2018
Colorectal cancer molecular classification using BRAF, KRAS, microsatellite instability and CIMP status: Prognostic implications and response to chemotherapy
Murcia O, Juárez M, Rodríguez-Soler M, Hernández-Illán E, Giner-Calabuig M, Alustiza M, Egoavil C, Castillejo A, Alenda C, Barberá V, Mangas-Sanjuan C, Yuste A, Bujanda L, Clofent J, Andreu M, Castells A, Llor X, Zapater P, Jover R. Colorectal cancer molecular classification using BRAF, KRAS, microsatellite instability and CIMP status: Prognostic implications and response to chemotherapy. PLOS ONE 2018, 13: e0203051. PMID: 30188916, PMCID: PMC6126803, DOI: 10.1371/journal.pone.0203051.Peer-Reviewed Original ResearchConceptsDisease-free survivalColorectal cancerMicrosatellite instabilityCIMP statusTNM stageKRAS mutationsBRAF mutationsMSS tumorsMolecular classificationAdvanced stage IIRetrospective observational studyPopulation-based cohortCpG island methylator phenotype (CIMP) statusCancer molecular classificationSomatic KRASAdjuvant chemotherapyAdjuvant treatmentCRC patientsPrognostic implicationsWorse prognosisPrognostic valueClinical criteriaObservational studyMolecular subtypesMAIN OUTCOMEColorectal cancer molecular classification using BRAF, KRAS, microsatellite instability, and CIMP status: Prognostic implications and response to chemotherapy.
Murcia O, Juárez M, Hernández-Illán E, Rodriguez-Soler M, Giner-Calabuig M, Alustiza M, Egoavil C, Castillejo A, Alenda C, Mangas C, Barberá V, Yuste A, Bujanda L, Clofent J, Andreu M, Castells A, Llor X, Zapater P, Jover R. Colorectal cancer molecular classification using BRAF, KRAS, microsatellite instability, and CIMP status: Prognostic implications and response to chemotherapy. Journal Of Clinical Oncology 2018, 36: 668-668. DOI: 10.1200/jco.2018.36.4_suppl.668.Peer-Reviewed Original ResearchDisease-free survivalColorectal cancerMicrosatellite instabilityCIMP statusTNM stageKRAS mutationsBRAF mutationsMSS tumorsMolecular classificationAdvanced stage IIRetrospective observational studyPopulation-based cohortCpG island methylator phenotype (CIMP) statusCancer molecular classificationSomatic KRASAdjuvant chemotherapyAdjuvant treatmentCRC patientsWorse prognosisPrognostic implicationsPrognostic valueClinical criteriaObservational studyMolecular subtypesMAIN OUTCOME
2014
Multiple Sporadic Colorectal Cancers Display a Unique Methylation Phenotype
Gonzalo V, Lozano JJ, Alonso-Espinaco V, Moreira L, Muñoz J, Pellisé M, Castellví-Bel S, Bessa X, Andreu M, Xicola RM, Llor X, Ruiz-Ponte C, Carracedo A, Jover R, Castells A, Balaguer F, . Multiple Sporadic Colorectal Cancers Display a Unique Methylation Phenotype. PLOS ONE 2014, 9: e91033. PMID: 24643221, PMCID: PMC3958343, DOI: 10.1371/journal.pone.0091033.Peer-Reviewed Original ResearchMeSH KeywordsAgedAged, 80 and overColorectal NeoplasmsCpG IslandsDNA MethylationEpigenesis, GeneticFemaleGene Expression Regulation, NeoplasticGenome-Wide Association StudyGenotypeHumansMaleMiddle AgedNeoplasms, Multiple PrimaryPhenotypeProto-Oncogene ProteinsProto-Oncogene Proteins B-rafProto-Oncogene Proteins p21(ras)Ras ProteinsConceptsMultiple colorectal cancersColorectal cancerSporadic colorectal cancerMultiple tumorsCpG island methylator phenotypeSolitary tumorTumor multiplicityMismatch repair deficiency statusSynchronous colorectal cancerMethylation phenotypeCIMP-high tumorsDNA methylation profilingDNA hypermethylationBRAF mutationsDeficiency statusSignificant DNA hypermethylationTumorsTumor samplesMethylation profilingMethyLight assayTumor pairsMethylator phenotypeCpG sitesFunctional annotation clusteringPatients
