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
Intra‐operative evaluation of prophylactic hysterectomy and salpingo‐oophorectomy specimens in hereditary gynaecological cancer syndromes
Wong S, Ratner E, Buza N. Intra‐operative evaluation of prophylactic hysterectomy and salpingo‐oophorectomy specimens in hereditary gynaecological cancer syndromes. Histopathology 2018, 73: 109-123. PMID: 29484698, DOI: 10.1111/his.13503.Peer-Reviewed Original ResearchConceptsIntra-operative evaluationTotal hysterectomyLynch syndromePermanent sectionsSalpingo-oophorectomy specimensFrozen section diagnosisGermline BRCA 1BrCa casesOccult malignancySurgical stagingProphylactic hysterectomyGynaecological malignanciesFinal diagnosisSecond surgeryGross findingsRetrospective analysisBRCA-1Cancer syndromesGross lesionsSection diagnosisDiagnostic discrepanciesFrozen sectionsMalignancyPractice recommendationsLS cases
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