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

MARC21 XML

<?xml version='1.0' encoding='UTF-8'?>
<record xmlns="http://www.loc.gov/MARC21/slim">
  <leader>00000nam##2200000uu#4500</leader>
  <datafield tag="245" ind1=" " ind2=" ">
    <subfield code="a">IDH-mutant glioma specific association of rs55705857 located at 8q24.21 involves MYC deregulation</subfield>
  </datafield>
  <datafield tag="909" ind1="C" ind2="4">
    <subfield code="p">SCIENTIFIC REPORTS</subfield>
    <subfield code="v">6</subfield>
  </datafield>
  <controlfield tag="001">59661</controlfield>
  <datafield tag="980" ind1=" " ind2=" ">
    <subfield code="a">user-tubitak-destekli-proje-yayinlari</subfield>
  </datafield>
  <datafield tag="520" ind1=" " ind2=" ">
    <subfield code="a">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.</subfield>
  </datafield>
  <datafield tag="650" ind1="1" ind2="7">
    <subfield code="2">opendefinition.org</subfield>
    <subfield code="a">cc-by</subfield>
  </datafield>
  <datafield tag="700" ind1=" " ind2=" ">
    <subfield code="u">Acibadem Univ, Brain Tumor Res Grp, Istanbul, Turkey</subfield>
    <subfield code="a">Ulgen, Ege</subfield>
  </datafield>
  <datafield tag="700" ind1=" " ind2=" ">
    <subfield code="a">Can, Ozge</subfield>
  </datafield>
  <datafield tag="700" ind1=" " ind2=" ">
    <subfield code="a">Akyerli, Cemaliye B.</subfield>
  </datafield>
  <datafield tag="700" ind1=" " ind2=" ">
    <subfield code="a">Yuksel, Sirin</subfield>
  </datafield>
  <datafield tag="700" ind1=" " ind2=" ">
    <subfield code="u">Acibadem Univ, Brain Tumor Res Grp, Istanbul, Turkey</subfield>
    <subfield code="a">Erdemgil, Yigit</subfield>
  </datafield>
  <datafield tag="700" ind1=" " ind2=" ">
    <subfield code="u">Sabanci Univ, Fac Engn &amp; Nat Sci, Dept Biol Sci &amp; Bioengn, Istanbul, Turkey</subfield>
    <subfield code="a">Durasi, I. Melis</subfield>
  </datafield>
  <datafield tag="700" ind1=" " ind2=" ">
    <subfield code="u">Yale Univ, Sch Med, Dept Neurosurg, New Haven, CT 06504 USA</subfield>
    <subfield code="a">Henegariu, Octavian Ioan</subfield>
  </datafield>
  <datafield tag="700" ind1=" " ind2=" ">
    <subfield code="u">UZH ETH, Funct Genom Ctr Zurich, Zurich, Switzerland</subfield>
    <subfield code="a">Nanni, E. Paolo</subfield>
  </datafield>
  <datafield tag="700" ind1=" " ind2=" ">
    <subfield code="u">UZH ETH, Funct Genom Ctr Zurich, Zurich, Switzerland</subfield>
    <subfield code="a">Selevsek, Nathalie</subfield>
  </datafield>
  <datafield tag="700" ind1=" " ind2=" ">
    <subfield code="u">UZH ETH, Funct Genom Ctr Zurich, Zurich, Switzerland</subfield>
    <subfield code="a">Grossmann, Jonas</subfield>
  </datafield>
  <datafield tag="700" ind1=" " ind2=" ">
    <subfield code="u">Yale Univ, Sch Med, Dept Neurosurg, New Haven, CT 06504 USA</subfield>
    <subfield code="a">Erson-Omay, E. Zeynep</subfield>
  </datafield>
  <datafield tag="700" ind1=" " ind2=" ">
    <subfield code="u">Yale Univ, Sch Med, Dept Neurosurg, New Haven, CT 06504 USA</subfield>
    <subfield code="a">Bai, Hanwen</subfield>
  </datafield>
  <datafield tag="700" ind1=" " ind2=" ">
    <subfield code="u">UCL, Canc Inst, 72 Huntley St, London WC1E 6DD, England</subfield>
    <subfield code="a">Gupta, Manu</subfield>
  </datafield>
  <datafield tag="700" ind1=" " ind2=" ">
    <subfield code="u">Mem Sloan Kettering Canc Ctr, Dept Radiat Oncol, New York, NY 10065 USA</subfield>
    <subfield code="a">Lee, William</subfield>
  </datafield>
  <datafield tag="700" ind1=" " ind2=" ">
    <subfield code="u">Mem Sloan Kettering Canc Ctr, Human Oncol &amp; Pathogenesis Program, New York, NY 10065 USA</subfield>
    <subfield code="a">Turcan, Sevin</subfield>
  </datafield>
  <datafield tag="700" ind1=" " ind2=" ">
    <subfield code="a">Ozpinar, Aysel</subfield>
  </datafield>
  <datafield tag="700" ind1=" " ind2=" ">
    <subfield code="u">Mem Sloan Kettering Canc Ctr, Dept Pathol, New York, NY 10065 USA</subfield>
    <subfield code="a">Huse, Jason T.</subfield>
  </datafield>
  <datafield tag="700" ind1=" " ind2=" ">
    <subfield code="a">Sav, M. Aydin</subfield>
  </datafield>
  <datafield tag="700" ind1=" " ind2=" ">
    <subfield code="u">UCL, Canc Inst, 72 Huntley St, London WC1E 6DD, England</subfield>
    <subfield code="a">Flanagan, Adrienne</subfield>
  </datafield>
  <datafield tag="700" ind1=" " ind2=" ">
    <subfield code="u">UCL, Canc Inst, 72 Huntley St, London WC1E 6DD, England</subfield>
    <subfield code="a">Flanagan, Adrienne</subfield>
  </datafield>
  <datafield tag="980" ind1=" " ind2=" ">
    <subfield code="b">article</subfield>
    <subfield code="a">publication</subfield>
  </datafield>
  <datafield tag="542" ind1=" " ind2=" ">
    <subfield code="l">open</subfield>
  </datafield>
  <datafield tag="100" ind1=" " ind2=" ">
    <subfield code="a">Oktay, Yavuz</subfield>
  </datafield>
  <datafield tag="260" ind1=" " ind2=" ">
    <subfield code="c">2016-01-01</subfield>
  </datafield>
  <controlfield tag="005">20210316004826.0</controlfield>
  <datafield tag="909" ind1="C" ind2="O">
    <subfield code="o">oai:zenodo.org:59661</subfield>
    <subfield code="p">user-tubitak-destekli-proje-yayinlari</subfield>
  </datafield>
  <datafield tag="856" ind1="4" ind2=" ">
    <subfield code="z">md5:5891e5b92c9294b8eff16ced5ddc52f7</subfield>
    <subfield code="s">376</subfield>
    <subfield code="u">https://aperta.ulakbim.gov.trrecord/59661/files/bib-42931afa-7610-4e2e-8d45-55edd1af5eac.txt</subfield>
  </datafield>
  <datafield tag="540" ind1=" " ind2=" ">
    <subfield code="u">http://www.opendefinition.org/licenses/cc-by</subfield>
    <subfield code="a">Creative Commons Attribution</subfield>
  </datafield>
  <datafield tag="024" ind1=" " ind2=" ">
    <subfield code="a">10.1038/srep27569</subfield>
    <subfield code="2">doi</subfield>
  </datafield>
</record>