2019
Identification of a novel MYOC variant in a Hispanic family with early-onset primary open-angle glaucoma with elevated intraocular pressure
Criscione J, Ji W, Jeffries L, McGrath JM, Soloway S, Pusztai L, Lakhani S. Identification of a novel MYOC variant in a Hispanic family with early-onset primary open-angle glaucoma with elevated intraocular pressure. Molecular Case Studies 2019, 5: a004374. PMID: 31653660, PMCID: PMC6913140, DOI: 10.1101/mcs.a004374.Peer-Reviewed Original ResearchConceptsPrimary open-angle glaucomaEarly-onset primary open-angle glaucomaOpen-angle glaucomaGenetic testingElevated intraocular pressureJuvenile-onset primary open-angle glaucomaFurther genetic testingAutosomal dominant patternFemale patientsIntraocular pressureIrreversible blindnessFamily historyEye disordersMYOC variantsMyocilin geneGlaucomaPOAG phenotypeHispanic familiesOlfactomedin domainPrevious findingsDominant patternVariant segregatesMost casesPatientsEtiology
2017
Impacts of Early Guideline-Directed 21-Gene Recurrence Score Testing on Adjuvant Therapy Decision Making
Dzimitrowicz H, Mougalian S, Storms S, Hurd S, Chagpar AB, Killelea BK, Horowitz NR, Lannin DR, Harigopal M, Hofstatter E, DiGiovanna MP, Adelson KB, Silber A, Abu-Khalaf M, Chung G, Zaheer W, Abdelghany O, Hatzis C, Pusztai L, Sanft TB. Impacts of Early Guideline-Directed 21-Gene Recurrence Score Testing on Adjuvant Therapy Decision Making. JCO Oncology Practice 2017, 13: jop.2017.022731. PMID: 29048991, DOI: 10.1200/jop.2017.022731.Peer-Reviewed Original ResearchConceptsAdjuvant therapy decisionsRecurrence scoreChemotherapy useRS testingMedical oncologistsHistorical controlsChemotherapy decisionsTherapy decisionsEligibility criteriaNational Comprehensive Cancer Network guidelinesProspective quality improvement projectEarly-stage breast cancerAdjuvant chemotherapy recommendationsTime of diagnosisTime of surgeryQuality improvement projectTesting groupChemotherapy initiationChemotherapy recommendationsMedian timeTrial enrollmentNetwork guidelinesSurgical oncologistsClinical trialsBreast cancer
2015
Prospective assessment of the decision-making impact of the Breast Cancer Index in recommending extended adjuvant endocrine therapy for patients with early-stage ER-positive breast cancer
Sanft T, Aktas B, Schroeder B, Bossuyt V, DiGiovanna M, Abu-Khalaf M, Chung G, Silber A, Hofstatter E, Mougalian S, Epstein L, Hatzis C, Schnabel C, Pusztai L. Prospective assessment of the decision-making impact of the Breast Cancer Index in recommending extended adjuvant endocrine therapy for patients with early-stage ER-positive breast cancer. Breast Cancer Research And Treatment 2015, 154: 533-541. PMID: 26578401, PMCID: PMC4661200, DOI: 10.1007/s10549-015-3631-9.Peer-Reviewed Original ResearchMeSH KeywordsAgedAged, 80 and overAntineoplastic Agents, HormonalAnxietyBreast NeoplasmsChemotherapy, AdjuvantDecision MakingFemaleGene Expression Regulation, NeoplasticGenetic TestingHumansMiddle AgedNeoplasm Recurrence, LocalPrognosisProspective StudiesReceptors, EstrogenSurveys and QuestionnairesTamoxifenConceptsBreast Cancer IndexExtended endocrine therapyER-positive breast cancerAdjuvant endocrine therapyEndocrine therapyDecisional Conflict ScaleBreast cancerCancer indexPhysician recommendationRisk/benefit discussionEarly-stage estrogen receptorEndocrine therapy trialsYale Cancer CenterPositive breast cancerState-Trait Anxiety Inventory FormMean STAIExtended therapyLate recurrenceAbsolute benefitCancer CenterPatient satisfactionPrognostic informationTreatment recommendationsPatient anxietyImproved outcomesTumor profiling and the incidentalome: patient decisions and risks
Hofstatter E, Mehra K, Yushak M, Pusztai L. Tumor profiling and the incidentalome: patient decisions and risks. Future Oncology 2015, 11: 3299-3305. PMID: 26562094, DOI: 10.2217/fon.15.260.BooksConceptsTumor profilingField of oncologyTumor DNA sequencesOncology patientsIncidental discoveryPatient educationPatient's perspectivePatient decisionOncology communityClinical implicationsPatient healthGermline mutationsCancer medicineGenetic sequencingCancer therapyTherapyPotential riskRiskHealthPatientsIncidentalomeMainstayDiseaseOncologyProfilingChemotherapy and the recurrence score—results as expected?
