2024
Rare germline variants in cancer-relevant genes are associated with breast cancer risk in young women with high-risk family history
Rozenblit M, Qing T, Ye Y, Zhao H, Hofstatter E, Singh V, Reisenbichler E, Murray M, Pusztai L. Rare germline variants in cancer-relevant genes are associated with breast cancer risk in young women with high-risk family history. Breast Cancer Research And Treatment 2024, 1-6. PMID: 39602012, DOI: 10.1007/s10549-024-07560-y.Peer-Reviewed Original ResearchHigh-risk family historyFamily historyRare germline variantsCancer riskSNP-set kernel association testAssociated with breast cancer riskCancer casesContribution of family historyEarly-onset breast cancerCancer Prevention ClinicBreast cancerBreast cancer riskKernel association testBreast cancer casesCancer-predisposing genesGermline variantsGermline pathogenic variantsYoung womenPrevention clinicSKAT-OBurden testsPathogenic variantsExome sequencing dataAssociation TestLevel alterations
2023
Prevalence of targetable genomic alterations in young women with advanced breast cancer: a cross-sectional study
Blansky D, Ansari N, Gao L, Sokol E, Sivakumar S, Huang R, Pelletier M, Levy M, Pavlick D, Danziger N, Ross J, Lustberg M, Rozenblit M. Prevalence of targetable genomic alterations in young women with advanced breast cancer: a cross-sectional study. Breast Cancer Research And Treatment 2023, 204: 181-185. PMID: 37999916, DOI: 10.1007/s10549-023-07179-5.Peer-Reviewed Original ResearchComprehensive genomic profilingBreast cancerYoung womenGenomic alterationsAdvanced breast cancerPD-L1 expressionTargetable genomic alterationsWorse clinical outcomesTime of diagnosisTumor mutational burdenCross-sectional studyBreast cancer casesFoundation MedicineClinical outcomesPIK3CA mutationsCancer casesEstrogen receptorMutational burdenOlder womenConclusionOur findingsTotal casesBreast tumorsTumor tissueBRCA1 mutationsMicrosatellite instabilityMolecular Characterization of HER2-Low Invasive Breast Carcinoma by Quantitative RT-PCR Using Oncotype DX Assay
Lin H, Can T, Kahn A, Flannery C, Hoag J, Akkunuri A, Bailey H, Baehner R, Pusztai L, Rozenblit M. Molecular Characterization of HER2-Low Invasive Breast Carcinoma by Quantitative RT-PCR Using Oncotype DX Assay. The Oncologist 2023, 28: e973-e976. PMID: 37656608, PMCID: PMC10546821, DOI: 10.1093/oncolo/oyad249.Peer-Reviewed Original ResearchConceptsHER2 mRNA levelsIHC 0MRNA levelsOncotype DX recurrence score resultsEstrogen receptor-positive breast cancerReceptor-positive breast cancerCurrent adjuvant chemotherapyOncotype DX assayRecurrence Score resultsPositive breast cancerInvasive breast carcinomaIHC score 0Adjuvant chemotherapyQuantitative RT-PCRBreast carcinomaPositive statusScore 0Breast cancerStage IYale cohortHigher mRNA levelsCancerRT-PCRPatientsHER2De Novo Oligometastatic Breast Cancer
Pusztai L, Rozenblit M, Dubsky P, Bachelot T, Kirby A, Linderholm B, White J, Chmura S, Carey L, Chua B, Miller K. De Novo Oligometastatic Breast Cancer. Journal Of Clinical Oncology 2023, 41: 5237-5241. PMID: 37607325, PMCID: PMC10691789, DOI: 10.1200/jco.23.00911.Peer-Reviewed Original ResearchMore than bad luck: Cancer and aging are linked to replication-driven changes to the epigenome
Minteer C, Thrush K, Gonzalez J, Niimi P, Rozenblit M, Rozowsky J, Liu J, Frank M, McCabe T, Sehgal R, Higgins-Chen A, Hofstatter E, Pusztai L, Beckman K, Gerstein M, Levine M. More than bad luck: Cancer and aging are linked to replication-driven changes to the epigenome. Science Advances 2023, 9: eadf4163. PMID: 37467337, PMCID: PMC10355820, DOI: 10.1126/sciadv.adf4163.Peer-Reviewed Original ResearchConceptsStem cell divisionImmortalized human cellsTissue-specific cancer riskTumorigenic stateCell divisionDNA methylationEpigenetic changesAge-related accumulationHuman cellsMultiple tissuesSomatic mutationsClinical tissuesTissue differencesEpigenomeCellsTissueNormal tissuesMethylationMutationsReplicationNormal breast tissueSignaturesVitroAccumulationDivision
