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dc.contributor.authorCajuso, Tatiana
dc.contributor.authorSulo, Päivi
dc.contributor.authorTanskanen, Tomas
dc.contributor.authorKatainen, Riku
dc.contributor.authorTaira, Aurora
dc.contributor.authorHänninen, Ulrika A.
dc.contributor.authorKondelin, Johanna
dc.contributor.authorForsström, Linda
dc.contributor.authorVälimäki, Niko
dc.contributor.authorAavikko, Mervi
dc.contributor.authorKaasinen, Eevi
dc.contributor.authorRistimäki, Ari
dc.contributor.authorKoskensalo, Selja
dc.contributor.authorLepistö, Anna
dc.contributor.authorRenkonen-Sinisalo, Laura
dc.contributor.authorSeppälä, Toni
dc.contributor.authorKuopio, Teijo
dc.contributor.authorBöhm, Jan
dc.contributor.authorMecklin, Jukka-Pekka
dc.contributor.authorKilpivaara, Outi
dc.contributor.authorPitkänen, Esa
dc.contributor.authorPalin, Kimmo
dc.contributor.authorAaltonen, Lauri A.
dc.date.accessioned2019-09-12T10:18:29Z
dc.date.available2019-09-12T10:18:29Z
dc.date.issued2019
dc.identifier.citationCajuso, T., Sulo, P., Tanskanen, T., Katainen, R., Taira, A., Hänninen, U. A., Kondelin, J., Forsström, L., Välimäki, N., Aavikko, M., Kaasinen, E., Ristimäki, A., Koskensalo, S., Lepistö, A., Renkonen-Sinisalo, L., Seppälä, T., Kuopio, T., Böhm, J., Mecklin, J.-P., . . . Aaltonen, L. A. (2019). Retrotransposon insertions can initiate colorectal cancer and are associated with poor survival. <i>Nature Communications</i>, <i>10</i>. https://doi.org/10.1038/s41467-019-11770-0
dc.identifier.otherCONVID_32781740
dc.identifier.urihttps://jyx.jyu.fi/handle/123456789/65493
dc.description.abstractGenomic instability pathways in colorectal cancer (CRC) have been extensively studied, but the role of retrotransposition in colorectal carcinogenesis remains poorly understood. Although retrotransposons are usually repressed, they become active in several human cancers, in particular those of the gastrointestinal tract. Here we characterize retrotransposon insertions in 202 colorectal tumor whole genomes and investigate their associations with molecular and clinical characteristics. We find highly variable retrotransposon activity among tumors and identify recurrent insertions in 15 known cancer genes. In approximately 1% of the cases we identify insertions in APC, likely to be tumor-initiating events. Insertions are positively associated with the CpG island methylator phenotype and the genomic fraction of allelic imbalance. Clinically, high number of insertions is independently associated with poor disease-specific survival.en
dc.format.mimetypeapplication/pdf
dc.languageeng
dc.publisherNature Publishing Group
dc.relation.ispartofseriesNature Communications
dc.rightsCC BY 4.0
dc.titleRetrotransposon insertions can initiate colorectal cancer and are associated with poor survival
dc.typearticle
dc.identifier.urnURN:NBN:fi:jyu-201909124137
dc.contributor.laitosLiikuntatieteellinen tiedekuntafi
dc.contributor.laitosBio- ja ympäristötieteiden laitosfi
dc.contributor.laitosFaculty of Sport and Health Sciencesen
dc.contributor.laitosDepartment of Biological and Environmental Scienceen
dc.contributor.oppiaineBiologiafi
dc.contributor.oppiaineBiologyen
dc.type.urihttp://purl.org/eprint/type/JournalArticle
dc.description.reviewstatuspeerReviewed
dc.relation.issn2041-1723
dc.relation.volume10
dc.type.versionpublishedVersion
dc.rights.copyright© The Authors 2019
dc.rights.accesslevelopenAccessfi
dc.subject.ysotransposonit
dc.subject.ysogenomiikka
dc.subject.ysosuolistosyövät
dc.subject.ysosyöpägeenit
dc.format.contentfulltext
jyx.subject.urihttp://www.yso.fi/onto/yso/p27134
jyx.subject.urihttp://www.yso.fi/onto/yso/p5146
jyx.subject.urihttp://www.yso.fi/onto/yso/p25845
jyx.subject.urihttp://www.yso.fi/onto/yso/p23580
dc.rights.urlhttps://creativecommons.org/licenses/by/4.0/
dc.relation.datasethttps://doi.org/10.5281/zenodo.3241399
dc.relation.doi10.1038/s41467-019-11770-0
jyx.fundinginformationThis work was supported by grants from the Academy of Finland (Finnish Center of Excellence Program 2012–2017, 250345 and 2018–2025, 312041), The Finnish Cancer Society, The European Research Council (268648), The Sigrid Juselius Foundation; Jane and Aatos Erkko Foundation, the Nordic Information for Action eScience Center (NIASC) and Nordic Center of Excellence financed by NordForsk (Project number 62721). We also thank SYSCOL (an EU FP7 Collaborative Project, 258236) for sequencing the RNA samples. The following foundations are acknowledged for personal funding: Ida Montinin Säätio foundation, Cancer Society of Finland, Juhani Ahon Foundation for Medical Research and The Maud Kuistila Memorial Foundation. The authors wish to acknowledge CSC-IT Center for Science, Finland, for computational resources.


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