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
2013
Prevalence of germline TP53 mutations in HER2+ breast cancer patients
Rath MG, Masciari S, Gelman R, Miron A, Miron P, Foley K, Richardson AL, Krop IE, Verselis SJ, Dillon DA, Garber JE. Prevalence of germline TP53 mutations in HER2+ breast cancer patients. Breast Cancer Research And Treatment 2013, 139: 193-198. PMID: 23580068, PMCID: PMC4280061, DOI: 10.1007/s10549-012-2375-z.Peer-Reviewed Original ResearchConceptsGermline TP53 mutationsLi-Fraumeni syndromeBreast cancer ageBreast cancerTP53 mutationsCancer ageER/PR statusYoung womenGermline TP53 mutation carriersGermline TP53 testingUnselected young womenTP53 mutation carriersBreast cancer patientsCohort of womenFamily cancer historyPotential clinical impactTP53 carriersTP53 testingPR statusSingle centerFrequent tumorsCancer historyCancer patientsChompret criteriaMultiplex ligation-dependent probe amplification (MLPA) technique