2017
Phylogenetic analysis of metastatic progression in breast cancer using somatic mutations and copy number aberrations
Brown D, Smeets D, Székely B, Larsimont D, Szász AM, Adnet PY, Rothé F, Rouas G, Nagy ZI, Faragó Z, Tőkés AM, Dank M, Szentmártoni G, Udvarhelyi N, Zoppoli G, Pusztai L, Piccart M, Kulka J, Lambrechts D, Sotiriou C, Desmedt C. Phylogenetic analysis of metastatic progression in breast cancer using somatic mutations and copy number aberrations. Nature Communications 2017, 8: 14944. PMID: 28429735, PMCID: PMC5474888, DOI: 10.1038/ncomms14944.Peer-Reviewed Original ResearchConceptsDistant metastasisPrimary tumorClonal frequency analysisMultiple metastatic lesionsBreast cancer disseminationBreast cancer progressionSomatic mutationsWhole-exome sequencingAvailable metastasesMetastatic lesionsMetastatic precursorsPrimary lesionMetastatic tumorsDisease progressionBreast cancerPatterns of disseminationMetastasisMetastatic progressionCancer disseminationPatientsCancer progressionCopy number profilingCopy number aberrationsTumorsMonoclonal origin
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
2010
Stability of estrogen receptor status in breast carcinoma
Gong Y, Han EY, Guo M, Pusztai L, Sneige N. Stability of estrogen receptor status in breast carcinoma. Cancer 2010, 117: 705-713. PMID: 20939012, DOI: 10.1002/cncr.25506.Peer-Reviewed Original ResearchConceptsER statusBreast carcinomaEndocrine therapyMetastatic sitesPrimary tumorMetastatic tumorsMetastatic breast carcinomaEstrogen receptor statusER discordanceDisease courseReceptor statusSystemic therapyClinical courseER expressionER testingClinical managementNegative conversionER assaysDiscordant casesCarcinomaPositive conversionTumorsPatientsMetastasisTherapy