2010
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 DNA Methylation in Hereditary Nonpolyposis Colorectal Cancer Without Mismatch Repair Deficiency
Goel A, Xicola RM, Nguyen T, Doyle BJ, Sohn VR, Bandipalliam P, Rozek LS, Reyes J, Cordero C, Balaguer F, Castells A, Jover R, Andreu M, Syngal S, Boland CR, Llor X. Aberrant DNA Methylation in Hereditary Nonpolyposis Colorectal Cancer Without Mismatch Repair Deficiency. Gastroenterology 2010, 138: 1854-1862.e1. PMID: 20102720, PMCID: PMC2859993, DOI: 10.1053/j.gastro.2010.01.035.Peer-Reviewed Original ResearchMeSH KeywordsAdaptor Proteins, Signal TransducingAdultAgedAged, 80 and overBase SequenceBasic Helix-Loop-Helix Transcription FactorsColorectal Neoplasms, Hereditary NonpolyposisCore Binding Factor Alpha 3 SubunitDNA MethylationDNA Mismatch RepairEpigenesis, GeneticFemaleGene Expression Regulation, NeoplasticGenetic Predisposition to DiseaseGenomic InstabilityHumansLong Interspersed Nucleotide ElementsMaleMicrosatellite RepeatsMiddle AgedMolecular Sequence DataMutationMutL Protein Homolog 1Nerve Tissue ProteinsNuclear ProteinsPedigreePhenotypeProto-Oncogene ProteinsProto-Oncogene Proteins B-rafProto-Oncogene Proteins p21(ras)Ras ProteinsSpainSuppressor of Cytokine Signaling 1 ProteinSuppressor of Cytokine Signaling ProteinsUnited StatesConceptsHereditary nonpolyposis colorectal cancerNonpolyposis colorectal cancerHNPCC tumorsMismatch repair deficiencyColorectal cancerMicrosatellite instabilityGermline mismatch repair (MMR) gene mutationsLynch syndrome cancersMismatch repair gene mutationsRepair deficiencyBest diagnostic approachBRAF mutation statusRepair gene mutationsSporadic microsatellite instabilityV600E BRAF mutationLINE-1 methylationSyndrome cancersAmsterdam criteriaLynch syndromeKRAS mutationsTreatment responseBRAF mutationsHigh indexTumor behaviorCarcinogenic pathways
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
2007
A Prospective, Multicenter, Population-Based Study of BRAF Mutational Analysis for Lynch Syndrome Screening
Bessa X, Ballesté B, Andreu M, Castells A, Bellosillo B, Balaguer F, Castellví–bel S, Paya A, Jover R, Alenda C, Titó L, Martinez–Villacampa M, Vilella A, Xicola RM, Pons E, Llor X, Association G. A Prospective, Multicenter, Population-Based Study of BRAF Mutational Analysis for Lynch Syndrome Screening. Clinical Gastroenterology And Hepatology 2007, 6: 206-214. PMID: 18096441, DOI: 10.1016/j.cgh.2007.10.011.Peer-Reviewed Original ResearchMeSH KeywordsAdaptor Proteins, Signal TransducingAgedAged, 80 and overAmino Acid SubstitutionColorectal Neoplasms, Hereditary NonpolyposisFemaleGenetic Predisposition to DiseaseGenetic TestingGerm-Line MutationHumansMaleMiddle AgedMutL Protein Homolog 1MutL ProteinsNeoplasm ProteinsNuclear ProteinsPolymorphism, GeneticProspective StudiesProto-Oncogene Proteins B-rafConceptsSporadic colorectal cancerColorectal cancerCRC patientsMMR deficiencyBRAF mutationsV600E mutationGenetic testingGermline mutationsHereditary nonpolyposis colorectal cancerLynch syndrome screeningGermline genetic testingMLH1 germline mutationsPopulation-based studyGene mutation carriersMMR genes MLH1Nonpolyposis colorectal cancerBRAF V600E mutationBRAF mutational analysisMLH1 promoter methylationBRAF mutation analysisBRAF V600E mutation analysisMutation analysisBRAF analysisLynch syndromeFamily history