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 evidenceLack of association between modifiable exposures and glioma risk: a Mendelian randomization analysis
Saunders CN, Cornish AJ, Kinnersley B, Law PJ, Claus EB, Il’yasova D, Schildkraut J, Barnholtz-Sloan JS, Olson SH, Bernstein JL, Lai RK, Chanock S, Rajaraman P, Johansen C, Jenkins RB, Melin BS, Wrensch MR, Sanson M, Bondy ML, Houlston RS. Lack of association between modifiable exposures and glioma risk: a Mendelian randomization analysis. Neuro-Oncology 2019, 22: 207-215. PMID: 31665421, PMCID: PMC7442418, DOI: 10.1093/neuonc/noz209.Peer-Reviewed Original ResearchConceptsDensity lipoprotein cholesterolGlioma riskLipoprotein cholesterolRisk factorsHigh-density lipoprotein cholesterolLow-density lipoprotein cholesterolMultiple potential risk factorsInsulin-like growth factor-1Modifiable risk factorsSystolic blood pressureBody mass indexPotential risk factorsSerum immunoglobulin E.Body fat percentageGrowth factor-1Risk of gliomaFatty acid levelsLack of associationMendelian randomisation analysisBlood pressureTotal cholesterolWaist circumferenceHemoglobin levelsInflammatory factorsMass indexGlioma risk associated with extent of estimated European genetic ancestry in African Americans and Hispanics
Ostrom QT, Egan KM, Nabors LB, Gerke T, Thompson RC, Olson JJ, LaRocca R, Chowdhary S, Eckel‐Passow J, Armstrong G, Wiencke JK, Bernstein JL, Claus EB, Il'yasova D, Johansen C, Lachance DH, Lai RK, Merrell RT, Olson SH, Sadetzki S, Schildkraut JM, Shete S, Houlston RS, Jenkins RB, Wrensch MR, Melin B, Amos CI, Huse JT, Barnholtz‐Sloan J, Bondy ML. Glioma risk associated with extent of estimated European genetic ancestry in African Americans and Hispanics. International Journal Of Cancer 2019, 146: 739-748. PMID: 30963577, PMCID: PMC6785354, DOI: 10.1002/ijc.32318.Peer-Reviewed Original ResearchTranscriptome-wide association study identifies new candidate susceptibility genes for glioma
Atkins I, Kinnersley B, Ostrom QT, Labreche K, Il'yasova D, Armstrong GN, Eckel-Passow JE, Schoemaker MJ, Nöthen MM, Barnholtz-Sloan JS, Swerdlow AJ, Simon M, Rajaraman P, Chanock SJ, Shildkraut J, Bernstein JL, Hoffmann P, Jöckel KH, Lai RK, Claus EB, Olson SH, Johansen C, Wrensch MR, Melin B, Jenkins RB, Sanson M, Bondy ML, Houlston RS. Transcriptome-wide association study identifies new candidate susceptibility genes for glioma. Cancer Research 2019, 79: canres.2888.2018. PMID: 30709929, PMCID: PMC6522343, DOI: 10.1158/0008-5472.can-18-2888.Peer-Reviewed Original ResearchConceptsGenome-wide association studiesTranscriptome-wide association studyNovel risk lociRisk lociAssociation studiesCausal genesGenotype-Tissue Expression project dataNew candidate susceptibility genesGlioma risk variantsGWAS-identified variantsGWAS summary statisticsGlioma risk lociBonferroni-corrected significance levelCandidate susceptibility genesGWAS lociNew genesNovel lociGene expressionGenesLociSusceptibility variantsSusceptibility genesRisk variantsGlioma tumorigenesisNon-GBM tumorsAspirin, Non-Steroidal Anti-Inflammatory Drugs (NSAIDs), and Glioma Risk: Original Data from the Glioma International Case-Control Study and a Meta-Analysis
Amirian ES, Ostrom QT, Armstrong GN, Lai RK, Gu X, Jacobs DI, Jalali A, Claus EB, Barnholtz-Sloan JS, Il'yasova D, Schildkraut JM, Ali-Osman F, Sadetzki S, Jenkins RB, Lachance DH, Olson SH, Bernstein JL, Merrell RT, Wrensch MR, Johansen C, Houlston RS, Scheurer ME, Shete S, Amos CI, Melin B, Bondy ML. Aspirin, Non-Steroidal Anti-Inflammatory Drugs (NSAIDs), and Glioma Risk: Original Data from the Glioma International Case-Control Study and a Meta-Analysis. Cancer Epidemiology Biomarkers & Prevention 2019, 28: cebp.0702.2018. PMID: 30482874, PMCID: PMC6401283, DOI: 10.1158/1055-9965.epi-18-0702.Peer-Reviewed Original Research
2018
Glioma through the looking GLASS: molecular evolution of diffuse gliomas and the Glioma Longitudinal Analysis Consortium
