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
2014
Paediatric hepatocellular carcinoma due to somatic CTNNB1 and NFE2L2 mutations in the setting of inherited bi-allelic ABCB11 mutations
Vilarinho S, Erson-Omay EZ, Harmanci AS, Morotti R, Carrion-Grant G, Baranoski J, Knisely AS, Ekong U, Emre S, Yasuno K, Bilguvar K, Günel M. Paediatric hepatocellular carcinoma due to somatic CTNNB1 and NFE2L2 mutations in the setting of inherited bi-allelic ABCB11 mutations. Journal Of Hepatology 2014, 61: 1178-1183. PMID: 25016225, DOI: 10.1016/j.jhep.2014.07.003.Peer-Reviewed Original ResearchMeSH KeywordsAmino Acid SequenceATP Binding Cassette Transporter, Subfamily B, Member 11ATP-Binding Cassette TransportersBase SequenceBeta CateninCarcinoma, HepatocellularCholestasis, IntrahepaticDNA, NeoplasmFemaleGerm-Line MutationHumansInfantLiver NeoplasmsMolecular Sequence DataMutationMutation, MissenseNF-E2-Related Factor 2Sequence Homology, Amino AcidConceptsBile salt export pumpWhole-exome sequencingHepatocellular carcinomaMonths of ageNFE2L2 mutationsABCB11 mutationsSomatic CTNNB1Background liver parenchymaPediatric hepatocellular carcinomaNew onsetSomatic driver mutationsBSEP expressionLiver parenchymaHCC tissuesHepatocellular carcinogenesisWES analysisExport pumpDriver mutationsCTNNB1 mutationsExome sequencingChild's diagnosisClonality analysisGermline DNAPossible genetic basisEarly childhood