2023
Race, Gene Expression Signatures, and Clinical Outcomes of Patients With High-Risk Early Breast Cancer
Kyalwazi B, Yau C, Campbell M, Yoshimatsu T, Chien A, Wallace A, Forero-Torres A, Pusztai L, Ellis E, Albain K, Blaes A, Haley B, Boughey J, Elias A, Clark A, Isaacs C, Nanda R, Han H, Yung R, Tripathy D, Edmiston K, Viscusi R, Northfelt D, Khan Q, Asare S, Wilson A, Hirst G, Lu R, Symmans W, Yee D, DeMichele A, van ’t Veer L, Esserman L, Olopade O. Race, Gene Expression Signatures, and Clinical Outcomes of Patients With High-Risk Early Breast Cancer. JAMA Network Open 2023, 6: e2349646. PMID: 38153734, PMCID: PMC10755617, DOI: 10.1001/jamanetworkopen.2023.49646.Peer-Reviewed Original ResearchConceptsDistant recurrence-free survivalPathologic complete responseErbB2-negative tumorsWorse distant recurrence-free survivalEarly breast cancerWhite patientsBreast cancerBlack patientsGene expression signaturesReceptor subtypesStage II/III breast cancerHigh-risk early breast cancerCox proportional hazards regression modelHigh-risk breast cancerClinical trial end pointsProportional hazards regression modelsTumor receptor subtypeRetrospective cohort studyPrimary tumor sizeRecurrence-free survivalTrial end pointsBreast cancer outcomesLong-term outcomesHazards regression modelsExpression signatures
2022
2MO Development of a prognostic gene-expression signature for early stage HER2-positive breast cancer patients
Di Cosimo S, Ciniselli C, Sotiriou C, Pogue-Geile K, Fumagalli D, de Azambuja E, Venet D, De Cecco L, Pong N, Cappelletti V, Tagliabue E, Wang Y, Manich C, Nuciforo P, Kuemmel S, Pusztai L, Daidone M, Pizzamiglio S, Pruneri G, Verderio P. 2MO Development of a prognostic gene-expression signature for early stage HER2-positive breast cancer patients. Annals Of Oncology 2022, 33: s124. DOI: 10.1016/j.annonc.2022.03.017.Peer-Reviewed Original Research
2021
Durvalumab with olaparib and paclitaxel for high-risk HER2-negative stage II/III breast cancer: Results from the adaptively randomized I-SPY2 trial
Pusztai L, Yau C, Wolf DM, Han HS, Du L, Wallace AM, String-Reasor E, Boughey JC, Chien AJ, Elias AD, Beckwith H, Nanda R, Albain KS, Clark AS, Kemmer K, Kalinsky K, Isaacs C, Thomas A, Shatsky R, Helsten TL, Forero-Torres A, Liu MC, Brown-Swigart L, Petricoin EF, Wulfkuhle JD, Asare SM, Wilson A, Singhrao R, Sit L, Hirst GL, Berry S, Sanil A, Asare AL, Matthews JB, Perlmutter J, Melisko M, Rugo HS, Schwab RB, Symmans WF, Yee D, Van't Veer LJ, Hylton NM, DeMichele AM, Berry DA, Esserman LJ. Durvalumab with olaparib and paclitaxel for high-risk HER2-negative stage II/III breast cancer: Results from the adaptively randomized I-SPY2 trial. Cancer Cell 2021, 39: 989-998.e5. PMID: 34143979, PMCID: PMC11064785, DOI: 10.1016/j.ccell.2021.05.009.Peer-Reviewed Original ResearchConceptsHER2-negative breast cancerTriple-negative breast cancerI-SPY2 trialBreast cancerNeoadjuvant chemotherapyStage II/III HER2-negative breast cancerStage II/III breast cancerGrade 3 adverse eventsPathologic complete response ratePD-L1 inhibitor durvalumabMast cell signaturePaclitaxel neoadjuvant chemotherapyComplete response rateHER2-negative patientsStandard neoadjuvant chemotherapyHER2-negative cancersPARP inhibitor olaparibAdverse eventsGene expression signaturesCare controlSuperior efficacyImmune responseResponse rateCancerInhibitor olaparibTargeted RNAseq assay incorporating unique molecular identifiers for improved quantification of gene expression signatures and transcribed mutation fraction in fixed tumor samples
