2020
A case of acute myeloid leukemia with unusual germline CEBPA mutation: lessons learned about mutation detection, location, and penetrance
Mendoza H, Chen PH, Pine AB, Siddon AJ, Bale AE, Gowda L, Killie A, Richards J, Varin-Tremblay C, Kloss R, Podoltsev NA. A case of acute myeloid leukemia with unusual germline CEBPA mutation: lessons learned about mutation detection, location, and penetrance. Leukemia & Lymphoma 2020, 62: 1251-1254. PMID: 33345654, DOI: 10.1080/10428194.2020.1861276.Peer-Reviewed Case Reports and Technical Notes
2018
A homozygous variant in RRM2B is associated with severe metabolic acidosis and early neonatal death
Penque BA, Su L, Wang J, Ji W, Bale A, Luh F, Fulbright RK, Sarmast U, Sega AG, Konstantino M, Spencer-Manzon M, Pierce R, Yen Y, Lakhani SA. A homozygous variant in RRM2B is associated with severe metabolic acidosis and early neonatal death. European Journal Of Medical Genetics 2018, 62: 103574. PMID: 30439532, DOI: 10.1016/j.ejmg.2018.11.008.Peer-Reviewed Original Research
2014
Spectrum of somatic EGFR, KRAS, BRAF, PTEN mutations and TTF-1 expression in Brazilian lung cancer patients
CARNEIRO JG, COUTO PG, BASTOS-RODRIGUES L, BICALHO MA, VIDIGAL PV, VILHENA A, AMARAL NF, BALE AE, FRIEDMAN E, DE MARCO L. Spectrum of somatic EGFR, KRAS, BRAF, PTEN mutations and TTF-1 expression in Brazilian lung cancer patients. Genetics Research 2014, 96: e002. PMID: 24594201, PMCID: PMC7045132, DOI: 10.1017/s0016672314000032.Peer-Reviewed Original ResearchMeSH KeywordsAdenocarcinomaAdultAgedAged, 80 and overBrazilCarcinoma, Non-Small-Cell LungCarcinoma, Squamous CellCase-Control StudiesDNA-Binding ProteinsErbB ReceptorsFemaleGenetic Predisposition to DiseaseHumansImmunoenzyme TechniquesLung NeoplasmsMaleMiddle AgedMutationNeoplasm StagingPolymerase Chain ReactionPrognosisProto-Oncogene ProteinsProto-Oncogene Proteins B-rafProto-Oncogene Proteins p21(ras)PTEN PhosphohydrolaseRas ProteinsTranscription FactorsConceptsNon-small cell lung cancerSquamous cell carcinomaTTF-1 expressionLung cancerTTF-1PTEN mutationsBrazilian lung cancer patientsCancer typesPI3K pathway inhibitorsCell lung cancerCancer-related mortalityLung cancer patientsSomatic mutationsCommon somatic mutationsNSCLC patientsInter-individual variabilityCancer patientsEGFR mutationsTherapeutic responseBrazilian patientsHigh prevalenceKRAS mutationsLung adenocarcinomaSomatic EGFRTreatment response
2011
Hereditary Melanoma
Bonadies DC, Bale AE. Hereditary Melanoma. Current Problems In Cancer 2011, 35: 162-172. PMID: 21911180, DOI: 10.1016/j.currproblcancer.2011.07.001.Peer-Reviewed Original Research
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
2008
MEN1 and FANCD2 mediate distinct mechanisms of DNA crosslink repair
Marek LR, Kottemann MC, Glazer PM, Bale AE. MEN1 and FANCD2 mediate distinct mechanisms of DNA crosslink repair. DNA Repair 2008, 7: 476-486. PMID: 18258493, PMCID: PMC2277339, DOI: 10.1016/j.dnarep.2007.12.009.Peer-Reviewed Original ResearchConceptsGenetic interaction studiesFanconi anemia genesDNA crosslink repairVivo reporter systemLoss of Men1Large deletionsMutation frequencyTumor suppressor geneSame repair processICL sensitivityRepair processSingle base deletionDrosophila geneticsCrosslink repairICL repairGenetic interactionsMutant fliesCell mutantsFA genesHomopolymeric tractsReporter systemWild typeMutantsInteraction studiesSuppressor gene
2006
Multiple endocrine neoplasia type 1 (MEN1) as a cancer predisposition syndrome: clues into the mechanisms of MEN1-related carcinogenesis.
