2025
Quantifying the clinical impact of tissue reflex testing for liquid biopsy ESR1 mutation–negative cases with low ctDNA tumor fraction (TF) in HR(+)HER2(-) breast cancer.
Du J, Quintanilha J, Huang R, Heilmann A, Kahn A, Rozenblit M, Chiang A, Pusztai L, Krop I, Winer E, Graf R, Mills J, Gasco Hernandez A, Levy M, Lustberg M. Quantifying the clinical impact of tissue reflex testing for liquid biopsy ESR1 mutation–negative cases with low ctDNA tumor fraction (TF) in HR(+)HER2(-) breast cancer. Journal Of Clinical Oncology 2025, 43: 1065-1065. DOI: 10.1200/jco.2025.43.16_suppl.1065.Peer-Reviewed Original ResearchMetastatic breast cancerComprehensive genomic profilingPositive percent agreementClinicogenomic databaseTumor fractionCtDNA sheddingBC patientsReflex testBreast cancerFirst-line standard of careResistance to estrogen deprivationTissue comprehensive genomic profilingMetastatic breast cancer patientsFalse negative rateFoundationOne Liquid CDxFirst-line standardMutation-negative casesCohort of patientsStandard of careESR1 mutationsTumor genotypeEstrogen deprivationFirst-lineAromatase inhibitorsClinical impact
2024
A phase 1 dose expansion study of a first-in-class KAT6 inhibitor (PF-07248144) in patients with advanced or metastatic ER+ HER2− breast cancer.
Mukohara T, Park Y, Sommerhalder D, Yonemori K, Kim S, Kim J, Iwata H, Yamashita T, Layman R, Kim G, Im S, Lindeman G, Rugo H, Liyanage M, Homji Mishra N, Maity A, Bogg O, Liu L, Li M, LoRusso P. A phase 1 dose expansion study of a first-in-class KAT6 inhibitor (PF-07248144) in patients with advanced or metastatic ER+ HER2− breast cancer. Journal Of Clinical Oncology 2024, 42: 3006-3006. DOI: 10.1200/jco.2024.42.16_suppl.3006.Peer-Reviewed Original ResearchHER2- metastatic breast cancerTreatment-related adverse eventsMetastatic breast cancerCirculating tumor DNABreast cancerGene mutationsFrequent treatment-related adverse eventsMedian duration of follow-upAntitumor activityDuration of follow-upClinical benefit rateProgression-free survivalHER2 breast cancerMutant allele frequencyExpansion doseFulvestrant combinationMedian DORESR1 mutationsMetastatic settingDose modificationEndocrine therapySystemic therapyMedian durationTumor DNACDK4/6 inhibitors
2023
Efficacy of Oral SERDs in the treatment of ER+, HER2 - metastatic breast cancer, a stratified analysis of the ESR1 wild type and mutant subgroups
Wong N, Yap D, Ong R, Zhao J, Chan Y, Tey J, Sundar R, Lim J, Dawood S. Efficacy of Oral SERDs in the treatment of ER+, HER2 - metastatic breast cancer, a stratified analysis of the ESR1 wild type and mutant subgroups. Annals Of Oncology 2023 PMID: 37871699, DOI: 10.1016/j.annonc.2023.10.122.Peer-Reviewed Original ResearchTreatment of physician's choiceIndividual patient dataOral SERDsMetastatic breast cancerPFS benefitKaplan MeierBreast cancerEstimate time-to-event outcomesHER2- metastatic breast cancerESR1 mutation statusIndividual Patient Data Meta-AnalysisOverall populationAdvanced breast cancerMeta-analysisMutant subgroupESR1 mutationsEndocrine therapyMutation statusRandomised controlled trialsOverall cohortPooled analysisDrug classesPFSPhysician's choicePreferred Reporting ItemsEfficacy of oral selective estrogen receptor degraders (SERD)s in the treatment of estrogen receptor positive (ER+), HER2-negative metastatic breast cancer (MBC): A stratified analysis of the ESR1 wild type (wt) and mutant (mt) subgroups.
