1 Ocak 2016 Dergi makalesi Açık Erişim

Oktay, Yavuz; Ulgen, Ege; Can, Ozge; Akyerli, Cemaliye B.; Yuksel, Sirin; Erdemgil, Yigit; Durasi, I. Melis; Henegariu, Octavian Ioan; Nanni, E. Paolo; Selevsek, Nathalie; Grossmann, Jonas; Erson-Omay, E. Zeynep; Bai, Hanwen; Gupta, Manu; Lee, William; Turcan, Sevin; Ozpinar, Aysel; Huse, Jason T.; Sav, M. Aydin; Flanagan, Adrienne; Flanagan, Adrienne

Dublin Core

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  <dc:creator>Oktay, Yavuz</dc:creator>
  <dc:creator>Ulgen, Ege</dc:creator>
  <dc:creator>Can, Ozge</dc:creator>
  <dc:creator>Akyerli, Cemaliye B.</dc:creator>
  <dc:creator>Yuksel, Sirin</dc:creator>
  <dc:creator>Erdemgil, Yigit</dc:creator>
  <dc:creator>Durasi, I. Melis</dc:creator>
  <dc:creator>Henegariu, Octavian Ioan</dc:creator>
  <dc:creator>Nanni, E. Paolo</dc:creator>
  <dc:creator>Selevsek, Nathalie</dc:creator>
  <dc:creator>Grossmann, Jonas</dc:creator>
  <dc:creator>Erson-Omay, E. Zeynep</dc:creator>
  <dc:creator>Bai, Hanwen</dc:creator>
  <dc:creator>Gupta, Manu</dc:creator>
  <dc:creator>Lee, William</dc:creator>
  <dc:creator>Turcan, Sevin</dc:creator>
  <dc:creator>Ozpinar, Aysel</dc:creator>
  <dc:creator>Huse, Jason T.</dc:creator>
  <dc:creator>Sav, M. Aydin</dc:creator>
  <dc:creator>Flanagan, Adrienne</dc:creator>
  <dc:creator>Flanagan, Adrienne</dc:creator>
  <dc:date>2016-01-01</dc:date>
  <dc:description>The single nucleotide polymorphism rs55705857, located in a non-coding but evolutionarily conserved region at 8q24.21, is strongly associated with IDH-mutant glioma development and was suggested to be a causal variant. However, the molecular mechanism underlying this association has remained unknown. With a case control study in 285 gliomas, 316 healthy controls, 380 systemic cancers, 31 other CNS-tumors, and 120 IDH-mutant cartilaginous tumors, we identified that the association was specific to IDH-mutant gliomas. Odds-ratios were 9.25 (5.17-16.52; 95% CI) for IDH-mutated gliomas and 12.85 (5.94-27.83; 95% CI) for IDH-mutated, 1p/19q co-deleted gliomas. Decreasing strength with increasing anaplasia implied a modulatory effect. No somatic mutations were noted at this locus in 114 blood-tumor pairs, nor was there a copy number difference between risk-allele and only-ancestral allele carriers. CCDC26 RNA-expression was rare and not different between the two groups. There were only minor subtype-specific differences in common glioma driver genes. RNA sequencing and LC-MS/MS comparisons pointed to significantly altered MYC-signaling. Baseline enhancer activity of the conserved region specifically on the MYC promoter and its further positive modulation by the SNP risk-allele was shown in vitro. Our findings implicate MYC deregulation as the underlying cause of the observed association.</dc:description>
  <dc:identifier>https://aperta.ulakbim.gov.trrecord/59661</dc:identifier>
  <dc:identifier>oai:zenodo.org:59661</dc:identifier>
  <dc:rights>info:eu-repo/semantics/openAccess</dc:rights>
  <dc:rights>http://www.opendefinition.org/licenses/cc-by</dc:rights>
  <dc:source>SCIENTIFIC REPORTS 6</dc:source>
  <dc:title>IDH-mutant glioma specific association of rs55705857 located at 8q24.21 involves MYC deregulation</dc:title>
  <dc:type>info:eu-repo/semantics/article</dc:type>
  <dc:type>publication-article</dc:type>
</oai_dc:dc>