Fu C, Marczyk M, Samuels M, Trevarton AJ, Qu J, Lau R, Du L, Pappas T, Sinn BV, Gould RE, Pusztai L, Hatzis C, Symmans WF. Targeted RNAseq assay incorporating unique molecular identifiers for improved quantification of gene expression signatures and transcribed mutation fraction in fixed tumor samples. BMC Cancer 2021, 21: 114. PMID: 33541297, PMCID: PMC7860187, DOI: 10.1186/s12885-021-07814-8.Peer-Reviewed Original ResearchConceptsPolymerase chain reactionParaffin-embedded tumor tissue samplesConcordance correlation coefficientFresh frozenFFPE samplesPrimary breast cancerMulti-gene signatureTumor tissue samplesActivating point mutationMutant allele fractionReverse transcriptionKey breast cancer genesGene expression signaturesBreast cancer genesPIK3CA mutationsBackgroundOur objectiveBreast cancerWhole transcriptome RNAseqTumor samplesLin's concordance correlation coefficientHormone receptorsFF samplesTissue samplesExpression signaturesChain reaction
2019
The impact of RNA extraction method on accurate RNA sequencing from formalin-fixed paraffin-embedded tissues
Marczyk M, Fu C, Lau R, Du L, Trevarton AJ, Sinn BV, Gould RE, Pusztai L, Hatzis C, Symmans WF. The impact of RNA extraction method on accurate RNA sequencing from formalin-fixed paraffin-embedded tissues. BMC Cancer 2019, 19: 1189. PMID: 31805884, PMCID: PMC6896723, DOI: 10.1186/s12885-019-6363-0.Peer-Reviewed Original ResearchConceptsBreast cancerFresh frozenParaffin-embedded tumor samplesFF samplesFFPE samplesConcordance correlation coefficientMixed-effects model analysisBreast cancer signaturesQiagen RNeasy kitWhole transcriptome RNA sequencingParaffin-embedded tissuesTranscriptome RNA sequencingLinear mixed-effects model analysisGene expression signaturesDifferent kitsClinical trialsGene signatureTumor samplesGene expressionTranslational researchCancerTissue samplesExpression signaturesArchival formalinSimilar concordance
2018
Association of T-Cell Receptor Repertoire Use With Response to Combined Trastuzumab-Lapatinib Treatment of HER2-Positive Breast Cancer: Secondary Analysis of the NeoALTTO Randomized Clinical Trial
Powles RL, Redmond D, Sotiriou C, Loi S, Fumagalli D, Nuciforo P, Harbeck N, de Azambuja E, Sarp S, Di Cosimo S, Huober J, Baselga J, Piccart-Gebhart M, Elemento O, Pusztai L, Hatzis C. Association of T-Cell Receptor Repertoire Use With Response to Combined Trastuzumab-Lapatinib Treatment of HER2-Positive Breast Cancer: Secondary Analysis of the NeoALTTO Randomized Clinical Trial. JAMA Oncology 2018, 4: e181564-e181564. PMID: 29902299, PMCID: PMC6224305, DOI: 10.1001/jamaoncol.2018.1564.Peer-Reviewed Original ResearchConceptsDual HER2 blockadeImmune gene signaturesPathologic complete responseDual HER2HER2 blockadeNeoALTTO trialDual anti-HER2 blockadeHigher immune gene expressionTrastuzumab Treatment Optimisation (ALTTO) trialHER2-positive breast cancerGene signatureAnti-HER2 blockadeHigher useHER2-positive patientsMultivariable logistic regressionRandomized clinical trialsGood responseHigh rateImmune gene expressionNeoadjuvant lapatinibTherapy armIdentifies patientsNeoadjuvant therapyComplete responseGene expression signatures
2013
Genome-wide gene expression profiling to predict resistance to anthracyclines in breast cancer patients
