2018
P04.60 Genomic profile of tumorigenesis in a patient with Turcot syndrome
Karschnia P, Erson-Omay E, Huttner A, Fulbright R, Günel M, Baehring J. P04.60 Genomic profile of tumorigenesis in a patient with Turcot syndrome. Neuro-Oncology 2018, 20: iii293-iii293. PMCID: PMC6143975, DOI: 10.1093/neuonc/noy139.294.Peer-Reviewed Original ResearchWhole-exome sequencingEndometrial carcinomaTurcot syndromeBrain tumorsMicrosatellite instabilityMMR genesSecond hitSomatic missense mutationsMissense mutationsLeft frontal tumorPrimary brain tumorsPatient's brain tumorMismatch repair deficiencyMMR-deficient tumorsExpression of MSH6Heterozygous germline mutationsHeterozygous germline missense mutationRight hemiparesisSubtotal resectionUterine adenocarcinomaMetachronous tumorsFrontal tumorGermline missense mutationAbdominal tumorsFamily history
2017
Longitudinal analysis of treatment-induced genomic alterations in gliomas
Erson-Omay EZ, Henegariu O, Omay SB, Harmancı AS, Youngblood MW, Mishra-Gorur K, Li J, Özduman K, Carrión-Grant G, Clark VE, Çağlar C, Bakırcıoğlu M, Pamir MN, Tabar V, Vortmeyer AO, Bilguvar K, Yasuno K, DeAngelis LM, Baehring JM, Moliterno J, Günel M. Longitudinal analysis of treatment-induced genomic alterations in gliomas. Genome Medicine 2017, 9: 12. PMID: 28153049, PMCID: PMC5290635, DOI: 10.1186/s13073-017-0401-9.Peer-Reviewed Original ResearchMeSH KeywordsAntineoplastic AgentsChromosome AberrationsCombined Modality TherapyDisease ProgressionDNA Mismatch RepairDNA Mutational AnalysisDNA, NeoplasmExomeFemaleGeneral SurgeryGenome, HumanGenomicsGlioblastomaHumansImmunotherapyLongitudinal StudiesMiddle AgedMutationNeoplasm Recurrence, LocalPrecision MedicineRadiotherapyTreatment OutcomeConceptsWhole-exome sequencingMismatch repair deficiencyImmune checkpoint inhibitionMalignant brain tumorsMolecular changesLongitudinal analysisMedian survivalCheckpoint inhibitionSubsequent recurrenceMaximal resectionStandard treatmentBackgroundGlioblastoma multiformeBrain tumorsTumor-normal pairsFavorable responsePrimary GBMIndividual tumorsConclusionsOur studyPrecision therapyPersonalized treatmentGenomic profilingRepair deficiencyGenomic alterationsGenomic profilesTherapy