2021
A molecularly integrated grade for meningioma
Driver J, Hoffman SE, Tavakol S, Woodward E, Maury EA, Bhave V, Greenwald NF, Nassiri F, Aldape K, Zadeh G, Choudhury A, Vasudevan HN, Magill ST, Raleigh DR, Abedalthagafi M, Aizer AA, Alexander BM, Ligon KL, Reardon DA, Wen PY, Al-Mefty O, Ligon AH, Dubuc AM, Beroukhim R, Claus EB, Dunn IF, Santagata S, Bi W. A molecularly integrated grade for meningioma. Neuro-Oncology 2021, 24: 796-808. PMID: 34508644, PMCID: PMC9071299, DOI: 10.1093/neuonc/noab213.Peer-Reviewed Original ResearchConceptsMeningioma patientsWHO gradeGrading systemCommon primary intracranial tumorWorld Health Organization gradeProgression-free survivalAdditional prognostic informationPrimary intracranial tumorsCox proportional hazardsGrading schemeTime-dependent areaSurgical resectionChromosomal copy-number dataClinical behaviorHistopathology featuresPrognostic informationPatient managementIntracranial tumorsDiscovery cohortClinical careIndependent cohortMitotic countPatientsProportional hazardsMeningiomas
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 evidence
2018
Genome-wide association analysis identifies a meningioma risk locus at 11p15.5
Claus EB, Cornish AJ, Broderick P, Schildkraut JM, Dobbins SE, Holroyd A, Calvocoressi L, Lu L, Hansen HM, Smirnov I, Walsh KM, Schramm J, Hoffmann P, Nöthen MM, Jöckel KH, Swerdlow A, Larsen SB, Johansen C, Simon M, Bondy M, Wrensch M, Houlston RS, Wiemels JL. Genome-wide association analysis identifies a meningioma risk locus at 11p15.5. Neuro-Oncology 2018, 20: 1485-1493. PMID: 29762745, PMCID: PMC6176799, DOI: 10.1093/neuonc/noy077.Peer-Reviewed Original ResearchMeSH KeywordsAdultAgedBiomarkers, TumorCase-Control StudiesChromosomes, Human, Pair 11FemaleFollow-Up StudiesGenetic LociGenetic Predisposition to DiseaseGenome-Wide Association StudyGenotypeHumansLinkage DisequilibriumMaleMeningeal NeoplasmsMeningiomaMiddle AgedPolymorphism, Single NucleotidePrognosisRisk FactorsYoung AdultConceptsGenome-wide association studiesRisk lociGenome-wide association analysisSusceptibility lociNeural crest-derived structuresSignificant heritable basisNumber of genesIndependent sample seriesNew susceptibility lociHeritable basisGenetic basisGenome ProjectAssociation studiesAssociation analysisLinkage disequilibriumLociMeningioma developmentReference panelPolygenic modelCentral roleUK10K dataAdult brain tumorsRIC8AMeningeal coveringsGenes
2017
Quality of life after surgery for intracranial meningioma
Benz LS, Wrensch MR, Schildkraut JM, Bondy ML, Warren JL, Wiemels JL, Claus EB. Quality of life after surgery for intracranial meningioma. Cancer 2017, 124: 161-166. PMID: 28902404, PMCID: PMC6415762, DOI: 10.1002/cncr.30975.Peer-Reviewed Original ResearchConceptsMedical Outcomes Study Short Form-36 Health SurveyShort Form-36 Health SurveyGeneral healthy populationCase-control studyLong-term qualityCase/control statusResidents of ConnecticutDomains of PhysicalRole PhysicalRole EmotionalInitial diagnosisQOL outcomesHealthy controlsClinical significanceHealth SurveyMeningioma casesIntracranial meningiomasCurrent studyHealthy populationControl statusTelephone interviewsPatientsMental healthMeningiomasSignificant decrease
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 sitesClinical implementation of integrated whole-genome copy number and mutation profiling for glioblastoma