Zhao J, Wong Zhun Hong N, Yap D, Ong R, Sundar R, Lim J, Dawood S. Efficacy of oral selective estrogen receptor degraders (SERD)s in the treatment of estrogen receptor positive (ER+), HER2-negative metastatic breast cancer (MBC): A stratified analysis of the ESR1 wild type (wt) and mutant (mt) subgroups. Journal Of Clinical Oncology 2023, 41: 1096-1096. DOI: 10.1200/jco.2023.41.16_suppl.1096.Peer-Reviewed Original ResearchProgression free survival benefitTreatment of physician's choiceProgression free survivalMetastatic breast cancerEndocrine therapyESR1 mutationsOverall cohortEstrogen receptorKaplan MeierEstimate time-to-event outcomesHER2-negative metastatic breast cancerOral selective estrogen receptor degraderHER2- metastatic breast cancerSurvival dataTreatment of estrogen receptorSelective estrogen receptor degraderOverall populationCompare survival outcomesIPD meta-analysisMeta-analysisEstrogen receptor degraderOral SERDsPFS differenceCompared to ETFree survival
2022
The oral selective estrogen receptor degrader GDC-0810 (ARN-810) in postmenopausal women with hormone receptor-positive HER2-negative (HR + /HER2 −) advanced/metastatic breast cancer
Bardia A, Mayer I, Winer E, Linden H, Ma C, Parker B, Bellet M, Arteaga C, Cheeti S, Gates M, Chang C, Fredrickson J, Spoerke J, Moore H, Giltnane J, Friedman L, Chow Maneval E, Chan I, Jhaveri K. The oral selective estrogen receptor degrader GDC-0810 (ARN-810) in postmenopausal women with hormone receptor-positive HER2-negative (HR + /HER2 −) advanced/metastatic breast cancer. Breast Cancer Research And Treatment 2022, 197: 319-331. PMID: 36401732, PMCID: PMC9823088, DOI: 10.1007/s10549-022-06797-9.Peer-Reviewed Original ResearchConceptsMetastatic breast cancerSelective estrogen receptor degraderDose escalationESR1 mutationsPostmenopausal womenBreast cancerEstrogen receptorCombination treatmentNon-complete response/non-progressive diseaseAdvanced/Metastatic Breast CancerOral selective estrogen receptor degraderPreliminary anti-tumor activityESR1 mutation statusPhase 2 dosePlasma ctDNA samplesCommon adverse eventsNon-progressive diseaseDose-limiting toxicityHormone-releasing hormoneSelective estrogen receptorAnti-tumor activityStable diseaseAdverse eventsPartial responseProgressive diseaseClinical Efficacy and Whole-Exome Sequencing of Liquid Biopsies in a Phase IB/II Study of Bazedoxifene and Palbociclib in Advanced Hormone Receptor-Positive Breast Cancer.
Tsuji J, Li T, Grinshpun A, Coorens T, Russo D, Anderson L, Rees R, Nardone A, Patterson C, Lennon NJ, Cibulskis C, Leshchiner I, Tayob N, Tolaney SM, Tung N, McDonnell DP, Krop IE, Winer EP, Stewart C, Getz G, Jeselsohn R. Clinical Efficacy and Whole-Exome Sequencing of Liquid Biopsies in a Phase IB/II Study of Bazedoxifene and Palbociclib in Advanced Hormone Receptor-Positive Breast Cancer. Clinical Cancer Research 2022, 28: 5066-5078. PMID: 36215125, PMCID: PMC9722539, DOI: 10.1158/1078-0432.ccr-22-2305.Peer-Reviewed Original ResearchConceptsProgression-free survivalPhase Ib/II studyCombination of palbociclibBreast cancerWhole-exome sequencingESR1 mutationsII studyClinical efficacySafety profileHormone receptor-positive/HER2-negative advanced breast cancerAdvanced hormone receptor-positive breast cancerHER2-negative advanced breast cancerHormone receptor-positive breast cancerThird-generation selective estrogen receptor modulatorMedian progression-free survivalEndocrine-resistant breast cancerReceptor-positive breast cancerShorter progression-free survivalSelective estrogen receptor modulatorsClinical benefit rateAcceptable safety profileAdvanced breast cancerEstrogen receptor modulatorsSelective ER degraderDNA whole-exome sequencingLongitudinal circulating tumor DNA (ctDNA) whole-exome sequencing (WES) in the phase Ib/II trial of palbociclib and bazedoxifene reveals genomic dynamics and clonal evolution with the acquisition of treatment resistance in hormone receptor-positive, HER2-negative (HR+ HER2-), advanced breast cancer (ABC).
