2017
Spectrum of germline mutations in smokers and non-smokers in Brazilian non-small-cell lung cancer (NSCLC) patients
Couto PP, Bastos-Rodrigues L, Schayek H, Melo FM, Lisboa RGC, Miranda DM, Vilhena A, Bale AE, Friedman E, De Marco L. Spectrum of germline mutations in smokers and non-smokers in Brazilian non-small-cell lung cancer (NSCLC) patients. Carcinogenesis 2017, 38: 1112-1118. PMID: 28968711, DOI: 10.1093/carcin/bgx089.Peer-Reviewed Original ResearchConceptsCell lung cancer patientsLung cancer patientsLung cancerSmoking statusCancer patientsWhole-exome sequencingGermline mutationsTP53 mutationsTP53 germline mutationsCell lung cancerCancer-related mortalityDistinct pathogenic mutationsMajor risk factorTumor-derived DNAMultiple cancer typesSmoker patientsGermline missense variantsNovel sequence variantsRisk factorsLeading causeR337H TP53 mutationLC pathogenesisSame patientLC casesPatients
2009
Characterization of DNA damage-dependent cell cycle checkpoints in a menin-deficient model
Kottemann MC, Bale AE. Characterization of DNA damage-dependent cell cycle checkpoints in a menin-deficient model. DNA Repair 2009, 8: 944-952. PMID: 19608464, PMCID: PMC2745199, DOI: 10.1016/j.dnarep.2009.06.001.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsAtaxia Telangiectasia Mutated ProteinsCell CycleCell Cycle ProteinsCyclin-Dependent Kinase Inhibitor p21DNA DamageEmbryo, MammalianFibroblastsG1 PhaseHistone-Lysine N-MethyltransferaseMiceModels, BiologicalMutagensMutationMyeloid-Lymphoid Leukemia ProteinPhenotypePromoter Regions, GeneticProtein BindingProtein Serine-Threonine KinasesProto-Oncogene ProteinsRadiation, IonizingS PhaseTumor Suppressor Protein p53Up-RegulationConceptsP21 promoterDNA damage-dependent mannerPositive transcriptional regulatorDamage-dependent mannerNormal cellular physiologyCell cycle controlLoss of Men1Intra-S checkpointCell cycle checkpointsMouse embryonic fibroblastsCyclin-dependent kinase inhibitorG1/STranscriptional regulationTranscriptional regulatorsCheckpoint responseCellular physiologyCycle checkpointsHistone methyltransferaseDNA repairEmbryonic fibroblastsTranscriptional capacityCycle controlTarget p21MeninCancer pathogenesis
2003
BRCA Status, Molecular Markers, and Clinical Variables in Early, Conservatively Managed Breast Cancer
Kim S, Rimm D, Carter D, Khan A, Parisot N, Franco MA, Bale A, Haffty BG. BRCA Status, Molecular Markers, and Clinical Variables in Early, Conservatively Managed Breast Cancer. The Breast Journal 2003, 9: 167-174. PMID: 12752624, DOI: 10.1046/j.1524-4741.2003.09307.x.Peer-Reviewed Original ResearchMeSH KeywordsAdultBiomarkers, TumorBRCA1 ProteinBRCA2 ProteinBreast NeoplasmsCohort StudiesFemaleGenetic Predisposition to DiseaseHumansImmunohistochemistryMutationNeoplasm Recurrence, LocalPremenopauseProliferating Cell Nuclear AntigenReceptor, ErbB-2Receptors, EstrogenReceptors, ProgesteroneTumor Suppressor Protein p53ConceptsHER-2/neuEstrogen receptorProgesterone receptorBRCA-1BRCA-2Breast cancerBRCA mutationsProliferating Cell Nuclear AntigenMolecular biologic markersPremenopausal breast cancerBRCA-1 mutationsBreast-conserving surgeryWide local excisionBreast cancer patientsPrimary breast tumor tissuesAvailable paraffin blocksBRCA-2 genesBreast tumor tissuesFamilial breast cancerCell nuclear antigenAxillary dissectionPR negativityPremenopausal womenLocal relapseSystemic therapy