2016
Deciphering and Targeting Oncogenic Mutations and Pathways in Breast Cancer
Santarpia L, Bottai G, Kelly CM, Győrffy B, Székely B, Pusztai L. Deciphering and Targeting Oncogenic Mutations and Pathways in Breast Cancer. The Oncologist 2016, 21: 1063-1078. PMID: 27384237, PMCID: PMC5016060, DOI: 10.1634/theoncologist.2015-0369.Peer-Reviewed Original ResearchConceptsBreast cancerCancer-causing genesCopy number variationsRNA speciesRNA editingGenomic variationNext-generation sequencingRNA sequencingGenomic complexityGenomic portraitGreater genomic complexityOncogenic mutationsOncogenic eventsTarget profilingRare mutationsMutationsRecurrent mutationsSomatic variantsGenetic aberrationsFormal clinical trialsPotential therapeutic implicationsDriver mutationsSequencingGermline variantsMolecular abnormalities
2015
Characterization of DNA variants in the human kinome in breast cancer
Agarwal D, Qi Y, Jiang T, Liu X, Shi W, Wali VB, Turk B, Ross JS, Fraser Symmans W, Pusztai L, Hatzis C. Characterization of DNA variants in the human kinome in breast cancer. Scientific Reports 2015, 5: 14736. PMID: 26420498, PMCID: PMC4588561, DOI: 10.1038/srep14736.Peer-Reviewed Original ResearchMeSH KeywordsAdultAgedAged, 80 and overBiomarkers, TumorBreast NeoplasmsFemaleGene Expression Regulation, NeoplasticGenetic Predisposition to DiseaseGenetic VariationHigh-Throughput Nucleotide SequencingHumansMiddle AgedMutationNeoplasm GradingNeoplasm MetastasisNeoplasm StagingPhosphotransferasesPolymorphism, Single NucleotideReproducibility of ResultsTranscriptomeConceptsBreast cancerHuman kinomeKinase geneGreater mutational loadNucleic acid variationPrimary cancer samplesPrimary breast cancerHistologic grade 1Major functional impactSOLiD sequencing platformIndividual breast cancersNon-synonymous variantsFine-needle biopsyGrade 3 casesCancer-related genesNucleotide variationsDNA variantsSequencing platformsMetastatic lesionsMutational loadAcid variationsCancer biologyGenesNeedle biopsyAdditional cancers
2011
Effect of CYP2D6 polymorphisms on breast cancer recurrence
Morrow PK, Serna R, Broglio K, Pusztai L, Nikoloff DM, Hillman GR, Fontecha M, Li R, Michaud L, Hortobagyi G, Gonzalez‐Angulo A. Effect of CYP2D6 polymorphisms on breast cancer recurrence. Cancer 2011, 118: 1221-1227. PMID: 21823108, DOI: 10.1002/cncr.26407.Peer-Reviewed Original ResearchMeSH KeywordsAdultAgedAntineoplastic Combined Chemotherapy ProtocolsBreast NeoplasmsCarcinomaCase-Control StudiesCohort StudiesCytochrome P-450 CYP2D6Cytochrome P-450 CYP2D6 InhibitorsEnzyme InhibitorsFemaleFollow-Up StudiesGenetic Predisposition to DiseaseHumansMastectomyMiddle AgedNeoplasm Recurrence, LocalPolymorphism, GeneticTamoxifenConceptsEarly breast cancerBreast cancer recurrenceAdjuvant tamoxifen therapyCancer recurrenceTamoxifen therapyMedical historyCYP2D6 genotypeTexas MD Anderson Cancer CenterFresh frozen tumor samplesCytochrome P450 2D6 polymorphismMD Anderson Cancer CenterBreast cancer patientsRisk of recurrenceCase-control studyAnderson Cancer CenterPatient's medical historyFrozen tumor samplesAdjuvant tamoxifenAdjuvant therapyConcomitant medicationsPatient characteristicsAmpliChip CYP450 TestCYP2D6 metabolismDisease recurrenceCancer Center
2006
Continued Use of Trastuzumab (Herceptin) after Progression on Prior Trastuzumab Therapy in HER-2-Positive Metastatic Breast Cancer
