2021
Environmental and sex-specific molecular signatures of glioma causation
Claus EB, Cannataro VL, Gaffney SG, Townsend JP. Environmental and sex-specific molecular signatures of glioma causation. Neuro-Oncology 2021, 24: 29-36. PMID: 33942853, PMCID: PMC8730771, DOI: 10.1093/neuonc/noab103.Peer-Reviewed Original ResearchConceptsIDH wild-type tumorsWild-type tumorsEnvironmental risk factorsIDH-mutant tumorsRisk factorsCases of gliomaMolecular signaturesPIK3CA mutationsPossible risk exposuresMutation subtypesCancer effectsExogenous exposureAdult gliomasTumorsWhole-exome sequencing dataGliomasKinase domainMutational signaturesCancer-causing mutationsMalesFemalesNon-coding regionsPIK3R1SexCancer mutational signatures
2019
Longitudinal molecular trajectories of diffuse glioma in adults
Barthel FP, Johnson KC, Varn FS, Moskalik AD, Tanner G, Kocakavuk E, Anderson KJ, Abiola O, Aldape K, Alfaro KD, Alpar D, Amin SB, Ashley DM, Bandopadhayay P, Barnholtz-Sloan JS, Beroukhim R, Bock C, Brastianos PK, Brat DJ, Brodbelt AR, Bruns AF, Bulsara KR, Chakrabarty A, Chakravarti A, Chuang JH, Claus EB, Cochran EJ, Connelly J, Costello JF, Finocchiaro G, Fletcher MN, French PJ, Gan HK, Gilbert MR, Gould PV, Grimmer MR, Iavarone A, Ismail A, Jenkinson MD, Khasraw M, Kim H, Kouwenhoven MCM, LaViolette PS, Li M, Lichter P, Ligon KL, Lowman AK, Malta TM, Mazor T, McDonald KL, Molinaro AM, Nam DH, Nayyar N, Ng HK, Ngan CY, Niclou SP, Niers JM, Noushmehr H, Noorbakhsh J, Ormond DR, Park CK, Poisson LM, Rabadan R, Radlwimmer B, Rao G, Reifenberger G, Sa JK, Schuster M, Shaw BL, Short SC, Smitt PAS, Sloan AE, Smits M, Suzuki H, Tabatabai G, Van Meir EG, Watts C, Weller M, Wesseling P, Westerman BA, Widhalm G, Woehrer A, Yung WKA, Zadeh G, Huse JT, De Groot JF, Stead LF, Verhaak RGW. Longitudinal molecular trajectories of diffuse glioma in adults. Nature 2019, 576: 112-120. PMID: 31748746, PMCID: PMC6897368, DOI: 10.1038/s41586-019-1775-1.Peer-Reviewed Original ResearchConceptsAdult patientsDiffuse gliomasRecurrent gliomaOverall survivalPoor outcomeCurrent therapiesChromosome arms 1p/19qAcquired alterationsMajor subtypesTherapeutic resistanceGliomasGlioma developmentGene alterationsIDH mutationsGlioma subtypesPatientsHypermutator phenotypeDriver genesSubtypesClinical annotationSurvivalSubclonal selectionCell cycleAlterationsLittle evidenceEPID-23. PURSUIT OF AN INTERNATIONAL LANGUAGE OF GLIOMA RESEARCH: COMMON DATA ELEMENTS FOR THE LONGITUDINAL STUDY OF ADULT MALIGNANT GLIOMA
Poisson L, Kouwenhoven M, Snyder J, Alfaro-Munoz K, Kaur M, Bates A, Verhaak R, Watts C, Zadeh G, Ormond D, Claus E, Khasraw M. EPID-23. PURSUIT OF AN INTERNATIONAL LANGUAGE OF GLIOMA RESEARCH: COMMON DATA ELEMENTS FOR THE LONGITUDINAL STUDY OF ADULT MALIGNANT GLIOMA. Neuro-Oncology 2019, 21: vi79-vi79. PMCID: PMC6847827, DOI: 10.1093/neuonc/noz175.323.Peer-Reviewed Original ResearchAdult malignant gliomasCommon data elementsMalignant gliomasGlioma researchRetrospective chart abstractionLongitudinal studySmall patient populationMulti-center collaborationResearch Electronic Data Capture (REDCap) systemChart abstractionPatient demographicsClinical courseClinical featuresOngoing trialsClinical variablesPatient populationUncommon cancerMedical historyClinical dataTranslational studiesGlioma Longitudinal Analysis ConsortiumClinical standardsMultidisciplinary expertsConfirmatory studiesGliomas
2015
Survival and low-grade glioma: the emergence of genetic information.
