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 evidence
2015
Clinical 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 laboratories
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