2020
Mutations and Copy Number Alterations in IDH Wild-Type Glioblastomas Are Shaped by Different Oncogenic Mechanisms
Ülgen E, Karacan S, Gerlevik U, Can Ö, Bilguvar K, Oktay Y, Akyerli C, Yüksel Ş, Danyeli A, Tihan T, Sezerman OU, Yakıcıer MC, Pamir MN, Özduman K. Mutations and Copy Number Alterations in IDH Wild-Type Glioblastomas Are Shaped by Different Oncogenic Mechanisms. Biomedicines 2020, 8: 574. PMID: 33297360, PMCID: PMC7762325, DOI: 10.3390/biomedicines8120574.Peer-Reviewed Original ResearchUnderlying oncogenic mechanismsOncogenic mechanismsNumber alterationsDifferent oncogenic mechanismsDiffuse midline gliomaMismatch repair deficiencySingle nucleotide variationsWhole-exome sequencingIDH wild-type glioblastomaWild-type glioblastomaPrimary tumorMolecular subsetsBlood samplesMidline gliomaAdult diffuse gliomasHeterogenous groupWt glioblastomaCopy number alterationsGliomasRecurrenceExome sequencingDiffuse gliomasRepair deficiencyAlteration frequencyGenomic alterations
2019
Whole exome sequencing-based analysis to identify DNA damage repair deficiency as a major contributor to gliomagenesis in adult diffuse gliomas.
Ülgen E, Can Ö, Bilguvar K, Oktay Y, Akyerli CB, Danyeli AE, Yakıcıer MC, Sezerman OU, Pamir MN, Özduman K. Whole exome sequencing-based analysis to identify DNA damage repair deficiency as a major contributor to gliomagenesis in adult diffuse gliomas. Journal Of Neurosurgery 2019, 132: 1435-1446. PMID: 30952131, DOI: 10.3171/2019.1.jns182938.Peer-Reviewed Original ResearchDNA damage repair deficiencyDiffuse gliomasAdult diffuse gliomasMutational signaturesRepair deficiencyMicrosatellite instability statusSignature 1Mutational loadDDR gene mutationsDDR genesHigh mutational loadCancer Genome AtlasMolecular subsetsBlood samplesMSI statusSomatic mutational signaturesInstability statusSignificant associationLarger studyGlioma developmentTumorsGene mutationsGenome AtlasSignature 3TCGA data
2016
Familial occurrence of brain arteriovenous malformation: a novel ACVRL1 mutation detected by whole exome sequencing.
Yılmaz B, Toktaş ZO, Akakın A, Işık S, Bilguvar K, Kılıç T, Günel M. Familial occurrence of brain arteriovenous malformation: a novel ACVRL1 mutation detected by whole exome sequencing. Journal Of Neurosurgery 2016, 126: 1879-1883. PMID: 27611203, DOI: 10.3171/2016.6.jns16665.Peer-Reviewed Original ResearchConceptsBrain arteriovenous malformationsHereditary hemorrhagic telangiectasiaWhole-exome sequencingArteriovenous malformationsExome sequencingWhole-exome sequencing analysisSpinal arteriovenous malformationsDiagnostic classification schemesExome sequencing analysisComprehensive genomic characterizationConclusion Study resultsCranial MRIDirect Sanger sequencingHemorrhagic telangiectasiaBlood samplesFamilial occurrenceHeterozygous mutationsACVRL1 mutationsPatientsThree SiblingsFourth siblingVariant segregationSanger sequencingMalformationsSiblings