2022
Molecular differences between younger versus older ER-positive and HER2-negative breast cancers
Qing T, Karn T, Rozenblit M, Foldi J, Marczyk M, Shan N, Blenman K, Holtrich U, Kalinsky K, Meric-Bernstam F, Pusztai L. Molecular differences between younger versus older ER-positive and HER2-negative breast cancers. Npj Breast Cancer 2022, 8: 119. PMID: 36344517, PMCID: PMC9640562, DOI: 10.1038/s41523-022-00492-0.Peer-Reviewed Original ResearchBreast cancerYounger patientsHER2-negative breast cancerNode-positive breast cancerNode-negative diseaseSame clinical featuresHigh mutation burdenLower mRNA expressionAdjuvant chemotherapyMicroarray cohortTAILORx trialOvarian suppressionOlder patientsPatient ageClinical featuresProliferation-related gene expressionScore 0Mutation burdenCopy number gainsOlder womenGATA3 mutationsAge groupsGene signatureMRNA expressionChemotherapyPD-L1 protein expression in relation to recurrence score values in early-stage ER + breast cancer
Rozenblit M, Blenman K, Harigopal M, Reisenbichler E, Singh K, Qing T, Ibrahim E, Ramkissoon S, Asmelash S, Lin HK, Roberts M, Ross J, Huang RSP, Pusztai L. PD-L1 protein expression in relation to recurrence score values in early-stage ER + breast cancer. Breast Cancer Research And Treatment 2022, 196: 221-227. PMID: 36028784, DOI: 10.1007/s10549-022-06712-2.Peer-Reviewed Original ResearchConceptsPD-L1 positivityPD-L1 protein expressionPD-L1 expressionGrade 3 cancersPD-L1TIL scoreTumor gradeMultivariate analysisHigher PD-L1 positivityTumor-infiltrating lymphocyte countsConclusionPD-L1 expressionProtein expressionPD-L1 immunohistochemistryChi-square testResultsPD-L1T1 cancersLymphocyte countT3 tumorsIndependent predictorsTumor sizeLarge tumorsPositivity rateCell positivityBreast cancerGrade 2Targetable genomic mutations in young women with advanced breast cancer.
Ansari N, Gao L, Sokol E, Sivakumar S, Huang R, Pelletier M, Levy M, Pavlick D, Danziger N, Ross J, Lustberg M, Rozenblit M. Targetable genomic mutations in young women with advanced breast cancer. Journal Of Clinical Oncology 2022, 40: 1027-1027. DOI: 10.1200/jco.2022.40.16_suppl.1027.Peer-Reviewed Original ResearchComprehensive genomic profilingTumor mutational burdenAdvanced breast cancerPD-L1 expressionBreast cancerYoung womenImmune therapyPIK3CA mutationsGenomic alterationsTumor cell PD-L1 expressionClasses of GAsRB1 mutationsDisease-free survivalActionable genomic alterationsDifferent mutational profilesPARP inhibitor useImmunotherapy optionsInhibitor useFoundation MedicineLymph nodesWorse prognosisBRCA2 mutationsEstrogen receptorMutational burdenOlder womenCancer Relevance of Human Genes
Qing T, Mohsen H, Cannataro VL, Marczyk M, Rozenblit M, Foldi J, Murray M, Townsend J, Kluger Y, Gerstein M, Pusztai L. Cancer Relevance of Human Genes. Journal Of The National Cancer Institute 2022, 114: 988-995. PMID: 35417011, PMCID: PMC9275765, DOI: 10.1093/jnci/djac068.Peer-Reviewed Original ResearchConceptsCore cancer genesHuman genesFunctional importanceSomatic mutation frequencySelection pressureGene/protein networksCancer genesHigher somatic mutation frequencyNegative selection pressureGene-gene interaction networksMutation frequencyProtein-truncating variantsGenomic contextCell viabilityGenes decreasesCancer Genome AtlasInteraction networksProtein networkCancer relevanceCancer cell viabilityCell survivalGenesCancer biologyGenome AtlasSearch toolsPredictive Markers of Response to Neoadjuvant Durvalumab with Nab-Paclitaxel and Dose-Dense Doxorubicin/Cyclophosphamide in Basal-Like Triple-Negative Breast Cancer.
