2021
Sequential filtering for clinically relevant variants as a method for clinical interpretation of whole exome sequencing findings in glioma
Ülgen E, Can Ö, Bilguvar K, Akyerli Boylu C, Kılıçturgay Yüksel Ş, Erşen Danyeli A, Sezerman OU, Yakıcıer MC, Pamir MN, Özduman K. Sequential filtering for clinically relevant variants as a method for clinical interpretation of whole exome sequencing findings in glioma. BMC Medical Genomics 2021, 14: 54. PMID: 33622343, PMCID: PMC7903763, DOI: 10.1186/s12920-021-00904-3.Peer-Reviewed Original ResearchConceptsTumor mutational burdenSomatic copy number alterationsWhole-exome sequencing findingsMicrosatellite instabilityGermline variantsClinical interpretationIndividual brain tumorsShort variantRecurrent tumorsMSI incidenceMutational burdenBrain tumorsLoss of heterozygosityPathway enrichment analysisPrimary gliomasClinical settingTumorsWES analysisCopy number alterationsTumor samplesSequencing findingsDiffuse gliomasClinical analysisGliomasChr10 loss
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