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
2012
Sa1774 Prevalence of MLH1 Constitutional Epimutations as a Cause of Lynch Syndrome in Unselected Consecutive Cases of Colorectal Cancer
Rodriguez-Soler M, Pérez-Carbonell L, Guarinos C, Castillejo A, Egoavil C, Barberà V, Martinez-Dueńas E, Castillejo M, Martinez-Canto A, Sanchez-Heras A, Ruiz-Ponte C, Brea A, Alenda C, Paya A, Sanchez-Fortun C, Juarez-Quesada M, Bujanda L, Clofent J, Llor X, Andreu M, Castells A, Carracedo A, Soto J, Jover R. Sa1774 Prevalence of MLH1 Constitutional Epimutations as a Cause of Lynch Syndrome in Unselected Consecutive Cases of Colorectal Cancer. Gastroenterology 2012, 142: s-322. DOI: 10.1016/s0016-5085(12)61211-6.Peer-Reviewed Original ResearchUnselected consecutive casesColorectal cancerConsecutive casesLynch syndromeConstitutional epimutationsSyndromeCancerPrevalence