018-09en
dc.identifier.issn1757-4676
dc.identifier.urihttps://www.repository.cam.ac.uk/handle/1810/293417
dc.description.abstractMicrosatellite instability (MSI) leads to accumulation of an excessive number of mutations in the genome, mostly small insertions and deletions. MSI colorectal cancers (CRCs), however, also contain more point mutations than microsatellite-stable (MSS) tumors, yet they have not been as comprehensively studied. To identify candidate driver genes affected by point mutations in MSI CRC, we ranked genes based on mutation significance while correcting for replication timing and gene expression utilizing an algorithm, MutSigCV Somatic point mutation data from the exome kit-targeted area from 24 exome-sequenced sporadic MSI CRCs and respective normals, and 12 whole-genome-sequenced sporadic MSI CRCs and respective normals were utilized. The top 73 genes were validated in 93 additional MSI CRCs. The MutSigCV ranking identified several well-established MSI CRC driver genes and provided additional evidence for previously proposed CRC candidate genes as well as shortlisted genes that have to our knowledge not been linked to CRC before. Two genes, SMARCB1 and STK38L, were also functionally scrutinized, providing evidence of a tumorigenic role, for SMARCB1 mutations in particular.
dc.format.mediumPrinten
dc.languageengen
dc.rightsAttribution 4.0 International
dc.rights.urihttps://creativecommons.org/licenses/by/4.0/
dc.subjectHumansen
dc.subjectColorectal Neoplasmsen
dc.subjectSequence Analysis, DNAen
dc.subjectPoint Mutationen
dc.subjectMicrosatellite Instabilityen
dc.subjectGene Regulatory Networksen
dc.subjectMolecular Sequence Annotationen
dc.titleComprehensive evaluation of coding region point mutations in microsatellite-unstable colorectal cancer.en
dc.typeArticle
prism.issueIdentifier9en
prism.publicationDate2018en
prism.publicationNameEMBO molecular medicineen
prism.volume10en
dc.identifier.doi10.17863/CAM.40569
rioxxterms.versionofrecord10.15252/emmm.201708552en
rioxxterms.versionVoR
rioxxterms.licenseref.urihttp://www.rioxx.net/licenses/all-rights-reserveden
rioxxterms.licenseref.startdate2018-09en
dc.contributor.orcidSalokas, Kari [0000-0002-4471-6698]
dc.contributor.orcidLiu, Xiaonan [0000-0002-9600-0536]
dc.contributor.orcidCajuso, Tatiana [0000-0002-6354-5572]
dc.contributor.orcidHänninen, Ulrika A [0000-0003-1558-0450]
dc.contributor.orcidTaipale, Minna [0000-0002-1905-2551]
dc.contributor.orcidTaipale, Anssi [0000-0003-4204-0951]
dc.contributor.orcidLepistö, Anna [0000-0002-5866-4059]
dc.contributor.orcidMecklin, Jukka-Pekka [0000-0003-4895-2249]
dc.contributor.orcidOngen, Halit [0000-0002-4197-5790]
dc.contributor.orcidHautaniemi, Sampsa [0000-0002-7749-2694]
dc.contributor.orcidKarhu, Auli [0000-0002-7927-0796]
dc.contributor.orcidVarjosalo, Markku [0000-0002-1340-9732]
dc.contributor.orcidPitkänen, Esa [0000-0002-9818-6370]
dc.contributor.orcidAaltonen, Lauri A [0000-0001-6839-4286]
dc.identifier.eissn1757-4684
rioxxterms.typeJournal Article/Reviewen
pubs.funder-project-idWellcome Trust (091310/Z/10/Z)


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