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