Aldape K, Amin SB, Ashley DM, Barnholtz-Sloan JS, Bates AJ, Beroukhim R, Bock C, Brat DJ, Claus EB, Costello JF, de Groot JF, Finocchiaro G, French PJ, Gan HK, Griffith B, Herold-Mende CC, Horbinski C, Iavarone A, Kalkanis SN, Karabatsou K, Kim H, Kouwenhoven MCM, McDonald KL, Miletic H, Nam DH, Ng HK, Niclou SP, Noushmehr H, Ormond D, Poisson LM, Reifenberger G, Roncaroli F, K J, Smitt P, Smits M, Souza CF, Tabatabai G, Van Meir EG, Verhaak RGW, Watts C, Wesseling P, Woehrer A, Yung WKA, Jungk C, Hau AC, van Dyck E, Westerman BA, Yin J, Abiola O, Zeps N, Grimmond S, Buckland M, Khasraw M, Sulman EP, Muscat AM, Stead L. Glioma through the looking GLASS: molecular evolution of diffuse gliomas and the Glioma Longitudinal Analysis Consortium. Neuro-Oncology 2018, 20: 873-884. PMID: 29432615, PMCID: PMC6280138, DOI: 10.1093/neuonc/noy020.Peer-Reviewed Original ResearchConceptsGlioma Longitudinal Analysis ConsortiumMolecular evolutionAnalysis ConsortiumEvolution of gliomasLethal phenotypeCancer Genome AtlasEpigenetic abnormalitiesTargetable vulnerabilitiesGenome AtlasSomatic alterationsDiverse groupCurrent knowledgeAdult diffuse gliomasComprehensive understandingDiffuse gliomasKnowledge gapsEssential insightsEvolutionMolecular subtypesConsortiumPhenotype
2015
The Glioma International Case-Control Study: A Report From the Genetic Epidemiology of Glioma International Consortium
Amirian ES, Armstrong GN, Zhou R, Lau CC, Claus EB, Barnholtz-Sloan JS, 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, Davis FG, Lai R, Shete S, Amos CI, Scheurer ME, Aldape K, Alafuzoff I, Brännström T, Broholm H, Collins P, Giannini C, Rosenblum M, Tihan T, Melin BS, Bondy ML. The Glioma International Case-Control Study: A Report From the Genetic Epidemiology of Glioma International Consortium. American Journal Of Epidemiology 2015, 183: 85-91. PMID: 26656478, PMCID: PMC4706682, DOI: 10.1093/aje/kwv235.Peer-Reviewed Original ResearchConceptsInternational case-control studyCase-control studyGlioma studiesGlioma International Case-Control StudyFatal brain cancerGenetic epidemiologyEtiological factorsBlood samplesGene-environment interactionsRetrospective exposure assessmentTumor subtypesBrain cancerMultiple data collection sitesSmall sample sizeBiospecimen collectionExposure assessmentInternational ConsortiumEpidemiologyCommon protocolSample sizeData collection sitesSurvival 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
2012
Insight in glioma susceptibility through an analysis of 6p22.3, 12p13.33-12.1, 17q22-23.2 and 18q23 SNP genotypes in familial and non-familial glioma
Liu Y, Melin BS, Rajaraman P, Wang Z, Linet M, Shete S, Amos CI, Lau CC, Scheurer ME, Tsavachidis S, Armstrong GN, Houlston RS, Hosking FJ, Claus EB, Barnholtz-Sloan J, Lai R, Il’yasova D, Schildkraut J, Sadetzki S, Johansen C, Bernstein JL, Olson SH, Jenkins RB, LaChance D, Vick NA, Wrensch M, Davis F, McCarthy BJ, Andersson U, Thompson PA, Chanock S, The Gliogene Consortium, Bondy ML. Insight in glioma susceptibility through an analysis of 6p22.3, 12p13.33-12.1, 17q22-23.2 and 18q23 SNP genotypes in familial and non-familial glioma. Human Genetics 2012, 131: 1507-1517. PMID: 22688887, PMCID: PMC3604903, DOI: 10.1007/s00439-012-1187-x.Peer-Reviewed Original Research
2011
Genome-Wide High-Density SNP Linkage Search for Glioma Susceptibility Loci: Results from the Gliogene Consortium
Shete S, Lau CC, Houlston RS, Claus EB, Barnholtz-Sloan J, Lai R, Il'yasova D, Schildkraut J, Sadetzki S, Johansen C, Bernstein JL, Olson SH, Jenkins RB, Yang P, Vick NA, Wrensch M, Davis FG, McCarthy BJ, Leung EH, Davis C, Cheng R, Hosking FJ, Armstrong GN, Liu Y, Yu RK, Henriksson R, Consortium T, Melin BS, Bondy ML. Genome-Wide High-Density SNP Linkage Search for Glioma Susceptibility Loci: Results from the Gliogene Consortium. Cancer Research 2011, 71: 7568-7575. PMID: 22037877, PMCID: PMC3242820, DOI: 10.1158/0008-5472.can-11-0013.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAdultAgedBrain NeoplasmsChildChromosome MappingFamily HealthFemaleGenetic HeterogeneityGenetic Predisposition to DiseaseGenome, HumanGenome-Wide Association StudyGenotypeGliomaHumansLinkage DisequilibriumLod ScoreMaleMiddle AgedPedigreePolymorphism, Single NucleotideUnited StatesYoung Adult
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