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dc.contributor.authorKondelin, Johanna
dc.contributor.authorSalokas, Kari
dc.contributor.authorSaarinen, Lilli
dc.contributor.authorOvaska, Kristian
dc.contributor.authorRauanheimo, Heli
dc.contributor.authorPlaketti, Roosa-Maria
dc.contributor.authorHamberg, Jiri
dc.contributor.authorLiu, Xiaonan
dc.contributor.authorYadav, Leena
dc.contributor.authorGylfe, Alexandra E.
dc.contributor.authorCajuso, Tatiana
dc.contributor.authorHänninen, Ulrika A.
dc.contributor.authorPalin, Kimmo
dc.contributor.authorRistolainen, Heikki
dc.contributor.authorKatainen, Riku
dc.contributor.authorKaasinen, Eevi
dc.contributor.authorTanskanen, Tomas
dc.contributor.authorAavikko, Mervi
dc.contributor.authorTaipale, Minna
dc.contributor.authorTaipale, Jussi
dc.contributor.authorRenkonen-Sinisalo, Laura
dc.contributor.authorLepistö, Anna
dc.contributor.authorKoskensalo, Selja
dc.contributor.authorBöhm, Jan
dc.contributor.authorMecklin, Jukka-Pekka
dc.contributor.authorOngen, Halit
dc.contributor.authorDermitzakis, Emmanouil T.
dc.contributor.authorKilpivaara, Outi
dc.contributor.authorVahteristo, Pia
dc.contributor.authorTurunen, Mikko
dc.contributor.authorHautaniemi, Sampsa
dc.contributor.authorTuupanen, Sari
dc.contributor.authorKarhu, Auli
dc.contributor.authorVälimäki, Niko
dc.contributor.authorVarjosalo, Markku
dc.contributor.authorPitkänen, Esa
dc.contributor.authorAaltonen, Lauri A.
dc.date.accessioned2018-08-22T10:36:25Z
dc.date.available2018-08-22T10:36:25Z
dc.date.issued2018
dc.identifier.citationKondelin, J., Salokas, K., Saarinen, L., Ovaska, K., Rauanheimo, H., Plaketti, R.-M., Hamberg, J., Liu, X., Yadav, L., Gylfe, A. E., Cajuso, T., Hänninen, U. A., Palin, K., Ristolainen, H., Katainen, R., Kaasinen, E., Tanskanen, T., Aavikko, M., Taipale, M., . . . Aaltonen, L. A. (2018). Comprehensive evaluation of coding region point mutations in microsatellite-unstable colorectal cancer. <i>EMBO Molecular Medicine</i>, <i>10</i>(8), Article e8552. <a href="https://doi.org/10.15252/emmm.201708552" target="_blank">https://doi.org/10.15252/emmm.201708552</a>
dc.identifier.otherCONVID_28218742
dc.identifier.otherTUTKAID_78569
dc.identifier.urihttps://jyx.jyu.fi/handle/123456789/59309
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.fi
dc.format.mimetypeapplication/pdf
dc.language.isoeng
dc.publisherWiley-Blackwell Publishing Ltd.
dc.relation.ispartofseriesEMBO Molecular Medicine
dc.rightsCC BY 4.0
dc.subject.othercancer genetics
dc.subject.othercolorectal cancer
dc.subject.othermicrosatellite instability
dc.titleComprehensive evaluation of coding region point mutations in microsatellite-unstable colorectal cancer
dc.typearticle
dc.identifier.urnURN:NBN:fi:jyu-201808213897
dc.contributor.laitosLiikuntatieteellinen tiedekuntafi
dc.contributor.laitosFaculty of Sport and Health Sciencesen
dc.type.urihttp://purl.org/eprint/type/JournalArticle
dc.date.updated2018-08-21T12:15:25Z
dc.description.reviewstatuspeerReviewed
dc.relation.issn1757-4676
dc.relation.numberinseries8
dc.relation.volume10
dc.type.versionpublishedVersion
dc.rights.copyright© 2018 the Authors
dc.rights.accesslevelopenAccessfi
dc.subject.ysosyöpägeenit
dc.subject.ysomikrosatelliitit
dc.subject.ysopaksusuolisyöpä
dc.format.contentfulltext
jyx.subject.urihttp://www.yso.fi/onto/yso/p23580
jyx.subject.urihttp://www.yso.fi/onto/yso/p12287
jyx.subject.urihttp://www.yso.fi/onto/yso/p5937
dc.rights.urlhttps://creativecommons.org/licenses/by/4.0/
dc.relation.doi10.15252/emmm.201708552


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