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
Mismatch 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