Busygina V, Bale AE. Multiple endocrine neoplasia type 1 (MEN1) as a cancer predisposition syndrome: clues into the mechanisms of MEN1-related carcinogenesis. The Yale Journal Of Biology And Medicine 2006, 79: 105-14. PMID: 17940620, PMCID: PMC1994794.Peer-Reviewed Original ResearchCongenital linear unilateral basal cell nevus: a case report with patched gene molecular studies
Brailey L, Davis T, Kolker S, Murry T, Thomas D, Bale A, Ruhoy S. Congenital linear unilateral basal cell nevus: a case report with patched gene molecular studies. Journal Of Cutaneous Pathology 2006, 34: 65-70. PMID: 17214858, DOI: 10.1111/j.1600-0560.2006.00580.x.Peer-Reviewed Original ResearchConceptsBasal cell carcinomaBasal cell nevusNevoid basal cell carcinoma syndromeBasal cell carcinoma syndromeCell carcinomaHistologic examinationCarcinoma syndromeLinear unilateral basal cell nevusPTCH mutationsBenign clinical behaviorPTCH locusSMO genesCase reportClinical behaviorDifferential diagnosisPatient's lesionFollicular hamartomaLoss of heterozygositySMO mutationsRight flankCarcinomaLesionsNeviShort tandem repeat DNA analysisPTCHDrosophila homologs of FANCD2 and FANCL function in DNA repair
Marek LR, Bale AE. Drosophila homologs of FANCD2 and FANCL function in DNA repair. DNA Repair 2006, 5: 1317-1326. PMID: 16860002, DOI: 10.1016/j.dnarep.2006.05.044.Peer-Reviewed Original ResearchConceptsCross-linking agentsDNA repairFA genesDrosophila homologFanconi anemiaFA pathwayMonoubiquitination of FANCD2Elevated mutation ratesS-phase checkpointProgressive bone marrow failureSpontaneous chromosomal aberrationsMinimal machineryFly homologMammalian cellsAdditional genesFANCD2FANCLLinear pathwayDevelopmental defectsMutation rateCellular defectsHomologGenesBone marrow failureMutants
2005
Cardiac and CNS defects in a mouse with targeted disruption of suppressor of fused
Cooper AF, Yu KP, Brueckner M, Brailey LL, Johnson L, McGrath JM, Bale AE. Cardiac and CNS defects in a mouse with targeted disruption of suppressor of fused. Development 2005, 132: 4407-4417. PMID: 16155214, DOI: 10.1242/dev.02021.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsBody PatterningGenetic Predisposition to DiseaseGenotypeHeart Defects, CongenitalHedgehog ProteinsIntracellular Signaling Peptides and ProteinsMembrane ProteinsMiceMice, Inbred C57BLMice, TransgenicMutationNeoplasmsNeural Tube DefectsPatched ReceptorsPatched-1 ReceptorReceptors, Cell SurfaceRepressor ProteinsSignal TransductionTrans-ActivatorsConceptsNegative regulatorDpc embryosHh pathwayTargeted disruptionSuppressor of FusedDorsoventral patterningExcess HhCompound mutantsEmbryonic developmentSomatic cellsFused geneLeft-right asymmetryDevelopmental defectsNodal expressionMutantsNeural tubeLaterality defectsHedgehog pathwayTumor predispositionNegative modulatorSuppressorCancer developmentDevelopmental abnormalitiesNode developmentPathway
2004
Hypermutability in a Drosophila model for multiple endocrine neoplasia type 1
Busygina V, Suphapeetiporn K, Marek LR, Stowers RS, Xu T, Bale AE. Hypermutability in a Drosophila model for multiple endocrine neoplasia type 1. Human Molecular Genetics 2004, 13: 2399-2408. PMID: 15333582, DOI: 10.1093/hmg/ddh271.Peer-Reviewed Original ResearchConceptsDNA cross-linking agentsNucleotide excision repairDNA damage-induced mutationsTumor suppressor geneDamage-induced mutationsDrosophila homologGenomic integrityHuman meninMutant fliesBiochemical functionsTranscriptional modulationNuclear proteinsDrosophila modelProtein 50Novel memberExcision repairNull allelesMolecular mechanismsCancer genesHistone deacetylaseSuppressor geneHomozygous inactivationMnn1Normal fliesGenes
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
2002
Immunolocalization of PTCH Protein in Odontogenic Cysts and Tumors
Barreto D, Bale A, De Marco L, Gomez R. Immunolocalization of PTCH Protein in Odontogenic Cysts and Tumors. Journal Of Dental Research 2002, 81: 757-760. PMID: 12407090, DOI: 10.1177/0810757.Peer-Reviewed Original ResearchOutcome of conservatively managed early-onset breast cancer by BRCA1/2 status
