2020
Frequent loss of mutation-specific mismatch repair protein expression in nonneoplastic endometrium of Lynch syndrome patients
Wong S, Hui P, Buza N. Frequent loss of mutation-specific mismatch repair protein expression in nonneoplastic endometrium of Lynch syndrome patients. Modern Pathology 2020, 33: 1172-1181. PMID: 31932681, DOI: 10.1038/s41379-020-0455-x.Peer-Reviewed Original ResearchConceptsLynch syndrome patientsLynch syndromeMMR protein expressionSporadic endometrial carcinomasSyndrome patientsEndometrial cancerEndometrial glandsEndometrial carcinomaProtein expressionLynch syndrome-associated endometrial cancerGermline mutationsMismatch repair protein expressionMMR protein immunohistochemistryEndometrial cancer patientsNonneoplastic endometriumBenign endometrial tissuesMicrosatellite instability testingMMR protein lossGermline mutation analysisDNA mismatch repair genesRepair protein expressionMismatch repair genesBackground endometriumMMR immunohistochemistryProphylactic hysterectomy
2018
Minimal microsatellite shift in microsatellite instability high endometrial cancer: a significant pitfall in diagnostic interpretation
Wu X, Snir O, Rottmann D, Wong S, Buza N, Hui P. Minimal microsatellite shift in microsatellite instability high endometrial cancer: a significant pitfall in diagnostic interpretation. Modern Pathology 2018, 32: 650-658. PMID: 30443012, DOI: 10.1038/s41379-018-0179-3.Peer-Reviewed Original ResearchMeSH KeywordsAgedAged, 80 and overBiomarkers, TumorColorectal Neoplasms, Hereditary NonpolyposisDNA-Binding ProteinsEndometrial NeoplasmsFemaleGenetic LociGenetic Predisposition to DiseaseHumansImmunohistochemistryMicrosatellite InstabilityMiddle AgedMismatch Repair Endonuclease PMS2MutL Protein Homolog 1MutS Homolog 2 ProteinPhenotypePolymerase Chain ReactionPredictive Value of TestsReproducibility of ResultsConceptsEndometrial cancerMLH1/PMS2Endometrial carcinomaMSH6 lossMicrosatellite shiftCancer cohortMismatch repair deficiency testingMicrosatellite instability-high colorectal cancerEndometrial cancer cohortLoss of PMS2Clear cell carcinomaColorectal cancer cohortHigh colorectal cancerLynch syndrome familiesMSH2/MSH6PMS2 lossCell carcinomaColorectal cancerDeficiency testingSolid malignanciesColorectal carcinomaCarcinomaCancerIsolated lossMSH-6
2016
Mutational landscape of uterine and ovarian carcinosarcomas implicates histone genes in epithelial–mesenchymal transition
Zhao S, Bellone S, Lopez S, Thakral D, Schwab C, English DP, Black J, Cocco E, Choi J, Zammataro L, Predolini F, Bonazzoli E, Bi M, Buza N, Hui P, Wong S, Abu-Khalaf M, Ravaggi A, Bignotti E, Bandiera E, Romani C, Todeschini P, Tassi R, Zanotti L, Odicino F, Pecorelli S, Donzelli C, Ardighieri L, Facchetti F, Falchetti M, Silasi DA, Ratner E, Azodi M, Schwartz PE, Mane S, Angioli R, Terranova C, Quick CM, Edraki B, Bilgüvar K, Lee M, Choi M, Stiegler AL, Boggon TJ, Schlessinger J, Lifton RP, Santin AD. Mutational landscape of uterine and ovarian carcinosarcomas implicates histone genes in epithelial–mesenchymal transition. Proceedings Of The National Academy Of Sciences Of The United States Of America 2016, 113: 12238-12243. PMID: 27791010, PMCID: PMC5087050, DOI: 10.1073/pnas.1614120113.Peer-Reviewed Original ResearchMeSH KeywordsAgedAged, 80 and overCarcinosarcomaClass I Phosphatidylinositol 3-KinasesDNA-Binding ProteinsEpithelial-Mesenchymal TransitionFemaleGene Expression Regulation, NeoplasticHistonesHumansMiddle AgedMutationOvarian