Ramkissoon SH, Bi WL, Schumacher SE, Ramkissoon LA, Haidar S, Knoff D, Dubuc A, Brown L, Burns M, Cryan JB, Abedalthagafi M, Kang YJ, Schultz N, Reardon DA, Lee EQ, Rinne ML, Norden AD, Nayak L, Ruland S, Doherty LM, LaFrankie DC, Horvath M, Aizer AA, Russo A, Arvold ND, Claus EB, Al-Mefty O, Johnson MD, Golby AJ, Dunn IF, Chiocca EA, Trippa L, Santagata S, Folkerth RD, Kantoff P, Rollins BJ, Lindeman NI, Wen PY, Ligon AH, Beroukhim R, Alexander BM, Ligon KL. Clinical implementation of integrated whole-genome copy number and mutation profiling for glioblastoma. Neuro-Oncology 2015, 17: 1344-1355. PMID: 25754088, PMCID: PMC4578577, DOI: 10.1093/neuonc/nov015.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAdultAgedAged, 80 and overBrain NeoplasmsChildChild, PreschoolComparative Genomic HybridizationDNA Copy Number VariationsFemaleGene Expression ProfilingGenome-Wide Association StudyGenotypeGlioblastomaHumansInfantIsocitrate DehydrogenaseMaleMiddle AgedMutationProspective StudiesPTEN PhosphohydrolaseTumor Suppressor Protein p53Young AdultConceptsClinical trialsBrain tumorsGlioblastoma patientsClinical settingClinical Laboratory Improvement AmendmentsParaffin-embedded samplesWhole-genome array comparative genomic hybridizationWhole gene sequencingTherapeutic trialsWhole-genome copy numberClinical testing resultsPatientsClinical diagnosisMutation profilingIntegral biomarkerArray comparative genomic hybridizationGlioblastomaClinical implementationTrialsComparative genomic hybridizationTumor suppressor inactivationCopy numberTumorsFFPE samplesDiagnostic laboratoriesSurvival 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 mutationsGliomasFamilySubtypesLocal control after fractionated stereotactic radiation therapy for brain metastases
Rajakesari S, Arvold ND, Jimenez RB, Christianson LW, Horvath MC, Claus EB, Golby AJ, Johnson MD, Dunn IF, Lee EQ, Lin NU, Friesen S, Mannarino EG, Wagar M, Hacker FL, Weiss SE, Alexander BM. Local control after fractionated stereotactic radiation therapy for brain metastases. Journal Of Neuro-Oncology 2014, 120: 339-346. PMID: 25059451, DOI: 10.1007/s11060-014-1556-5.Peer-Reviewed Original ResearchConceptsStereotactic radiation therapyBrain metastasesStereotactic radiosurgeryRadiation therapyLocal controlNon-small cell lung cancerCommon tumor histologyDose intensification strategiesLocal control rateMedian tumor diameterCell lung cancerAcute toxicityIntracranial progressionLocal progressionMedian survivalOverall survivalMedian timeTumor diameterTumor histologyCommon symptomsEloquent areasControl rateLung cancerMild headacheBreast cancer
2012
Assessment of Autoantibodies to Meningioma in a Population-based Study
Wiemels JL, Bracci PM, Wrensch M, Schildkraut J, Bondy M, Pfefferle J, Zhou M, Sison J, Calvocoressi L, Claus EB. Assessment of Autoantibodies to Meningioma in a Population-based Study. American Journal Of Epidemiology 2012, 177: 75-83. PMID: 23221727, PMCID: PMC3590036, DOI: 10.1093/aje/kws221.Peer-Reviewed Original ResearchMeSH KeywordsAdultAgedAntigens, NuclearAutoantibodiesBiomarkers, TumorCell Cycle ProteinsDNA-Binding ProteinsEczemaFemaleHumansHypersensitivityMaleMeningiomaMiddle AgedNuclear Matrix-Associated ProteinsPhosphopyruvate HydrataseReceptors, ImmunologicSex FactorsSmokingSocioeconomic FactorsTumor Suppressor ProteinsUnited StatesConceptsImmune functionAssessment of autoantibodiesUS case-control studyPopulation-based studyTumor-associated antigensCase-control studyEnolase 1Case-control differencesNuclear mitotic apparatus protein 1Risk factorsAutoantibody reactivityImmunoglobulin EIntracranial tumorsMeningioma riskDistinctive etiologyMeningiomasInfection statusSerum samplesProtein 1MenFurther researchMulticenterHigh levelsAutoantibodiesPrevious studiesExogenous hormone use, reproductive factors, and risk of intracranial meningioma in females.
