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dc.date.accessioned2021-02-28T20:53:32Z
dc.date.available2021-02-28T20:53:32Z
dc.date.created2021-01-29T12:24:21Z
dc.date.issued2020
dc.identifier.citationHoff, Andreas Midbøe Kraggerud, Sigrid M. Alagaratnam, Sharmini Berg, Kaja Christine Graue Johannessen, Bjarne Høland, Maren Nilsen, Gro Lingjærde, Ole Christian Andrews, Peter W. Lothe, Ragnhild A Skotheim, Rolf I. . Frequent copy number gains of SLC2A3 and ETV1 in testicular embryonal carcinomas. Endocrine-Related Cancer. 2020, 27(9), 457-468
dc.identifier.urihttp://hdl.handle.net/10852/83611
dc.description.abstractTesticular germ cell tumours (TGCTs) appear as different histological subtypes or mixtures of these. They show similar, multiple DNA copy number changes, where gain of 12p is pathognomonic. However, few high-resolution analyses have been performed and focal DNA copy number changes with corresponding candidate target genes remain poorly described for individual subtypes. We present the first high-resolution DNA copy number aberration (CNA) analysis on the subtype embryonal carcinomas (ECs), including 13 primary ECs and 5 EC cell lines. We identified recurrent gains and losses and allele-specific CNAs. Within these regions, we nominate 30 genes that may be of interest to the EC subtype. By in silico analysis of data from 150 TGCTs from The Cancer Genome Atlas (TCGA), we further investigated CNAs, RNA expression, somatic mutations and fusion transcripts of these genes. Among primary ECs, ploidy ranged between 2.3 and 5.0, and the most common aberrations were DNA copy number gains at chromosome (arm) 7, 8, 12p, and 17, losses at 4, 10, 11, and 18, replicating known TGCT genome characteristics. Gain of whole or parts of 12p was found in all samples, including a highly amplified 100 kbp segment at 12p13.31, containing SLC2A3. Gain at 7p21, encompassing ETV1 , was the second most frequent aberration. In conclusion, we present novel CNAs and the genes located within these regions, where the copy number gain of SLC2A3 and ETV1 are of interest, and which copy number levels also correlate with expression in TGCTs.
dc.languageEN
dc.rightsAttribution 4.0 International
dc.rights.urihttps://creativecommons.org/licenses/by/4.0/
dc.titleFrequent copy number gains of SLC2A3 and ETV1 in testicular embryonal carcinomas
dc.typeJournal article
dc.creator.authorHoff, Andreas Midbøe
dc.creator.authorKraggerud, Sigrid M.
dc.creator.authorAlagaratnam, Sharmini
dc.creator.authorBerg, Kaja Christine Graue
dc.creator.authorJohannessen, Bjarne
dc.creator.authorHøland, Maren
dc.creator.authorNilsen, Gro
dc.creator.authorLingjærde, Ole Christian
dc.creator.authorAndrews, Peter W.
dc.creator.authorLothe, Ragnhild A
dc.creator.authorSkotheim, Rolf I.
cristin.unitcode185,53,49,12
cristin.unitnameInstitutt for kreftforskning
cristin.ispublishedtrue
cristin.fulltextoriginal
cristin.qualitycode2
dc.identifier.cristin1882304
dc.identifier.bibliographiccitationinfo:ofi/fmt:kev:mtx:ctx&ctx_ver=Z39.88-2004&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.jtitle=Endocrine-Related Cancer&rft.volume=27&rft.spage=457&rft.date=2020
dc.identifier.jtitleEndocrine-Related Cancer
dc.identifier.volume27
dc.identifier.issue9
dc.identifier.startpage457
dc.identifier.endpage468
dc.identifier.doihttps://doi.org/10.1530/ERC-20-0064
dc.identifier.urnURN:NBN:no-86341
dc.subject.nviVDP::Medisinsk genetikk: 714
dc.type.documentTidsskriftartikkel
dc.type.peerreviewedPeer reviewed
dc.source.issn1351-0088
dc.identifier.fulltextFulltext https://www.duo.uio.no/bitstream/handle/10852/83611/2/Frequent%2Bcopy%2Bnumber%2Bgains%2Bof%2BSLC2A3%2Band%2BETV1.pdf
dc.type.versionPublishedVersion
dc.relation.projectKF/PR-2007-0166
dc.relation.projectKF/PR-2006-0442
dc.relation.projectNFR/262529
dc.relation.projectNOTUR/NORSTORE/NS9013K
dc.relation.projectNFR/250993
dc.relation.projectNOTUR/NORSTORE/NS9013S


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