Blenman KRM, Marczyk M, Karn T, Qing T, Li X, Gunasekharan V, Yaghoobi V, Bai Y, Ibrahim EY, Park T, Silber A, Wolf DM, Reisenbichler E, Denkert C, Sinn BV, Rozenblit M, Foldi J, Rimm DL, Loibl S, Pusztai L. Predictive Markers of Response to Neoadjuvant Durvalumab with Nab-Paclitaxel and Dose-Dense Doxorubicin/Cyclophosphamide in Basal-Like Triple-Negative Breast Cancer. Clinical Cancer Research 2022, 28: 2587-2597. PMID: 35377948, PMCID: PMC9464605, DOI: 10.1158/1078-0432.ccr-21-3215.Peer-Reviewed Original ResearchConceptsBasal-like triple-negative breast cancerPathologic complete responseResidual diseaseNeoadjuvant durvalumabDNA damage repairSomatic mutationsBreast cancerWnt/β-cateninHigh expressionTriple-negative breast cancerBasal-Like TripleDoxorubicin/cyclophosphamideDNA repairTumor mutation burdenRNA sequencingEpithelial-mesenchymal transitionFive-gene signatureB-cell markersCancer driversEnrichment analysisNegative breast cancerDamage repairGene expressionJAK-STATCell cycleSacituzumab govitecan: ascending the treatment algorithm in triple negative breast cancer
Rozenblit M, Lustberg MB. Sacituzumab govitecan: ascending the treatment algorithm in triple negative breast cancer. Annals Of Translational Medicine 2022, 0: 0-0. PMID: 35530962, PMCID: PMC9073796, DOI: 10.21037/atm-22-484.Peer-Reviewed Original ResearchEvidence of accelerated epigenetic aging of breast tissues in patients with breast cancer is driven by CpGs associated with polycomb-related genes
Rozenblit M, Hofstatter E, Liu Z, O’Meara T, Storniolo AM, Dalela D, Singh V, Pusztai L, Levine M. Evidence of accelerated epigenetic aging of breast tissues in patients with breast cancer is driven by CpGs associated with polycomb-related genes. Clinical Epigenetics 2022, 14: 30. PMID: 35209953, PMCID: PMC8876160, DOI: 10.1186/s13148-022-01249-z.Peer-Reviewed Original ResearchConceptsNormal breast tissueBreast cancerEpigenetic age accelerationBreast tissuePeripheral bloodAge accelerationStrong risk factorBreast cancer riskTissue/blood samplesGood surrogate markerBreast cancer diagnosisHealthy controlsRisk factorsSurrogate markerCancer riskBlood samplesTumor tissueCancerCancer diagnosisNew scoreTissueUnaffected individualsBloodEpigenetic aging signaturesEpigenetic aging
2021
Optimal Management for Residual Disease Following Neoadjuvant Systemic Therapy
Foldi J, Rozenblit M, Park TS, Knowlton CA, Golshan M, Moran M, Pusztai L. Optimal Management for Residual Disease Following Neoadjuvant Systemic Therapy. Current Treatment Options In Oncology 2021, 22: 79. PMID: 34213636, DOI: 10.1007/s11864-021-00879-4.Peer-Reviewed Original ResearchConceptsPathologic complete responseResidual cancerClinical trialsAdjuvant therapyExcellent long-term disease-free survivalLong-term disease-free survivalAxillary lymph node dissectionHuman epidermal growth factor receptor 2Early-stage breast cancerEpidermal growth factor receptor 2Post-mastectomy breastSystemic adjuvant therapyInternal mammary nodesLymph node dissectionNeoadjuvant systemic therapyDisease-free survivalGrowth factor receptor 2Minimal residual disease monitoringRecurrence-free survivalType of surgeryPivotal clinical trialsOngoing clinical trialsFactor receptor 2Residual disease monitoringAccurate prognostic estimatesPatterns of treatment with everolimus exemestane in hormone receptor-positive HER2-negative metastatic breast cancer in the era of targeted therapy