NeoplasmsPTEN PhosphohydrolaseTelomeraseTumor Suppressor Protein p53Uterine NeoplasmsConceptsEpithelial-mesenchymal transitionWhole-exome sequencingHistone gene clusterMutational landscapeStable transgenic expressionExcess of mutationsMultiregion whole-exome sequencingHistone genesEvolutionary historyPhylogenetic relationshipsGene clusterHistone H2AChromosome segmentsSeparate lineagesCancer genesGenetic landscapeUterine serous carcinoma cell linesTransgenic expressionGenesCarcinoma cell linesGene TP53Frequent amplificationFrequent deletionsChromosome 6pInvasive propertiesMismatch repair deficiency testing in clinical practice
Buza N, Ziai J, Hui P. Mismatch repair deficiency testing in clinical practice. Expert Review Of Molecular Diagnostics 2016, 16: 591-604. PMID: 26895074, DOI: 10.1586/14737159.2016.1156533.Peer-Reviewed Original ResearchConceptsLynch syndromeDeficiency testingMismatch repair deficiency testingMicrosatellite instabilityMMR deficiency testingMMR gene deficiencyDNA mismatch repair genesCurrent diagnostic algorithmsLynch syndrome familiesProfound genetic instabilityMicrosatellite instability analysisMismatch repair genesEndometrial malignancyClinical managementUltimate diagnosisClinical OncologyClinical practiceClinical testingTumor tissueSyndromeCancer developmentMMR genesDiagnostic algorithmGene deficiencyGermline DNA
2013
Tissue identity testing of cancer by short tandem repeat polymorphism: pitfalls of interpretation in the presence of microsatellite instability
Much M, Buza N, Hui P. Tissue identity testing of cancer by short tandem repeat polymorphism: pitfalls of interpretation in the presence of microsatellite instability. Human Pathology 2013, 45: 549-555. PMID: 24444463, DOI: 10.1016/j.humpath.2013.10.022.Peer-Reviewed Original ResearchAdaptor Proteins, Signal TransducingAdenocarcinomaAdenosine TriphosphatasesAdultAgedAged, 80 and overAllelesColorectal NeoplasmsDNA Mismatch RepairDNA Repair EnzymesDNA-Binding ProteinsEndometrial NeoplasmsEsophageal NeoplasmsFemaleGenetic LociGenotypeHumansMaleMicrosatellite InstabilityMicrosatellite RepeatsMiddle AgedMismatch Repair Endonuclease PMS2MutL Protein Homolog 1MutS Homolog 2 ProteinNuclear ProteinsPolymorphism, Genetic
2009
Anaplastic oligoastrocytoma in Turcot syndrome
Baehring J, Hui P, Piepmeier J, Bannykh SI. Anaplastic oligoastrocytoma in Turcot syndrome. Journal Of Neuro-Oncology 2009, 95: 293-298. PMID: 19495563, DOI: 10.1007/s11060-009-9928-y.Peer-Reviewed Original ResearchMeSH KeywordsAdaptor Proteins, Signal TransducingAdenosine TriphosphatasesAgedAstrocytomaColorectal Neoplasms, Hereditary NonpolyposisDNA Repair EnzymesDNA-Binding ProteinsDNA, NeoplasmFemaleHumansImmunoenzyme TechniquesMagnetic Resonance ImagingMismatch Repair Endonuclease PMS2MutL Protein Homolog 1MutS Homolog 2 ProteinNuclear ProteinsPedigreePolymerase Chain ReactionConceptsHereditary non-polyposis colorectal cancerTurcot syndromeAnaplastic oligoastrocytomaNon-polyposis colorectal cancerYear old womanHandful of casesColorectal cancerLarge bowelDNA mismatch repair systemOlder womenBrain tumorsTumor DNABody sitesFamilial clusteringGermline mutationsRare variantsSyndromeOligoastrocytomasCancerMismatch repair systemChance occurrenceDetailed molecular dataBowelPathogenesisTumors
2005
Identification of Binding Sites of EVI1 in Mammalian Cells*