Pusztai L, Esteva FJ. Continued Use of Trastuzumab (Herceptin) after Progression on Prior Trastuzumab Therapy in HER-2-Positive Metastatic Breast Cancer. Cancer Investigation 2006, 24: 187-191. PMID: 16619408, DOI: 10.1080/07357900500524629.Peer-Reviewed Original ResearchConceptsTrastuzumab therapyClinical trialsBreast cancerImportant unanswered clinical questionsLong-term side effectsContinuation of trastuzumabPrior trastuzumab therapyTrastuzumab-containing therapyUse of trastuzumabMetastatic breast cancerUnanswered clinical questionsPositive breast cancerRandomized clinical trialsTerm side effectsAccrue patientsMetastatic diseaseContinued administrationRandomized trialsControl armRegistry programDisease progressionClinical questionsSide effectsModest toxicityTrastuzumab
2004
Pharmacogenomics
Ross JS, Schenkein DP, Kashala O, Linette GP, Stec J, Symmans WF, Pusztai L, Hortobagyi GN. Pharmacogenomics. Advances In Anatomic Pathology 2004, 11: 211-220. PMID: 15220824, DOI: 10.1097/01.pap.0000131825.77317.ee.Peer-Reviewed Original ResearchMeSH KeywordsDrug Resistance, NeoplasmGene Expression Regulation, NeoplasticGenetic Predisposition to DiseaseGenome, HumanHumansNeoplasmsOligonucleotide Array Sequence AnalysisPharmacogeneticsConceptsDisease pathway genesGene expression patternsWhole-genome technologiesHuman genomeTranscriptional profilingGenome technologyPathway genesMolecular basisGenomic microarraysSNP technologySolid Tumors (RECIST) classificationExpression patternsTarget discoveryProteomics researchDrug targetsGenetic variantsNon-genetic factorsAnti-cancer drugsComputational biologyVariety of diseasesField of pharmacogeneticsDrug metabolizing enzymesToxic responseLeukemia/lymphomaGroup of drugs
2003
Breast cancer biomarkers and molecular medicine
Ross JS, Linette GP, Stec J, Clark E, Ayers M, Leschly N, Symmans WF, Hortobagyi GN, Pusztai L. Breast cancer biomarkers and molecular medicine. Expert Review Of Molecular Diagnostics 2003, 3: 573-585. PMID: 14510178, DOI: 10.1586/14737159.3.5.573.Peer-Reviewed Original ResearchConceptsCell cycle regulatorsInvasion-associated proteinsTumor suppressor geneTranscription factorsTranscriptional profilingDNA repairGrowth factor receptorCell adhesion moleculeDrug resistance proteinsGenomic microarraysCycle regulatorsBreast cancer biomarkersPrognostic factorsApoptosis regulatorEpithelial growth factor receptorSuppressor geneHormone receptor proteinsBreast cancer predispositionCancer predispositionReceptor proteinCytogenetic markersResistance proteinBreast cancer prognostic factorsCancer biomarkersFactor receptorThe HER-2/neu Gene and Protein in Breast Cancer 2003: Biomarker and Target of Therapy
Ross JS, Fletcher JA, Linette GP, Stec J, Clark E, Ayers M, Symmans WF, Pusztai L, Bloom KJ. The HER-2/neu Gene and Protein in Breast Cancer 2003: Biomarker and Target of Therapy. The Oncologist 2003, 8: 307-325. PMID: 12897328, DOI: 10.1634/theoncologist.8-4-307.Peer-Reviewed Original ResearchMeSH KeywordsAdultAge DistributionAgedAntibodies, MonoclonalAntibodies, Monoclonal, HumanizedBiomarkers, TumorBreast NeoplasmsBreast Neoplasms, MaleCombined Modality TherapyEducation, Medical, ContinuingFemaleGene Expression Regulation, NeoplasticGenes, erbB-2Genetic Predisposition to DiseaseHumansIncidenceMaleMiddle AgedNeoplasm StagingPrognosisRisk AssessmentSensitivity and SpecificitySurvival AnalysisTrastuzumabTreatment OutcomeConceptsBreast cancerHER-2/neu statusHER-2/neu oncogeneNeu geneNew hormonal therapiesSerum-based testingMale breast cancerHER-2/neu geneTarget of therapyNeu gene amplificationEpidermal growth factor receptorTransmembrane tyrosine kinase receptorPrediction of responseGrowth factor receptorHormonal therapyTyrosine kinase receptorsTrastuzumab therapyDuctal carcinomaNeu overexpressionHER-2Disease outcomeTumor cytosolsTherapy responseNeu statusNeu testing