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dc.contributor.authorKondelin, Johanna
dc.contributor.authorMartin, Samantha
dc.contributor.authorKatainen, Riku
dc.contributor.authorRenkonen‐Sinisalo, Laura
dc.contributor.authorLepistö, Anna
dc.contributor.authorKoskensalo, Selja
dc.contributor.authorBöhm, Jan
dc.contributor.authorMecklin, Jukka‐Pekka
dc.contributor.authorCajuso, Tatiana
dc.contributor.authorHänninen, Ulrika A.
dc.contributor.authorVälimäki, Niko
dc.contributor.authorRavantti, Janne
dc.contributor.authorRajamäki, Kristiina
dc.contributor.authorPalin, Kimmo
dc.contributor.authorAaltonen, Lauri A.
dc.date.accessioned2021-05-20T10:44:08Z
dc.date.available2021-05-20T10:44:08Z
dc.date.issued2021
dc.identifier.citationKondelin, J., Martin, S., Katainen, R., Renkonen‐Sinisalo, L., Lepistö, A., Koskensalo, S., Böhm, J., Mecklin, J., Cajuso, T., Hänninen, U. A., Välimäki, N., Ravantti, J., Rajamäki, K., Palin, K., & Aaltonen, L. A. (2021). No evidence of EMAST in whole genome sequencing data from 248 colorectal cancers. <i>Genes, Chromosomes and Cancer</i>, <i>60</i>(7), 463-473. <a href="https://doi.org/10.1002/gcc.22941" target="_blank">https://doi.org/10.1002/gcc.22941</a>
dc.identifier.otherCONVID_51354269
dc.identifier.urihttps://jyx.jyu.fi/handle/123456789/75793
dc.description.abstractMicrosatellite instability (MSI) is caused by defective DNA mismatch repair (MMR), and manifests as accumulation of small insertions and deletions (indels) in short tandem repeats of the genome. Another form of repeat instability, elevated microsatellite alterations at selected tetranucleotide repeats (EMAST), has been suggested to occur in 50‐60% of CRCs, of which approximately one quarter are accounted for by MSI. Unlike for MSI, the criteria for defining EMAST is not consensual. EMAST CRCs have been suggested to form a distinct subset of CRCs that has been linked to a higher tumour stage, chronic inflammation, and poor prognosis. EMAST CRCs not exhibiting MSI have been proposed to show instability of di‐ and trinucleotide repeats in addition to tetranucleotide repeats, but lack instability of mononucleotide repeats. However, previous studies on EMAST have been based on targeted analysis of small sets of marker repeats, often in relatively few samples. To gain insight into tetranucleotide instability on a genome‐wide level, we utilised whole genome sequencing data from 227 microsatellite stable (MSS) CRCs, 18 MSI CRCs, 3 POLE‐mutated CRCs, and their corresponding normal samples. As expected, we observed tetranucleotide instability in all MSI CRCs, accompanied by instability of mono‐, di‐ and trinucleotide repeats. Among MSS CRCs, some tumours displayed more microsatellite mutations than others as a continuum, and no distinct subset of tumours with the previously proposed molecular characters of EMAST could be observed. Our results suggest that tetranucleotide repeat mutations in non‐MSI CRCs represent stochastic mutation events rather than define a distinct CRC subclass.en
dc.format.mimetypeapplication/pdf
dc.language.isoeng
dc.publisherJohn Wiley & Sons
dc.relation.ispartofseriesGenes, Chromosomes and Cancer
dc.rightsCC BY-NC-ND 4.0
dc.subject.othergenome sequencing data
dc.subject.othercolorectal cancers
dc.titleNo evidence of EMAST in whole genome sequencing data from 248 colorectal cancers
dc.typearticle
dc.identifier.urnURN:NBN:fi:jyu-202105203055
dc.contributor.laitosLiikuntatieteellinen tiedekuntafi
dc.contributor.laitosFaculty of Sport and Health Sciencesen
dc.type.urihttp://purl.org/eprint/type/JournalArticle
dc.type.coarhttp://purl.org/coar/resource_type/c_2df8fbb1
dc.description.reviewstatuspeerReviewed
dc.format.pagerange463-473
dc.relation.issn1045-2257
dc.relation.numberinseries7
dc.relation.volume60
dc.type.versionpublishedVersion
dc.rights.copyright© 2021 The Authors. Genes, Chromosomes & Cancer published by Wiley Periodicals LLC.
dc.rights.accesslevelopenAccessfi
dc.subject.ysomikrosatelliitit
dc.subject.ysoDNA-analyysi
dc.subject.ysosuolistosyövät
dc.subject.ysosyöpätaudit
dc.format.contentfulltext
jyx.subject.urihttp://www.yso.fi/onto/yso/p12287
jyx.subject.urihttp://www.yso.fi/onto/yso/p25695
jyx.subject.urihttp://www.yso.fi/onto/yso/p25845
jyx.subject.urihttp://www.yso.fi/onto/yso/p678
dc.rights.urlhttps://creativecommons.org/licenses/by-nc-nd/4.0/
dc.relation.doi10.1002/gcc.22941
dc.type.okmA1


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