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
2010
Molecular Anatomy of Breast Cancer Stroma and Its Prognostic Value in Estrogen Receptor–Positive and –Negative Cancers
Bianchini G, Qi Y, Alvarez RH, Iwamoto T, Coutant C, Ibrahim NK, Valero V, Cristofanilli M, Green MC, Radvanyi L, Hatzis C, Hortobagyi GN, Andre F, Gianni L, Symmans WF, Pusztai L. Molecular Anatomy of Breast Cancer Stroma and Its Prognostic Value in Estrogen Receptor–Positive and –Negative Cancers. Journal Of Clinical Oncology 2010, 28: 4316-4323. PMID: 20805453, DOI: 10.1200/jco.2009.27.2419.Peer-Reviewed Original ResearchMeSH KeywordsAmyloid beta-Protein PrecursorAntineoplastic Agents, HormonalBiopsy, Fine-NeedleB-LymphocytesBreast NeoplasmsChi-Square DistributionCollagen Type IVExtracellular Matrix ProteinsFemaleGene Expression ProfilingGene Expression Regulation, NeoplasticHumansMetagenomeNeoplasm Recurrence, LocalPhospholipid Transfer ProteinsPrognosisProportional Hazards ModelsProspective StudiesProtease NexinsProtein Serine-Threonine KinasesReceptor, Transforming Growth Factor-beta Type IIReceptors, Cell SurfaceReceptors, EstrogenReceptors, Transforming Growth Factor betaSurvival AnalysisTamoxifenConceptsER-negative cancersBreast cancer stromaER-positive cancersPrognostic valueCancer stromaNegative cancersProliferative cancersSystemic adjuvant therapyTamoxifen-treated patientsNode-negative patientsEstrogen-receptor positiveStrong prognostic valueCore needle biopsySubset of tumorsLess prognostic valueDistant relapseAdjuvant therapyHazard ratioFavorable prognosisHighest tertilePrognostic scoreCore biopsyBreast cancerImmune functionMultivariate analysis