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
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, NeoplasmDNA-Binding ProteinsFemaleHumansImmunoenzyme 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