2024
Rare germline variants in cancer-relevant genes are associated with breast cancer risk in young women with high-risk family history
Rozenblit M, Qing T, Ye Y, Zhao H, Hofstatter E, Singh V, Reisenbichler E, Murray M, Pusztai L. Rare germline variants in cancer-relevant genes are associated with breast cancer risk in young women with high-risk family history. Breast Cancer Research And Treatment 2024, 1-6. PMID: 39602012, DOI: 10.1007/s10549-024-07560-y.Peer-Reviewed Original ResearchHigh-risk family historyFamily historyRare germline variantsCancer riskSNP-set kernel association testAssociated with breast cancer riskCancer casesContribution of family historyEarly-onset breast cancerCancer Prevention ClinicBreast cancerBreast cancer riskKernel association testBreast cancer casesCancer-predisposing genesGermline variantsGermline pathogenic variantsYoung womenPrevention clinicSKAT-OBurden testsPathogenic variantsExome sequencing dataAssociation TestLevel alterations
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
Comparison of epigenetic aging in normal breast tissue from women with and without breast cancer.
Hofstatter E, Horvath S, Chagpar A, Wali V, Bossuyt V, Storniolo A, Patwardhan G, Von Wahlde M, Pusztai L. Comparison of epigenetic aging in normal breast tissue from women with and without breast cancer. Journal Of Clinical Oncology 2017, 35: 1522-1522. DOI: 10.1200/jco.2017.35.15_suppl.1522.Peer-Reviewed Original ResearchNormal breast tissueBreast cancerBreast tissueHealthy peersSusan G. Komen Tissue BankIU Simon Cancer CenterNormal breast tissue samplesBreast cancer preventionCohort of womenImportant risk factorKomen Tissue BankLifetime of womenBreast tissue samplesCurrent medicationsTumor characteristicsCancer CenterRisk factorsCancer preventionClinical dataFamily historyReduction mammoplastyHigh riskChronologic ageReproductive historyCancer
2016
Patient preferences regarding incidental genomic findings discovered during tumor profiling
Yushak ML, Han G, Bouberhan S, Epstein L, DiGiovanna MP, Mougalian SS, Sanft TB, Abu-Khalaf MM, Chung GG, Stein SM, Goldberg SB, Pusztai L, Hofstatter EW. Patient preferences regarding incidental genomic findings discovered during tumor profiling. Cancer 2016, 122: 1588-1597. PMID: 26970385, DOI: 10.1002/cncr.29951.Peer-Reviewed Original ResearchConceptsIncidental findingTumor profilingGermline variantsAmbulatory oncology clinicsMajority of patientsStandard of careTumor profiling testsOncology clinicPreventable diseaseFamily historyPatient tumorsInformation patientsPreventable illnessPatientsDisease variablesUnpreventable diseaseUncertain significanceDisclosure preferencesCancerFrequent concernTumorsIllnessProfiling testsDiseaseCurrent study
2013
Clinical experience with exemestane in postmenopausal women at increased risk of breast cancer.
Sorkin M, Lapolt D, Pusztai L, Hofstatter E. Clinical experience with exemestane in postmenopausal women at increased risk of breast cancer. Journal Of Clinical Oncology 2013, 31: 1565-1565. DOI: 10.1200/jco.2013.31.15_suppl.1565.Peer-Reviewed Original ResearchCancer prevention clinicPostmenopausal womenPrevention clinicBreast cancerRetrospective chart reviewPoor patient acceptancePatient acceptance rateRisk of thrombosisCancer chemoprevention agentsBreast atypiaChemoprevention medicationsChemoprevention uptakeChart reviewEligible womenPatient characteristicsPrevention settingMedication uptakeMean ageChemoprevention agentsMedical historyUterine cancerPatient acceptanceFamily historyGeneral populationExemestane
2010
Higher parity and shorter breastfeeding duration
Shinde SS, Forman MR, Kuerer HM, Yan K, Peintinger F, Hunt KK, Hortobagyi GN, Pusztai L, Symmans WF. Higher parity and shorter breastfeeding duration. Cancer 2010, 116: 4933-4943. PMID: 20665494, DOI: 10.1002/cncr.25443.Peer-Reviewed Original ResearchConceptsTriple-negative BCInvasive breast cancerDuration of breastfeedingBreast cancer phenotypeHigher parityOdds ratioBreast cancerTriple-negative breast cancer (TNBC) phenotypeConsecutive case seriesMultivariate logistic regressionConfidence intervalsAfrican American ethnicityCancer phenotypeShort durationCase seriesFamily historyNegative BCProgenitor cell populationsYounger ageLogistic regressionBreastfeedingAmerican ethnicityDemographic informationCell populationsAge