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

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  <identifier identifierType="URL">https://aperta.ulakbim.gov.tr/record/59661</identifier>
  <creators>
    <creator>
      <creatorName>Oktay, Yavuz</creatorName>
      <givenName>Yavuz</givenName>
      <familyName>Oktay</familyName>
    </creator>
    <creator>
      <creatorName>Ulgen, Ege</creatorName>
      <givenName>Ege</givenName>
      <familyName>Ulgen</familyName>
      <affiliation>Acibadem Univ, Brain Tumor Res Grp, Istanbul, Turkey</affiliation>
    </creator>
    <creator>
      <creatorName>Can, Ozge</creatorName>
      <givenName>Ozge</givenName>
      <familyName>Can</familyName>
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    <creator>
      <creatorName>Akyerli, Cemaliye B.</creatorName>
      <givenName>Cemaliye B.</givenName>
      <familyName>Akyerli</familyName>
    </creator>
    <creator>
      <creatorName>Yuksel, Sirin</creatorName>
      <givenName>Sirin</givenName>
      <familyName>Yuksel</familyName>
    </creator>
    <creator>
      <creatorName>Erdemgil, Yigit</creatorName>
      <givenName>Yigit</givenName>
      <familyName>Erdemgil</familyName>
      <affiliation>Acibadem Univ, Brain Tumor Res Grp, Istanbul, Turkey</affiliation>
    </creator>
    <creator>
      <creatorName>Durasi, I. Melis</creatorName>
      <givenName>I. Melis</givenName>
      <familyName>Durasi</familyName>
      <affiliation>Sabanci Univ, Fac Engn &amp; Nat Sci, Dept Biol Sci &amp; Bioengn, Istanbul, Turkey</affiliation>
    </creator>
    <creator>
      <creatorName>Henegariu, Octavian Ioan</creatorName>
      <givenName>Octavian Ioan</givenName>
      <familyName>Henegariu</familyName>
      <affiliation>Yale Univ, Sch Med, Dept Neurosurg, New Haven, CT 06504 USA</affiliation>
    </creator>
    <creator>
      <creatorName>Nanni, E. Paolo</creatorName>
      <givenName>E. Paolo</givenName>
      <familyName>Nanni</familyName>
      <affiliation>UZH ETH, Funct Genom Ctr Zurich, Zurich, Switzerland</affiliation>
    </creator>
    <creator>
      <creatorName>Selevsek, Nathalie</creatorName>
      <givenName>Nathalie</givenName>
      <familyName>Selevsek</familyName>
      <affiliation>UZH ETH, Funct Genom Ctr Zurich, Zurich, Switzerland</affiliation>
    </creator>
    <creator>
      <creatorName>Grossmann, Jonas</creatorName>
      <givenName>Jonas</givenName>
      <familyName>Grossmann</familyName>
      <affiliation>UZH ETH, Funct Genom Ctr Zurich, Zurich, Switzerland</affiliation>
    </creator>
    <creator>
      <creatorName>Erson-Omay, E. Zeynep</creatorName>
      <givenName>E. Zeynep</givenName>
      <familyName>Erson-Omay</familyName>
      <affiliation>Yale Univ, Sch Med, Dept Neurosurg, New Haven, CT 06504 USA</affiliation>
    </creator>
    <creator>
      <creatorName>Bai, Hanwen</creatorName>
      <givenName>Hanwen</givenName>
      <familyName>Bai</familyName>
      <affiliation>Yale Univ, Sch Med, Dept Neurosurg, New Haven, CT 06504 USA</affiliation>
    </creator>
    <creator>
      <creatorName>Gupta, Manu</creatorName>
      <givenName>Manu</givenName>
      <familyName>Gupta</familyName>
      <affiliation>UCL, Canc Inst, 72 Huntley St, London WC1E 6DD, England</affiliation>
    </creator>
    <creator>
      <creatorName>Lee, William</creatorName>
      <givenName>William</givenName>
      <familyName>Lee</familyName>
      <affiliation>Mem Sloan Kettering Canc Ctr, Dept Radiat Oncol, New York, NY 10065 USA</affiliation>
    </creator>
    <creator>
      <creatorName>Turcan, Sevin</creatorName>
      <givenName>Sevin</givenName>
      <familyName>Turcan</familyName>
      <affiliation>Mem Sloan Kettering Canc Ctr, Human Oncol &amp; Pathogenesis Program, New York, NY 10065 USA</affiliation>
    </creator>
    <creator>
      <creatorName>Ozpinar, Aysel</creatorName>
      <givenName>Aysel</givenName>
      <familyName>Ozpinar</familyName>
    </creator>
    <creator>
      <creatorName>Huse, Jason T.</creatorName>
      <givenName>Jason T.</givenName>
      <familyName>Huse</familyName>
      <affiliation>Mem Sloan Kettering Canc Ctr, Dept Pathol, New York, NY 10065 USA</affiliation>
    </creator>
    <creator>
      <creatorName>Sav, M. Aydin</creatorName>
      <givenName>M. Aydin</givenName>
      <familyName>Sav</familyName>
    </creator>
    <creator>
      <creatorName>Flanagan, Adrienne</creatorName>
      <givenName>Adrienne</givenName>
      <familyName>Flanagan</familyName>
      <affiliation>UCL, Canc Inst, 72 Huntley St, London WC1E 6DD, England</affiliation>
    </creator>
    <creator>
      <creatorName>Flanagan, Adrienne</creatorName>
      <givenName>Adrienne</givenName>
      <familyName>Flanagan</familyName>
      <affiliation>UCL, Canc Inst, 72 Huntley St, London WC1E 6DD, England</affiliation>
    </creator>
  </creators>
  <titles>
    <title>Idh-Mutant Glioma Specific Association Of Rs55705857 Located At 8Q24.21 Involves Myc Deregulation</title>
  </titles>
  <publisher>Aperta</publisher>
  <publicationYear>2016</publicationYear>
  <dates>
    <date dateType="Issued">2016-01-01</date>
  </dates>
  <resourceType resourceTypeGeneral="Text">Journal article</resourceType>
  <alternateIdentifiers>
    <alternateIdentifier alternateIdentifierType="url">https://aperta.ulakbim.gov.tr/record/59661</alternateIdentifier>
  </alternateIdentifiers>
  <relatedIdentifiers>
    <relatedIdentifier relatedIdentifierType="DOI" relationType="IsIdenticalTo">10.1038/srep27569</relatedIdentifier>
  </relatedIdentifiers>
  <rightsList>
    <rights rightsURI="http://www.opendefinition.org/licenses/cc-by">Creative Commons Attribution</rights>
    <rights rightsURI="info:eu-repo/semantics/openAccess">Open Access</rights>
  </rightsList>
  <descriptions>
    <description descriptionType="Abstract">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.</description>
  </descriptions>
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