IDH-mutant glioma specific association of rs55705857 located at 8q24.21 involves MYC deregulation
Oktay Y, Ülgen E, Can Ö, Akyerli CB, Yüksel Ş, Erdemgil Y, Durası İ, Henegariu OI, Nanni EP, Selevsek N, Grossmann J, Erson-Omay EZ, Bai H, Gupta M, Lee W, Turcan Ş, Özpınar A, Huse JT, Sav MA, Flanagan A, Günel M, Sezerman OU, Yakıcıer MC, Pamir MN, Özduman K. IDH-mutant glioma specific association of rs55705857 located at 8q24.21 involves MYC deregulation. Scientific Reports 2016, 6: 27569. PMID: 27282637, PMCID: PMC4901315, DOI: 10.1038/srep27569.Peer-Reviewed Original ResearchMeSH KeywordsAdultAgedAllelesBiomarkers, TumorFemaleGene Expression Regulation, NeoplasticGenetic Association StudiesGenetic Predisposition to DiseaseGliomaHumansIsocitrate DehydrogenaseKaplan-Meier EstimateMaleMiddle AgedMutationNeoplasm GradingNeoplasm ProteinsPolymorphism, Single NucleotideProteomicsProto-Oncogene Proteins c-mycSequence Analysis, RNAConceptsCase-control studySubtype-specific differencesMYC deregulationSystemic cancerCNS tumorsHealthy controlsAllele carriersLC-MS/MS comparisonModulatory effectsCartilaginous tumorsControl studyPositive modulationUnderlying causeGliomasIDH-mutant gliomasObserved associationsGlioma developmentSomatic mutationsDriver genesAssociationRs55705857RNA sequencingMolecular mechanismsSpecific associationMYC promoterA patient with a novel homozygous missense mutation in FTO and concomitant nonsense mutation in CETP
Çağlayan AO, Tüysüz B, Coşkun S, Quon J, Harmancı AS, Baranoski JF, Baran B, Erson-Omay EZ, Henegariu O, Mane SM, Bilgüvar K, Yasuno K, Günel M. A patient with a novel homozygous missense mutation in FTO and concomitant nonsense mutation in CETP. Journal Of Human Genetics 2016, 61: 395-403. PMID: 26740239, PMCID: PMC4880488, DOI: 10.1038/jhg.2015.160.Peer-Reviewed Original ResearchMeSH KeywordsAlpha-Ketoglutarate-Dependent Dioxygenase FTOApoptosisBiopsyChild, PreschoolCholesterol Ester Transfer ProteinsComputational BiologyConsanguinityDNA Copy Number VariationsDNA Mutational AnalysisExomeFemaleGene ExpressionGene Expression ProfilingGenetic Association StudiesGenotypeHigh-Throughput Nucleotide SequencingHomozygoteHumansMutation, MissensePhenotypeTranscriptome