Rozenblit M, Mun S, Soulos P, Adelson K, Pusztai L, Mougalian S. Patterns of treatment with everolimus exemestane in hormone receptor-positive HER2-negative metastatic breast cancer in the era of targeted therapy. Breast Cancer Research 2021, 23: 14. PMID: 33514405, PMCID: PMC7844919, DOI: 10.1186/s13058-021-01394-y.Peer-Reviewed Original ResearchConceptsPrior endocrine therapyEndocrine therapyMetastatic breast cancerEffective treatment optionTreatment optionsBreast cancerMedian treatmentMedian OSEE therapyHormone receptor-positive HER2-negative metastatic breast cancerMultivariable Cox proportional hazards regression analysisHER2-negative metastatic breast cancerPrior treatmentCox proportional hazards regression analysisFirst-line therapy initiationProportional hazards regression analysisPrior treatment optionsLines of therapyProportion of patientsKaplan-Meier methodHazards regression analysisPatterns of treatmentElectronic health record-derived dataClinical trial dataOS benefit
2020
Comparison of PD-L1 protein expression between primary tumors and metastatic lesions in triple negative breast cancers
Rozenblit M, Huang R, Danziger N, Hegde P, Alexander B, Ramkissoon S, Blenman K, Ross JS, Rimm DL, Pusztai L. Comparison of PD-L1 protein expression between primary tumors and metastatic lesions in triple negative breast cancers. Journal For ImmunoTherapy Of Cancer 2020, 8: e001558. PMID: 33239417, PMCID: PMC7689582, DOI: 10.1136/jitc-2020-001558.Peer-Reviewed Original ResearchConceptsPD-L1 positivity ratePD-L1 positivityPD-L1 expressionDifferent metastatic sitesPrimary tumorMetastatic sitesPositivity rateImmune cellsMetastatic lesionsTumor cellsPD-L1 protein expressionTriple-negative breast cancerMore primary tumorsTriple negative breast cancer tumorsPrimary breast lesionsPrimary outcome measureSoft tissueNegative breast cancerLow positivity rateBreast cancer tumorsBone metastasesFoundation MedicineLymph nodesPD-L1Spearman correlation coefficient
2019
Transcriptomic profiles conducive to immune-mediated tumor rejection in human breast cancer skin metastases treated with Imiquimod
Rozenblit M, Hendrickx W, Heguy A, Chiriboga L, Loomis C, Ray K, Darvishian F, Egeblad M, Demaria S, Marincola FM, Bedognetti D, Adams S. Transcriptomic profiles conducive to immune-mediated tumor rejection in human breast cancer skin metastases treated with Imiquimod. Scientific Reports 2019, 9: 8572. PMID: 31189943, PMCID: PMC6561945, DOI: 10.1038/s41598-019-42784-9.Peer-Reviewed Original ResearchConceptsBreast cancer skin metastasesBreast cancer metastasisSkin metastasesImmune responsePost-treatment tumor samplesCancer metastasisReceptor 7 agonistStrong T-helperDurable clinical responsesImmune effector functionsBasal cell carcinomaRobust immune responseTopical imiquimodClinical responseT helperTumor rejectionCell carcinomaCytotoxic functionTranscriptomic profilesTumor regressionClinical trialsAntigen presentationT cellsImiquimodTumor destruction
2017
Identification of differentially expressed genes associated with clinical response after treatment of breast cancer skin metastases with imiquimod.
