Methylation Analysis of MLH1 Improves the Selection of Patients for Genetic Testing in Lynch Syndrome
Pérez-Carbonell L, Alenda C, Payá A, Castillejo A, Barberá VM, Guillén C, Rojas E, Acame N, Gutiérrez-Aviñó FJ, Castells A, Llor X, Andreu M, Soto JL, Jover R. Methylation Analysis of MLH1 Improves the Selection of Patients for Genetic Testing in Lynch Syndrome. Journal Of Molecular Diagnostics 2010, 12: 498-504. PMID: 20489114, PMCID: PMC2893635, DOI: 10.2353/jmoldx.2010.090212.Peer-Reviewed Original ResearchConceptsSelection of patientsBRAF V600E mutationV600E mutationGenetic testingLynch syndromeMLH1 mutationsColorectal cancer patientsNegative colorectal cancerMLH1-negative colorectal cancersMLH1 methylation statusGermline MLH1 mutationMLH1 protein expressionInactivation of MLH1MS-MLPAColorectal cancerCancer patientsBRAF mutationsExclusion criteriaPatientsCorresponding patientsMLH1 methylationSporadic originTumor DNAGermline mutationsProtein expressionAberrant Gene Promoter Methylation Associated with Sporadic Multiple Colorectal Cancer
Gonzalo V, Lozano JJ, Muñoz J, Balaguer F, Pellisé M, de Miguel C, Andreu M, Jover R, Llor X, Giráldez MD, Ocaña T, Serradesanferm A, Alonso-Espinaco V, Jimeno M, Cuatrecasas M, Sendino O, Castellví-Bel S, Castells A, . Aberrant Gene Promoter Methylation Associated with Sporadic Multiple Colorectal Cancer. PLOS ONE 2010, 5: e8777. PMID: 20098741, PMCID: PMC2808250, DOI: 10.1371/journal.pone.0008777.Peer-Reviewed Original ResearchConceptsSolitary tumorSporadic CRCTumor multiplicityGene promoter methylationInflammatory bowel diseaseMultiple colorectal cancersPrevention of patientsPromoter methylationLogistic regression analysisBinomial logistic regression analysisQuantitative methylation-specific PCRAberrant gene promoter methylationCancer multiplicitySolitary CRCBowel diseasePrimary CRCColorectal cancerMultiple lesionsColorectal mucosaLynch syndromeMethylation-specific PCRPolyposis syndromeKey tumor suppressor genesHereditary syndromesExclusion criteria