Haffty BG, Harrold E, Khan AJ, Pathare P, Smith TE, Turner BC, Glazer PM, Ward B, Carter D, Matloff E, Bale AE, Alvarez-Franco M. Outcome of conservatively managed early-onset breast cancer by BRCA1/2 status. The Lancet 2002, 359: 1471-1477. PMID: 11988246, DOI: 10.1016/s0140-6736(02)08434-9.Peer-Reviewed Original ResearchConceptsSecond primary tumorsContralateral breast cancerBreast cancerPrimary tumorBRCA1/2 statusEarly-stage breast cancerYoung womenEarly-onset breast cancerBreast-conserving therapyAge 42 yearsBreast-conserving surgeryLong-term riskGermline BRCA1/2 statusUnderwent lumpectomyPrimary endpointBilateral mastectomySecond cancersSecond tumorContralateral eventsProphylactic agentHigh riskOutcome dataGenetic predispositionSporadic diseaseCancerLow frequency of recurrent BRCA1 and BRCA2 mutations in Spain
Llort G, Muñoz CY, Tuser MP, Guillermo IB, Lluch JR, Bale AE, Franco MA. Low frequency of recurrent BRCA1 and BRCA2 mutations in Spain. Human Mutation 2002, 19: 307-307. PMID: 11857748, DOI: 10.1002/humu.9014.Peer-Reviewed Original ResearchConceptsOvarian cancer familiesBreast/ovarian cancer familiesCancer familiesBRCA2 mutationsDifferent BRCA mutationsFounder mutationHereditary breast cancerStudies of breastSpanish breast/ovarian cancer familiesBRCA mutationsBreast cancerRecurrent BRCA1BRCA1 185delAGSubstantial proportionNovel mutationsBRCA1Previous reportsMutational spectrumBRCA2Spanish familiesEthnic groupsMutations
2001
The hedgehog pathway and basal cell carcinomas
Bale A, Yu K. The hedgehog pathway and basal cell carcinomas. Human Molecular Genetics 2001, 10: 757-762. PMID: 11257109, DOI: 10.1093/hmg/10.7.757.Peer-Reviewed Original ResearchConceptsGenetic studiesHereditary basal cell carcinomasDrosophila genesEmbryonic patterningDevelopmental genesDrosophila melanogasterCell fateHuman homologFruit flyHuman congenital anomaliesBiochemical pathwaysRational medical therapyDevelopmental pathwaysHedgehog pathwayGenesCell growthTumor formationPathwayGorlin syndromeBasal cell carcinomaMutationsHereditary diseaseBirth defectsDrosophilaMelanogaster
2000
Sheep, lilies and human genetics
Bale A. Sheep, lilies and human genetics. Nature 2000, 406: 944-945. PMID: 10984033, DOI: 10.1038/35023197.Peer-Reviewed Original ResearchAnimalsAntineoplastic Agents, PhytogenicBasal Cell Nevus SyndromeCarcinoma, Basal CellDrug Evaluation, PreclinicalEye AbnormalitiesHedgehog ProteinsHumansLiliaceaeMembrane ProteinsMutationPatched ReceptorsProteinsReceptors, Cell SurfaceSheepSheep DiseasesSignal TransductionTrans-ActivatorsVeratrum AlkaloidsIdentification of PATCHED mutations in medulloblastomas by direct sequencing
Dong J, Gailani M, Pomeroy S, Reardon D, Bale A. Identification of PATCHED mutations in medulloblastomas by direct sequencing. Human Mutation 2000, 16: 89-90. PMID: 10874314, DOI: 10.1002/1098-1004(200007)16:1<89::aid-humu18>3.0.co;2-7.Peer-Reviewed Original ResearchConceptsSingle-strand conformational polymorphismSporadic medulloblastomasPTCH genePatched mutationsAberrant splicingPTCH proteinSSCP screeningMutant allelesStrand conformational polymorphismSplice site alterationsChromosome 9q22Nonsense mutationSite alterationMutationsFrequency of mutationsConformational polymorphismDNA samplesMalignant embryonic tumorGenesNovel variantsPTCH mutationsDirect sequencingAllelesNevoid basal cell carcinoma syndromePtch allelePTCH Gene Mutations in Odontogenic Keratocysts
Barreto D, Gomez R, Bale A, Boson W, De Marco L. PTCH Gene Mutations in Odontogenic Keratocysts. Journal Of Dental Research 2000, 79: 1418-1422. PMID: 10890722, DOI: 10.1177/00220345000790061101.Peer-Reviewed Original ResearchMeSH KeywordsAdultAmino Acid SubstitutionBasal Cell Nevus SyndromeBase PairingCodon, NonsenseEmbryonic InductionExonsFemaleFrameshift MutationGene DeletionGenes, Tumor SuppressorHedgehog ProteinsHumansMaleMembrane ProteinsMutationMutation, MissenseOdontogenic CystsPatched ReceptorsPatched-1 ReceptorPolymerase Chain ReactionPolymorphism, Single-Stranded ConformationalProteinsReceptors, Cell SurfaceSequence Analysis, DNASignal TransductionTrans-ActivatorsConceptsPTCH geneTumor suppressor geneSingle-strand conformational polymorphismCell fateTransmembrane proteinHuman homologueSuppressor geneBase pairsGenesNumerous tissuesMissense alterationsSporadic keratocystsSporadic odontogenic keratocystsMutationsSomatic mutationsExon 3Nevoid basal cell carcinoma syndromeConformational polymorphismNovel mutationsPCR productsProteinDirect sequencingGene mutationsPTCH gene mutationsPatched
1999
Medium-chain acyl-CoA dehydrogenase deficiency: Sudden and unexpected death of a 45 year old woman
Raymond K, Bale A, Barnes A, Rinaldo P. Medium-chain acyl-CoA dehydrogenase deficiency: Sudden and unexpected death of a 45 year old woman. Genetics In Medicine 1999, 1: 293-294. PMID: 11258631, DOI: 10.1097/00125817-199909000-00008.Peer-Reviewed Original Research