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
Cancerous ‘floater’: a lesson learned about tissue identity testing, endometrial cancer and microsatellite instability
Bossuyt V, Buza N, Ngo NT, Much MA, Asis MC, Schwartz PE, Hui P. Cancerous ‘floater’: a lesson learned about tissue identity testing, endometrial cancer and microsatellite instability. Modern Pathology 2013, 26: 1264-1269. PMID: 23558568, DOI: 10.1038/modpathol.2013.63.Peer-Reviewed Original ResearchConceptsEndometrial curettageBackground endometriumStaging surgeryEndometrial cancerEndometrial polypsEndometrioid adenocarcinomaEndometrial adenocarcinomaFurther workupPap smearSecretory endometriumDiagnostic workupEndometrial cellsDNA genotypingAdenocarcinoma tissuesMolecular testingMicrosatellite instabilityAllelic patternsAdenocarcinomaPatientsConfirmation of contaminationTissue fragmentsCurettageEndometriumWorkupMolecular pathologists