Pusztai L. Chemotherapy and the recurrence score—results as expected? Nature Reviews Clinical Oncology 2015, 12: 690-692. PMID: 26552957, DOI: 10.1038/nrclinonc.2015.191.Peer-Reviewed Original ResearchMultigene prognostic tests in breast cancer: past, present, future
Győrffy B, Hatzis C, Sanft T, Hofstatter E, Aktas B, Pusztai L. Multigene prognostic tests in breast cancer: past, present, future. Breast Cancer Research 2015, 17: 11. PMID: 25848861, PMCID: PMC4307898, DOI: 10.1186/s13058-015-0514-2.BooksConceptsER-negative cancersPrognostic valuePredictive markerBreast cancerPrognostic signatureExtended adjuvant endocrine therapyPrognostic testAdjuvant endocrine therapyCandidate predictive markersImmune gene signaturesPositive breast cancerGood prognostic valueSignificant prognostic valueTreatment response predictorsNew predictive markers
2013
Influence of genomics on adjuvant treatments for pre-invasive and invasive breast cancer
Abu-Khalaf M, Pusztai L. Influence of genomics on adjuvant treatments for pre-invasive and invasive breast cancer. The Breast 2013, 22: s83-s87. PMID: 24074799, DOI: 10.1016/j.breast.2013.07.015.Peer-Reviewed Original ResearchMeSH KeywordsAdultAge FactorsAgedAntineoplastic Agents, HormonalBiopsy, NeedleBreast NeoplasmsChemotherapy, AdjuvantCost SavingsCost-Benefit AnalysisFemaleForecastingGenetic TestingGenomicsHumansImmunohistochemistryMiddle AgedNeoplasm InvasivenessNeoplasm StagingPrognosisReceptors, EstrogenRisk AssessmentSurvival AnalysisTreatment OutcomeConceptsLow-risk patientsBreast cancerRisk patientsTreatment recommendationsEarly-stage breast cancerER-positive breast cancerUse of chemotherapyInvasive breast cancerGenomic testingStage breast cancerInternational practice guidelinesMultivariate prognostic modelCost-effectiveness studiesPotential clinical valueAdjuvant treatmentBreast cancer biomarkersCurrent guidelinesPractice guidelinesClinical utilityClinical valueTumor markersStage IPrognostic modelPrognostic testClinical use
2012
Adjuvant Therapy in Stage I Carcinoma of the Breast: The Influence of Multigene Analyses and Molecular Phenotyping
Schwartz GF, Bartelink H, Burstein HJ, Cady B, Cataliotti L, Fentiman IS, Holland R, Hughes KS, Masood S, McCormick B, Palazzo JA, Pressman PI, Reis‐Filho J, Pusztai L, Rutgers EJ, Seidman AD, Solin LJ, Sparano JA. Adjuvant Therapy in Stage I Carcinoma of the Breast: The Influence of Multigene Analyses and Molecular Phenotyping. The Breast Journal 2012, 18: 303-311. PMID: 22759093, DOI: 10.1111/j.1524-4741.2012.01264.x.Peer-Reviewed Original ResearchConceptsStage I carcinomaAdjuvant therapyBreast cancerGene prognostic signaturePatient ageTumor sizeImmunohistochemical markersIndividual patientsConsensus conferencePrognostic signatureSteroid hormonesMolecular profilingNottingham indexMolecular phenotypingPatientsCarcinomaTherapyCancerBreastPrognosisPart of decisionHormone