Haibe-Kains B, Desmedt C, Di Leo A, Azambuja E, Larsimont D, Selleslags J, Delaloge S, Duhem C, Kains JP, Carly B, Maerevoet M, Vindevoghel A, Rouas G, Lallemand F, Durbecq V, Cardoso F, Salgado R, Rovere R, Bontempi G, Michiels S, Buyse M, Nogaret JM, Qi Y, Symmans F, Pusztai L, D'Hondt V, Piccart-Gebhart M, Sotiriou C. Genome-wide gene expression profiling to predict resistance to anthracyclines in breast cancer patients. Data In Brief 2013, 1: 7-10. PMID: 26484051, PMCID: PMC4608867, DOI: 10.1016/j.gdata.2013.09.001.Peer-Reviewed Original ResearchBreast cancer patientsResponse/resistanceAnthracycline monotherapyNeoadjuvant trialsGene expression signaturesNegative tumorsCancer patientsBreast cancerClinical dataEstrogen receptorClinical OncologyPredictive valuePatientsAnthracyclinesGene expressionII alphaExpression signaturesGenome-wide gene expressionMonotherapyExpressionTumorsCancerOncologyTrialsBiomarkers
2011
Multifactorial Approach to Predicting Resistance to Anthracyclines
Desmedt C, Di Leo A, de Azambuja E, Larsimont D, Haibe-Kains B, Selleslags J, Delaloge S, Duhem C, Kains JP, Carly B, Maerevoet M, Vindevoghel A, Rouas G, Lallemand F, Durbecq V, Cardoso F, Salgado R, Rovere R, Bontempi G, Michiels S, Buyse M, Nogaret JM, Qi Y, Symmans F, Pusztai L, D'Hondt V, Piccart-Gebhart M, Sotiriou C. Multifactorial Approach to Predicting Resistance to Anthracyclines. Journal Of Clinical Oncology 2011, 29: 1578-1586. PMID: 21422418, DOI: 10.1200/jco.2010.31.2231.Peer-Reviewed Original ResearchMeSH KeywordsAntibiotics, AntineoplasticAntigens, NeoplasmBiomarkers, TumorBiopsyBreast NeoplasmsChemotherapy, AdjuvantDNA Topoisomerases, Type IIDNA-Binding ProteinsDrug Resistance, NeoplasmEpirubicinEuropeFemaleGene Expression ProfilingGene Expression Regulation, NeoplasticHumansMiddle AgedNeoadjuvant TherapyOdds RatioPatient SelectionPoly-ADP-Ribose Binding ProteinsPredictive Value of TestsProspective StudiesReceptor, ErbB-2Receptors, EstrogenReproducibility of ResultsRisk AssessmentRisk FactorsTexasTreatment FailureConceptsPathologic complete responseHuman epidermal growth factor receptor 2Neoadjuvant trialsTOP trialPredictive valueEstrogen receptor-negative tumorsEpidermal growth factor receptor 2High negative predictive valuePrimary end pointGrowth factor receptor 2Receptor-negative tumorsResponse/resistanceFactor receptor 2Negative predictive valueUseful clinical toolER-negative samplesA scoresAnthracycline monotherapyEvaluable patientsGene expression signaturesComplete responseBreast cancerImmune responseReceptor 2Patients
2009
Correlation of PIK3CA mutation-associated gene expression signature (PIK3CA-GS) with deactivation of the PI3K pathway and with prognosis within the luminal-B ER+ breast cancers
Loi S, Haibe-Kains B, Lallemand F, Pusztai L, Bardelli A, Gillett C, Ellis P, Piccart-Gebhart M, Phillips W, McArthur G, Sotiriou C. Correlation of PIK3CA mutation-associated gene expression signature (PIK3CA-GS) with deactivation of the PI3K pathway and with prognosis within the luminal-B ER+ breast cancers. Journal Of Clinical Oncology 2009, 27: 533-533. DOI: 10.1200/jco.2009.27.15_suppl.533.Peer-Reviewed Original ResearchPI3K pathwayBreast cancerPIK3CA mutationsMutation statusGene expression signaturesK pathwayClinical outcomesLuminal B breast cancerLuminal BC subtypePIK3CA mutation statusBetter clinical outcomesIndependent prognostic informationB breast cancerExpression signaturesPI3K inhibitorsPI3K inhibitionBC cohortDistinct gene expression signaturesEndocrine therapyBC samplesBC subtypesPrognostic informationFavorable outcomeEstrogen receptorMutation carriers
2005
Gene expression profiling of primary breast cancer
Rouzier R, Wagner P, Morandi P, Pusztai L. Gene expression profiling of primary breast cancer. Current Oncology Reports 2005, 7: 38-44. PMID: 15610685, DOI: 10.1007/s11912-005-0024-y.Peer-Reviewed Original Research