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
2014
Prevalence of somatic mutl homolog 1 promoter hypermethylation in Lynch syndrome colorectal cancer
Moreira L, Muñoz J, Cuatrecasas M, Quintanilla I, Leoz ML, Carballal S, Ocaña T, López‐Cerón M, Pellise M, Castellví‐Bel S, Jover R, Andreu M, Carracedo A, Xicola RM, Llor X, Boland CR, Goel A, Castells A, Balaguer F. Prevalence of somatic mutl homolog 1 promoter hypermethylation in Lynch syndrome colorectal cancer. Cancer 2014, 121: 1395-1404. PMID: 25557234, PMCID: PMC10508888, DOI: 10.1002/cncr.29190.Peer-Reviewed Original Research
2010
Extent of prevalence and size of flat neoplasms in a heterogeneous population undergoing routine colorectal cancer screening
Kim J, Rami P, O’Toole J, Llor X, Carroll RE, Benya RV. Extent of prevalence and size of flat neoplasms in a heterogeneous population undergoing routine colorectal cancer screening. Colorectal Disease 2010, 12: 471-476. PMID: 19298579, DOI: 10.1111/j.1463-1318.2009.01822.x.Peer-Reviewed Original ResearchConceptsExtent of prevalenceFlat neoplasmsAdvanced pathologyRoutine colorectal cancer screeningColorectal cancer screeningFlat colorectal neoplasmsColorectal cancerMean agePatient populationScreening clinicCancer screeningColorectal neoplasmsRoutine screeningGeneral populationNeoplasmsPrevalencePatientsAfrican AmericansPathologyHeterogeneous populationDiverse populationsPopulationScreeningClinicLesions