2020
Germline cancer predisposition variants and pediatric glioma: a population-based study in California
Muskens IS, de Smith AJ, Zhang C, Hansen HM, Morimoto L, Metayer C, Ma X, Walsh KM, Wiemels JL. Germline cancer predisposition variants and pediatric glioma: a population-based study in California. Neuro-Oncology 2020, 22: 864-874. PMID: 31970404, PMCID: PMC7283023, DOI: 10.1093/neuonc/noaa014.Peer-Reviewed Original ResearchConceptsCancer predisposition genesPathogenic germline variantsPathogenic variantsGermline variantsNeurofibromatosis 1Pediatric astrocytomasCandidate cancer predisposition genesPredisposition genesGene burden testingPediatric glioblastomaPediatric cancer predispositionMalignant pediatric brain tumorTertiary referral centerPopulation-based studyPediatric brain tumorsCancer predisposition variantsPediatric glioma patientsRare germline variantsTumor protein 53Whole-exome sequencingExome-wide levelReferral centerAstrocytoma patientsGlioma patientsBrain tumors
2019
HGG-11. GERMLINE GENETIC PREDISPOSITION TO PEDIATRIC GLIOMA
Muskens I, Walsh K, Zhang C, de Smith A, Morimoto L, Ma X, Wiemels J. HGG-11. GERMLINE GENETIC PREDISPOSITION TO PEDIATRIC GLIOMA. Neuro-Oncology 2019, 21: ii89-ii89. PMCID: PMC6477444, DOI: 10.1093/neuonc/noz036.105.Peer-Reviewed Original ResearchPediatric glioma patientsGBM patientsGene burden testingGlioma patientsPediatric gliomasPediatric brain tumorsPathogenic germline mutationsPopulation-based sampling strategyGermline genetic predispositionCancer predisposition genesRare germline variantsWhole-exome sequencingTreatment strategiesPractice guidelinesBest practice guidelinesBrain tumorsGenetic predispositionCancer-related genesPatientsTP53 mutationsTP53 variantsGlioma riskFrameshift mutationBlood spotsNonsense mutation
2018
PDTM-01. GERMLINE GENETIC PREDISPOSITION TO PEDIATRIC GLIOMA
Muskens I, Walsh K, de Smith A, Morimoto L, Metayer C, Ma X, Wiemels J. PDTM-01. GERMLINE GENETIC PREDISPOSITION TO PEDIATRIC GLIOMA. Neuro-Oncology 2018, 20: vi203-vi203. PMCID: PMC6217152, DOI: 10.1093/neuonc/noy148.843.Peer-Reviewed Original ResearchPediatric gliomasGenetic predispositionCancer-related genesReceptor tyrosine kinasesPediatric brain tumorsGermline genetic predispositionHigh-grade gliomasPediatric glioma patientsRare germline variantsWhole-exome sequencingRare germline mutationsExome Aggregation Consortium databaseAstrocytoma patientsGlioma patientsBrain tumorsSpecific receptor tyrosine kinasesGrade gliomasHigh mortalityNerve cellsGermline mutationsGermline variantsGliomasTyrosine kinase proteinTranslational implicationsConsortium database