Claus EB, Walsh KM, Wiencke JK, Molinaro AM, Wiemels JL, Schildkraut JM, Bondy ML, Berger M, Jenkins R, Wrensch M. Survival and low-grade glioma: the emergence of genetic information. Neurosurgical FOCUS 2015, 38: e6. PMID: 25552286, PMCID: PMC4361022, DOI: 10.3171/2014.10.focus12367.Peer-Reviewed Original ResearchConceptsLow-grade gliomasHigh-grade gliomasLGG patientsRefining risk stratificationEnd Results ProgramUniformly fatal diseaseRole of tumorNational Cancer InstituteOverall survivalYounger patientsRisk stratificationClinical variablesResults ProgramClinical managementClinical trialsSuch tumorsCurrent treatmentSurvival trendsTumor markersBetter survivalCancer InstitutePatientsFatal diseaseGliomasTumor expression profiles
2014
Germline Mutations in Shelterin Complex Genes Are Associated With Familial Glioma
Bainbridge MN, Armstrong GN, Gramatges MM, Bertuch AA, Jhangiani SN, Doddapaneni H, Lewis L, Tombrello J, Tsavachidis S, Liu Y, Jalali A, Plon SE, Lau CC, Parsons DW, Claus EB, Barnholtz-Sloan J, Il’yasova D, Schildkraut J, Ali-Osman F, Sadetzki S, Johansen C, Houlston RS, Jenkins RB, Lachance D, Olson SH, Bernstein JL, Merrell RT, Wrensch MR, Walsh KM, Davis FG, Lai R, Shete S, Aldape K, Amos CI, Thompson PA, Muzny DM, Gibbs RA, Melin BS, Bondy ML, Consortium T. Germline Mutations in Shelterin Complex Genes Are Associated With Familial Glioma. Journal Of The National Cancer Institute 2014, 107: dju384. PMID: 25482530, PMCID: PMC4296199, DOI: 10.1093/jnci/dju384.Peer-Reviewed Original ResearchConceptsShelterin complex genesDNA bindingComplex genesFamilial gliomaWhole-exome sequencingPOT1 mutationsCommon brain tumorTreatment of gliomaGenetic contributionAdditional mutationsOrigin of gliomasMutationsPOT1TPP1Exome sequencingHistological subtypesMalignancy gradeSeparate cohortBrain tumorsSpecific subtypesFuture diagnosticsGermline mutationsGliomasFamilySubtypes
2007
GLIOGENE—an International Consortium to Understand Familial Glioma
Malmer B, Adatto P, Armstrong G, Barnholtz-Sloan J, Bernstein JL, Claus E, Davis F, Houlston R, Il'yasova D, Jenkins R, Johansen C, Lai R, Lau C, McCarthy B, Nielsen H, Olson SH, Sadetzki S, Shete S, Wiklund F, Wrensch M, Yang P, Bondy M. GLIOGENE—an International Consortium to Understand Familial Glioma. Cancer Epidemiology Biomarkers & Prevention 2007, 16: 1730-1734. PMID: 17855690, DOI: 10.1158/1055-9965.epi-07-0081.Peer-Reviewed Original ResearchConceptsNew genomic regionsGlioma familiesSingle nucleotide polymorphism (SNP) approachFamilial gliomaGenomic regionsGlioma genesLinkage analysisGenesPolymorphism approachLinkage studiesInternational ConsortiumNorth AmericaFamilyLi-Fraumeni syndromeFamilial aggregationDevastating cancerLociTurcot syndromeGenetic syndromesConsortiumGliomagenesisInherited factorsType 1GliomasTuberous sclerosis