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
2009
Utility of p16 Immunohistochemistry for the Identification of Lynch Syndrome
Payá A, Alenda C, Pérez-Carbonell L, Rojas E, Soto J, Guillén C, Castillejo A, Barberá V, Carrato A, Castells A, Llor X, Andreu M, Koh J, Enders GH, Benlloch S, Jover R. Utility of p16 Immunohistochemistry for the Identification of Lynch Syndrome. Clinical Cancer Research 2009, 15: 3156-3162. PMID: 19383812, PMCID: PMC2825754, DOI: 10.1158/1078-0432.ccr-08-3116.Peer-Reviewed Original ResearchMeSH KeywordsAdaptor Proteins, Signal TransducingColorectal Neoplasms, Hereditary NonpolyposisCyclin-Dependent Kinase Inhibitor p16DNA MethylationEpigenesis, GeneticFemaleGerm-Line MutationHumansImmunoenzyme TechniquesMaleMiddle AgedMutL Protein Homolog 1Neoplasm ProteinsNuclear ProteinsPrognosisProto-Oncogene Proteins B-rafConceptsP16 immunohistochemistryLynch syndromeP16 expressionGermline mutationsMLH1 expressionMLH1 methylationGenetic testingSelection of patientsMLH1 germline mutationsGood surrogate markerMajority of tumorsPathogenic germline mutationsBRAF V600E mutationColorectal cancerSurrogate markerReal-time PCRBRAF mutationsMismatch repair proteinsNormal stainingMLH1 promoterV600E mutationSignificant associationImmunohistochemistryTumor tissueTumors
2006
Cyclooxygenase 2 Expression in Colorectal Cancer with DNA Mismatch Repair Deficiency
Castells A, Payá A, Alenda C, Rodríguez-Moranta F, Agrelo R, Andreu M, Piñol V, Castellví-Bel S, Jover R, Llor X, Pons E, Elizalde JI, Bessa X, Alcedo J, Saló J, Medina E, Naranjo A, Esteller M, Piqué J, Association F. Cyclooxygenase 2 Expression in Colorectal Cancer with DNA Mismatch Repair Deficiency. Clinical Cancer Research 2006, 12: 1686-1692. PMID: 16551850, DOI: 10.1158/1078-0432.ccr-05-1581.Peer-Reviewed Original ResearchConceptsMMR-deficient colorectal cancerCOX-2 overexpressionCOX-2 expressionHereditary nonpolyposis colorectal cancerColorectal cancer patientsColorectal cancerGerm-line mutationsCancer patientsMLH1 expressionSporadic tumorsNonsteroidal anti-inflammatory drugsCOX-2 protein expressionDefective mismatch repair systemAmsterdam II criteriaDNA mismatch repair deficiencySubset of patientsAnti-inflammatory drugsCyclooxygenase-2 expressionCyclooxygenase-2 (COX-2) overexpressionNonpolyposis colorectal cancerMismatch repair deficiencyLack of responseMulticenter studyPatientsMSH2 expression