2015
Prevalence of MLH1 constitutional epimutations as a cause of Lynch syndrome in unselected versus selected consecutive series of patients with colorectal cancer
Castillejo A, Hernández-Illán E, Rodriguez-Soler M, Pérez-Carbonell L, Egoavil C, Barberá VM, Castillejo MI, Guarinos C, Martínez-de-Dueñas E, Juan MJ, Sánchez-Heras AB, García-Casado Z, Ruiz-Ponte C, Brea-Fernández A, Juárez M, Bujanda L, Clofent J, Llor X, Andreu M, Castells A, Carracedo A, Alenda C, Payá A, Jover R, Soto JL. Prevalence of MLH1 constitutional epimutations as a cause of Lynch syndrome in unselected versus selected consecutive series of patients with colorectal cancer. Journal Of Medical Genetics 2015, 52: 498. PMID: 25908759, DOI: 10.1136/jmedgenet-2015-103076.Peer-Reviewed Original ResearchMeSH KeywordsAdaptor Proteins, Signal TransducingBase SequenceColorectal Neoplasms, Hereditary NonpolyposisDNA MethylationDNA Mismatch RepairEpigenesis, GeneticGenetic TestingHumansMicrosatellite RepeatsMolecular Sequence DataMutationMutL Protein Homolog 1Nuclear ProteinsPrevalencePromoter Regions, GeneticSequence Analysis, DNAStatistics, NonparametricConceptsColorectal cancerMLH1 expressionConstitutional epimutationsMultiplex ligation-dependent probe amplificationLigation-dependent probe amplificationMethylation-specific multiplex ligation-dependent probe amplificationDiagnosis of CRCConstitutional MLH1 methylationSeries of patientsMismatch repair genesProbe amplificationBethesda guidelinesConsecutive seriesUnselected seriesLynch syndromeUnselected casesUnselected groupGeneral populationUnselected populationPatientsMLH1 methylationNegligible prevalenceGermline alterationsPrevalenceMLH1 epimutations
2008
Aberrant Crypt Focus Size Predicts Distal Polyp Histopathology
Kim J, Ng J, Arozulllah A, Ewing R, Llor X, Carroll RE, Benya RV. Aberrant Crypt Focus Size Predicts Distal Polyp Histopathology. Cancer Epidemiology Biomarkers & Prevention 2008, 17: 1155-1162. PMID: 18483337, DOI: 10.1158/1055-9965.epi-07-2731.Peer-Reviewed Original ResearchConceptsAberrant crypt fociSmall aberrant crypt fociHyperplastic polypsDistal adenomasColorectal cancerOdds ratioLarge aberrant crypt fociRoutine colorectal cancerCancer chemoprevention studiesDistal hyperplastic polypsAfrican AmericansACF prevalenceACF sizePatient ageACF numberChemoprevention studiesCrypt fociSurrogate markerHistopathologic lesionsUnselected populationPatientsTissue planesAdenomasPolypsHistopathology