Claus EB, Calvocoressi L, Bondy ML, Wrensch M, Wiemels JL, Schildkraut JM. Exogenous hormone use, reproductive factors, and risk of intracranial meningioma in females. Journal Of Neurosurgery 2012, 118: 649-56. PMID: 23101448, PMCID: PMC3756881, DOI: 10.3171/2012.9.jns12811.Peer-Reviewed Original ResearchMeSH KeywordsAdultAge of OnsetAgedBody Mass IndexBreast FeedingConnecticutContraceptives, OralEstrogen Replacement TherapyFemaleHumansMassachusettsMenarcheMeningeal NeoplasmsMeningiomaMenopauseMiddle AgedMultivariate AnalysisNorth CarolinaOdds RatioParityRegistriesReproductive HistoryRisk AssessmentRisk FactorsSan FranciscoSmokingTexasConceptsBody mass indexMeningioma riskMass indexIntracranial meningiomasExogenous hormone useHormone replacement therapyRisk of meningiomaYears of ageCurrent useResidents of ConnecticutHormone medicationWomen 29Postmenopausal womenPremenopausal womenCurrent smokingFertility medicationsOral contraceptivesHormone useMenstrual factorsSignificant positive associationCigarette smokingReplacement therapyRisk factorsReproductive factorsSignificant elevationInsight 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 ResearchDental x‐rays and risk of meningioma
Claus EB, Calvocoressi L, Bondy ML, Schildkraut JM, Wiemels JL, Wrensch M. Dental x‐rays and risk of meningioma. Cancer 2012, 118: 4530-4537. PMID: 22492363, PMCID: PMC3396782, DOI: 10.1002/cncr.26625.Peer-Reviewed Original ResearchConceptsRisk of meningiomaDental X-raysModifiable risk factorsIntracranial meningiomasRisk factorsAge 20Population-based case-control studyMain outcome measuresPrimary brain tumorsCase-control studyGreater frequencyPanorex filmsTumor locationBitewing examinationOutcome measuresElevated riskBrain tumorsControl groupMeningiomasYounger ageRadiation exposureAge 10AgePatientsRisk
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-Wide Association StudyGenome, HumanGenotypeGliomaHumansLinkage DisequilibriumLod ScoreMaleMiddle AgedPedigreePolymorphism, Single NucleotideUnited StatesYoung AdultFamily and personal medical history and risk of meningioma.
Claus EB, Calvocoressi L, Bondy ML, Schildkraut JM, Wiemels JL, Wrensch M. Family and personal medical history and risk of meningioma. Journal Of Neurosurgery 2011, 115: 1072-7. PMID: 21780859, PMCID: PMC3241000, DOI: 10.3171/2011.6.jns11129.Peer-Reviewed Original ResearchConceptsFirst-degree family historyPersonal medical historyMedical historyFamily historyMeningioma riskEpidemiology of meningiomaPrimary brain tumorsCase-control studyRisk of meningiomaUterine fibroid tumorsImmune conditionsThyroid cancerYoungest caseBreast cancerRole of hormonesBrain tumorsFibroid tumorsImmune systemControl individualsPatientsMeningiomasInfluence of geneticsStrong associationFurther studiesTumors
2009
Prevalence, Complications, and Hospital Charges Associated With Use of Bone-Morphogenetic Proteins in Spinal Fusion Procedures
Cahill KS, H. J, Day A, Claus EB. Prevalence, Complications, and Hospital Charges Associated With Use of Bone-Morphogenetic Proteins in Spinal Fusion Procedures. JAMA 2009, 302: 58-66. PMID: 19567440, DOI: 10.1001/jama.2009.956.Peer-Reviewed Original ResearchConceptsSpinal fusion proceduresAnterior cervical fusionHospital chargesSpinal fusionCervical fusionFusion proceduresUse of BMPAnterior cervical fusion proceduresBone morphogenetic protein useNationwide Inpatient Sample databaseBone morphogenetic proteinGreater hospital chargesPosterior cervical proceduresRetrospective cohort studyWound-related complicationsMore frequent complicationsRate of complicationsTotal hospital chargesCervical fusion proceduresInpatient hospital chargesLength of staySpinal fusion surgeryUS community hospitalsCervical proceduresComplication occurrence
2005
Prevalence of BRCA1 and BRCA2 Mutations in Women Diagnosed With Ductal Carcinoma In Situ
Claus EB, Petruzella S, Matloff E, Carter D. Prevalence of BRCA1 and BRCA2 Mutations in Women Diagnosed With Ductal Carcinoma In Situ. JAMA 2005, 293: 964-969. PMID: 15728167, DOI: 10.1001/jama.293.8.964.Peer-Reviewed Original ResearchConceptsInvasive breast cancerBreast cancerDuctal carcinomaFamily historyDCIS casesOvarian cancerBRCA2 mutationsBreast carcinomaLarge population-based case-control studyPopulation-based case-control studyFirst-degree family historyBreast/ovarian cancer syndromeBRCA2 mutation prevalenceHigh-risk protocolRisk factor informationNoninvasive breast carcinomaPrevalence of BRCA1Case-control studyOvarian cancer syndromeFirst-degree relativesBRCA2 mutation testingDisease-associated mutationsDistribution of BRCA1Mutation prevalenceCancer syndromes
1991
Genetic analysis of breast cancer in the cancer and steroid hormone study.
Claus EB, Risch N, Thompson WD. Genetic analysis of breast cancer in the cancer and steroid hormone study. American Journal Of Human Genetics 1991, 48: 232-42. PMID: 1990835, PMCID: PMC1683001.Peer-Reviewed Original ResearchConceptsCumulative lifetime riskBreast cancerLifetime riskSteroid Hormone StudyCase-control studyAge-specific riskBreast cancer casesProportion of casesInterviews of casesCancer casesFamily historyWomen's ageHormone StudyYounger ageCancerDisease controlGreater riskFamilial riskAgeSusceptibility allelesRiskNoncarriersAutosomal dominant alleleGenetic modelsYears