2018
BMI1 enhancer polymorphism underlies chromosome 10p12.31 association with childhood acute lymphoblastic leukemia
de Smith AJ, Walsh KM, Francis SS, Zhang C, Hansen HM, Smirnov I, Morimoto L, Whitehead TP, Kang A, Shao X, Barcellos LF, McKean‐Cowdin R, Zhang L, Fu C, Wang R, Yu H, Hoh J, Dewan AT, Metayer C, Ma X, Wiemels JL. BMI1 enhancer polymorphism underlies chromosome 10p12.31 association with childhood acute lymphoblastic leukemia. International Journal Of Cancer 2018, 143: 2647-2658. PMID: 29923177, PMCID: PMC6235695, DOI: 10.1002/ijc.31622.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAdultCaliforniaCell Cycle ProteinsChildChromosome MappingChromosomes, Human, Pair 10Core Binding Factor Alpha 1 SubunitEnhancer Elements, GeneticFemaleGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansK562 CellsLinkage DisequilibriumLogistic ModelsMalePhosphotransferases (Alcohol Group Acceptor)Polycomb Repressive Complex 1Polymorphism, Single NucleotidePrecursor Cell Lymphoblastic Leukemia-LymphomaTrans-ActivatorsYoung AdultConceptsFunctional variantsSingle nucleotide polymorphism (SNP) imputationGenome-wide significant associationGenome-wide association studiesStem cell enhancerPutative functional variantsChIP-seq dataRegion of associationGenetic Epidemiology ResearchChromosome 10p12Transcription factorsAdmixed AmericansCell enhancerLead SNPAssociation studiesSNP associationsAssociation analysisLinkage disequilibriumBMI1SNPsTight linkage disequilibriumPIP4K2APreferential bindingRisk allelesVariants
2002
Site-specific translocation and evidence of postnatal origin of the t(1;19) E2A-PBX1 fusion in childhood acute lymphoblastic leukemia
Wiemels JL, Leonard BC, Wang Y, Segal MR, Hunger SP, Smith MT, Crouse V, Ma X, Buffler PA, Pine SR. Site-specific translocation and evidence of postnatal origin of the t(1;19) E2A-PBX1 fusion in childhood acute lymphoblastic leukemia. Proceedings Of The National Academy Of Sciences Of The United States Of America 2002, 99: 15101-15106. PMID: 12415113, PMCID: PMC137550, DOI: 10.1073/pnas.222481199.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentArtificial Gene FusionBase SequenceChildChild, PreschoolChromosome MappingChromosomes, Human, Pair 1Chromosomes, Human, Pair 19FemaleGene RearrangementHomeodomain ProteinsHumansImmunoglobulin Heavy ChainsInfantMaleMolecular Sequence DataOncogene Proteins, FusionPolymerase Chain ReactionPrecursor Cell Lymphoblastic Leukemia-LymphomaReceptors, Antigen, T-CellRestriction MappingTranslocation, GeneticConceptsAcute lymphoblastic leukemiaLymphoblastic leukemiaTime of birthChildhood acute lymphoblastic leukemiaE2A-PBX1 fusionSubtype of leukemiaAntigen receptor rearrangementNeonatal blood spotsIg heavy chainPediatric patientsTCR rearrangementsPrenatal originReceptor rearrangementPostnatal originCell originMolecular subgroupsLeukemiaNatural historyBlood spotsGuthrie cardsPatientsCell linesChromosomal translocationsPBX1 geneGenomic fusion