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dc.contributor.authorKondelin, J
dc.contributor.authorSalokas, K
dc.contributor.authorSaarinen, L
dc.contributor.authorOvaska, K
dc.contributor.authorRauanheimo, H
dc.contributor.authorPlaketti, RM
dc.contributor.authorHamberg, J
dc.contributor.authorLiu, X
dc.contributor.authorYadav, L
dc.contributor.authorGylfe, AE
dc.contributor.authorCajuso, T
dc.contributor.authorHänninen, UA
dc.contributor.authorPalin, K
dc.contributor.authorRistolainen, H
dc.contributor.authorKatainen, R
dc.contributor.authorKaasinen, E
dc.contributor.authorTanskanen, T
dc.contributor.authorAavikko, M
dc.contributor.authorTaipale, M
dc.contributor.authorTaipale, J
dc.contributor.authorRenkonen-Sinisalo, L
dc.contributor.authorLepistö, A
dc.contributor.authorKoskensalo, S
dc.contributor.authorBöhm, J
dc.contributor.authorMecklin, JP
dc.contributor.authorOngen, H
dc.contributor.authorDermitzakis, ET
dc.contributor.authorKilpivaara, O
dc.contributor.authorVahteristo, P
dc.contributor.authorTurunen, M
dc.contributor.authorHautaniemi, S
dc.contributor.authorTuupanen, S
dc.contributor.authorKarhu, A
dc.contributor.authorVälimäki, N
dc.contributor.authorVarjosalo, M
dc.contributor.authorPitkänen, E
dc.contributor.authorAaltonen, LA
dc.date.accessioned2018-08-22T12:41:30Z
dc.date.available2018-08-22T12:41:30Z
dc.date.issued2018
dc.identifier.urihttps://erepo.uef.fi/handle/123456789/6842
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.language.isoenglanti
dc.publisherEMBO
dc.relation.ispartofseriesEMBO molecular medicine
dc.relation.urihttp://dx.doi.org/10.15252/emmm.201708552
dc.titleComprehensive evaluation of coding region point mutations in microsatellite-unstable colorectal cancer
dc.description.versionpublished version
dc.contributor.departmentSchool of Medicine / Clinical Medicine
uef.solecris.id56657383en
dc.type.publicationTieteelliset aikakauslehtiartikkelit
dc.rights.accessrights© Authors
dc.relation.doi10.15252/emmm.201708552
dc.description.reviewstatuspeerReviewed
dc.relation.articlenumbere8552
dc.relation.issn1757-4676
dc.relation.volumePublished online 14.08.2018
dc.rights.accesslevelopenAccess
dc.type.okmA1
uef.solecris.openaccessOpen access -julkaisukanavassa ilmestynyt julkaisu


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