Grinshpun A, Tsuji J, Li T, Russo D, Anderson L, Rees R, Cibulskis C, Leshchiner I, Stewart C, Tung N, Krop I, Winer E, Tolaney S, Getz G, Jeselsohn R. Longitudinal circulating tumor DNA (ctDNA) whole-exome sequencing (WES) in the phase Ib/II trial of palbociclib and bazedoxifene reveals genomic dynamics and clonal evolution with the acquisition of treatment resistance in hormone receptor-positive, HER2-negative (HR+ HER2-), advanced breast cancer (ABC). Journal Of Clinical Oncology 2022, 40: 1058-1058. DOI: 10.1200/jco.2022.40.16_suppl.1058.Peer-Reviewed Original Research
2019
Genomic alterations in breast cancer: level of evidence for actionability according to ESMO Scale for Clinical Actionability of molecular Targets (ESCAT)
Condorelli R, Mosele F, Verret B, Bachelot T, Bedard P, Cortes J, Hyman D, Juric D, Krop I, Bieche I, Saura C, Sotiriou C, Cardoso F, Loibl S, Andre F, Turner N. Genomic alterations in breast cancer: level of evidence for actionability according to ESMO Scale for Clinical Actionability of molecular Targets (ESCAT). Annals Of Oncology 2019, 30: 365-373. PMID: 30715161, DOI: 10.1093/annonc/mdz036.Peer-Reviewed Original ResearchConceptsLevel of evidenceBreast cancerESMO ScaleClinical actionabilityGenomic alterationsMicrosatellite instabilityLarge randomized trialsMolecular targetsBRCA 1/2 mutationsGermline BRCA1/2 mutationsESR1 mutationsPreclinical evidenceNTRK fusionsRandomized trialsPIK3CA mutationsERBB2 mutationsBRCA1/2 mutationsRecurrent genomic alterationsMDM2 amplificationERBB2 amplificationClinical practiceDriver alterationsPTEN lossTumor genomic landscapeAntitumor activity
2018
Unraveling the clinicopathological features driving the emergence of ESR1 mutations in metastatic breast cancer
Kuang Y, Siddiqui B, Hu J, Pun M, Cornwell M, Buchwalter G, Hughes ME, Wagle N, Kirschmeier P, Jänne PA, Paweletz CP, Lin NU, Krop IE, Barry WT, Winer EP, Brown M, Jeselsohn R. Unraveling the clinicopathological features driving the emergence of ESR1 mutations in metastatic breast cancer. Npj Breast Cancer 2018, 4: 22. PMID: 30083595, PMCID: PMC6072793, DOI: 10.1038/s41523-018-0075-5.Peer-Reviewed Original ResearchMetastatic breast cancerESR1 mutationsBreast cancerMetastatic settingClinicopathological featuresPIK3CA mutationsAromatase inhibitorsER-positive metastatic breast cancerDetailed clinical dataSpecific systemic treatmentMetastatic treatmentDistant recurrenceMetastatic diseaseSystemic treatmentPrimary diseaseEndocrine resistanceCDK4/6 inhibitorsPathological featuresFulvestrant treatmentClinical dataPrior treatmentSignificant associationPatientsCancerPrevalence
2016
Heterogeneity and clinical significance of ESR1 mutations in ER-positive metastatic breast cancer patients receiving fulvestrant
Spoerke JM, Gendreau S, Walter K, Qiu J, Wilson TR, Savage H, Aimi J, Derynck MK, Chen M, Chan IT, Amler LC, Hampton GM, Johnston S, Krop I, Schmid P, Lackner MR. Heterogeneity and clinical significance of ESR1 mutations in ER-positive metastatic breast cancer patients receiving fulvestrant. Nature Communications 2016, 7: 11579. PMID: 27174596, PMCID: PMC4869259, DOI: 10.1038/ncomms11579.Peer-Reviewed Original ResearchMeSH KeywordsAdultAgedAged, 80 and overAntineoplastic Combined Chemotherapy ProtocolsBreastBreast NeoplasmsClass I Phosphatidylinositol 3-KinasesDisease-Free SurvivalDNA Mutational AnalysisDNA, NeoplasmDrug Resistance, NeoplasmEstradiolEstrogen Receptor alphaEstrogen Receptor AntagonistsEstrogensFemaleFulvestrantHumansIndazolesMiddle AgedMutationProtein Kinase InhibitorsSulfonamidesConceptsMetastatic breast cancer patientsESR1 mutationsBreast cancer patientsCancer patientsPan-PI3K inhibitorPIK3CA-mutated tumorsProgression-free survivalMetastatic breast cancerWild-type patientsClinical trial samplesMutation allele frequencyInhibitor therapyFulvestrant treatmentBreast cancerClinical significanceClinical resistancePatientsBaseline samplesHotspot mutationsK inhibitorsTherapyLongitudinal analysisTrial samplesESR1Distinct clones
2014
Emergence of Constitutively Active Estrogen Receptor-α Mutations in Pretreated Advanced Estrogen Receptor–Positive Breast Cancer
Jeselsohn R, Yelensky R, Buchwalter G, Frampton G, Meric-Bernstam F, Gonzalez-Angulo AM, Ferrer-Lozano J, Perez-Fidalgo JA, Cristofanilli M, Gómez H, Arteaga CL, Giltnane J, Balko JM, Cronin MT, Jarosz M, Sun J, Hawryluk M, Lipson D, Otto G, Ross JS, Dvir A, Soussan-Gutman L, Wolf I, Rubinek T, Gilmore L, Schnitt S, Come SE, Pusztai L, Stephens P, Brown M, Miller VA. Emergence of Constitutively Active Estrogen Receptor-α Mutations in Pretreated Advanced Estrogen Receptor–Positive Breast Cancer. Clinical Cancer Research 2014, 20: 1757-1767. PMID: 24398047, PMCID: PMC3998833, DOI: 10.1158/1078-0432.ccr-13-2332.Peer-Reviewed Original ResearchConceptsEstrogen receptor α mutationBreast cancerAdvanced estrogen receptor-positive breast cancerEstrogen receptor-positive breast cancerReceptor-positive breast cancerHormone-dependent breast cancerPrimary breast cancerSubgroup of patientsER-negative tumorsLine of treatmentCodon 537ER- diseaseEndocrine treatmentTreatment-naïveESR1 mutationsMetastatic diseaseCell line modelsEndocrine resistanceMetastatic tumorsReceptor constitutive activityEstrogen receptorMetastatic samplesTumor specimensCancer-related genesNatural history
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