Yatsula B, Lin S, Read AJ, Poholek A, Yates K, Yue D, Hui P, Perkins AS. Identification of Binding Sites of EVI1 in Mammalian Cells*. Journal Of Biological Chemistry 2005, 280: 30712-30722. PMID: 16006653, DOI: 10.1074/jbc.m504293200.Peer-Reviewed Original ResearchMeSH KeywordsAmino Acid SequenceAnimalsBase SequenceBinding SitesDNADNA-Binding ProteinsHerpes Simplex Virus Protein Vmw65HumansMDS1 and EVI1 Complex Locus ProteinMiceMolecular Sequence DataMutagenesis, Site-DirectedMutation, MissenseNIH 3T3 CellsOligonucleotide Array Sequence AnalysisProtein ConformationProto-OncogenesRecombinant Fusion ProteinsTranscription FactorsZinc FingersConceptsChromatin immunoprecipitationTarget genesN-terminal DNAPutative target genesVP16 fusion proteinTranscription start siteN-terminal domainGel shift assaysNIH 3T3 cellsZFPM2/FOG2Transcriptional activatorEndogenous genesMissense mutantsEVI1 bindsZinc fingerMammalian cellsStart siteShift assaysMutant formsFusion proteinTransactivation studiesSequence analysisGenesEVI1Binding sites
2004
STAT3-Mediated Signaling in the Determination of Rod Photoreceptor Cell Fate in Mouse Retina
Zhang SS, Wei J, Qin H, Zhang L, Xie B, Hui P, Deisseroth A, Barnstable CJ, Fu XY. STAT3-Mediated Signaling in the Determination of Rod Photoreceptor Cell Fate in Mouse Retina. Investigative Ophthalmology & Visual Science 2004, 45: 2407-2412. PMID: 15223824, DOI: 10.1167/iovs.04-0003.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsBlotting, WesternCalcium-Calmodulin-Dependent Protein KinasesCell DifferentiationCell DivisionCiliary Neurotrophic FactorDNA-Binding ProteinsEnzyme InhibitorsFemaleFlavonoidsFluorescent Antibody Technique, IndirectImmunoenzyme TechniquesInterleukin-6Leukemia Inhibitory FactorMAP Kinase Signaling SystemMiceMitogen-Activated Protein KinasesPregnancyRetinaRetinal Rod Photoreceptor CellsSignal TransductionSTAT3 Transcription FactorTrans-ActivatorsConceptsMitogen-activated protein kinaseCiliary neurotrophic factorLeukemia inhibitory factorPhotoreceptor cell fateCell fate decisionsRod photoreceptor cell fateRod photoreceptor differentiationDominant negative STAT3Mouse retina developmentActivator of transcriptionMAPK inhibitor PD98059Activation of STAT3Fate decisionsCell fateTransduction pathwaysProtein kinasePhotoreceptor developmentRod developmentSignal transducerInhibitor PD98059Photoreceptor differentiationRetina explant culturesMouse retinaMAPK pathwayRetina development
1998
Identification of candidate target genes for EVI-1, a zinc finger oncoprotein, using a novel selection strategy
Kim J, Hui P, Yue D, Aycock J, Leclerc C, Bjoring A, Perkins A. Identification of candidate target genes for EVI-1, a zinc finger oncoprotein, using a novel selection strategy. Oncogene 1998, 17: 1527-1538. PMID: 9794230, DOI: 10.1038/sj.onc.1202331.Peer-Reviewed Original ResearchMeSH Keywords3T3 CellsAnimalsBase SequenceBinding SitesCalcium ChannelsDNA-Binding ProteinsDNA, ComplementaryEscherichia coliExonsGenomic LibraryHaploidyHumansInositol 1,4,5-Trisphosphate ReceptorsMDS1 and EVI1 Complex Locus ProteinMiceMolecular Sequence DataOncogene ProteinsProto-OncogenesReceptors, Cytoplasmic and NuclearRecombinant Fusion ProteinsSequence AlignmentTranscription FactorsTumor Cells, CulturedZinc FingersConceptsGenomic fragmentEvi-1Target genesZinc finger proteinHybrid selectionCandidate target genesTetracycline-regulated systemChimeric activatorFinger proteinHaploid genomeMouse cDNAMouse genomeGene sequencesMouse DNAFusion proteinTwo-step selectionGenesGenomeProteinCDNANovel selection strategyFragmentsHigh affinitySublibrariesITPR2