Rozenblit M, Heguy A, Chiriboga L, Loomis C, Darvishian F, Egeblad M, Shao Y, Adams S. Identification of differentially expressed genes associated with clinical response after treatment of breast cancer skin metastases with imiquimod. Journal Of Clinical Oncology 2017, 35: e12541-e12541. DOI: 10.1200/jco.2017.35.15_suppl.e12541.Peer-Reviewed Original ResearchBreast cancer skin metastasesSkin metastasesClinical responseImiquimod treatmentInnate immunityNK cellsT cellsB cellsToll-like receptor 7 agonistAnti-tumor immune responseER/PR statusPanCancer Immune Profiling PanelUpregulation of genesReceptor 7 agonistNK cell functionImmune Profiling PanelPossible combination therapiesUpregulation of TNFGene expression changesActivation of lymphocytesExpression changesTop upregulated genesPrediction of responseIL-17Non responders
2016
Changes in Pathological Complete Response Rates after Neoadjuvant Chemotherapy for Breast Carcinoma over Five Years
McFarland DC, Naikan J, Rozenblit M, Mandeli J, Bleiweiss I, Tiersten A. Changes in Pathological Complete Response Rates after Neoadjuvant Chemotherapy for Breast Carcinoma over Five Years. Journal Of Oncology 2016, 2016: 4324863. PMID: 27382369, PMCID: PMC4921638, DOI: 10.1155/2016/4324863.Peer-Reviewed Original ResearchPathological complete response rateTriple-negative breast cancerComplete response rateNeoadjuvant chemotherapyRates of pCRTime period 2PCR rateResponse rateAnthracycline/taxaneDual HER2 blockadeIntroduction of carboplatinType of chemotherapyBreast cancer patientsNegative breast cancerTime period 1HER2 blockadeNeoadjuvant regimensAdjuvant regimensClinical characteristicsHER2 positivityOpportunity trialCancer patientsBreast carcinomaBreast cancerStage I
2015
RNA sequencing atopic dermatitis transcriptome profiling provides insights into novel disease mechanisms with potential therapeutic implications
Suárez-Fariñas M, Ungar B, da Rosa J, Ewald DA, Rozenblit M, Gonzalez J, Xu H, Zheng X, Peng X, Estrada YD, Dillon SR, Krueger JG, Guttman-Yassky E. RNA sequencing atopic dermatitis transcriptome profiling provides insights into novel disease mechanisms with potential therapeutic implications. Journal Of Allergy And Clinical Immunology 2015, 135: 1218-1227. PMID: 25840722, DOI: 10.1016/j.jaci.2015.03.003.Peer-Reviewed Original ResearchMeSH KeywordsAdultComputational BiologyDermatitis, AtopicFemaleGene Expression ProfilingHumansInterleukin-1MaleMembrane GlycoproteinsMiddle AgedMolecular Sequence AnnotationReceptors, ImmunologicReproducibility of ResultsSequence Analysis, RNASignal TransductionSkinTranscriptomeTriggering Receptor Expressed on Myeloid Cells-1ConceptsAtopic dermatitisAD transcriptomeNonlesional skinMyeloid cells 1 (TREM1) signalingUnderstanding of ADTREM-1 pathwayRT-PCRSevere atopic dermatitisIL-36 cytokinesInfection-related inflammationNovel therapeutic targetPotential therapeutic implicationsAD-related genesNovel disease mechanismsTREM-1Real-time PCRAdaptive immunityAD phenotypeTherapeutic implicationsTherapeutic targetNext-generation RNA sequencingDisease pathologyGenomic profilingSame cohortDisease transcriptomeContact Dermatitis
Rozenblit M, Guttman‐Yassky E. Contact Dermatitis. 2015, 25-35. DOI: 10.1002/9781118609125.ch3.Peer-Reviewed Original ResearchIrritant contact dermatitisAllergic contact dermatitisContact dermatitisType IV hypersensitivity reactionHypersensitivity reactionsPhysical examinationPatch testingInflammatory reactionDermatitisCommon agentsGlucocorticoid creamWet dressingsSkinDiagnosisTreatmentIndustrial solventsAgentsLichenificationPatientsPrognosisAllergensHyperkeratosesPrevention