2021
Molecular drivers of tumor progression in microsatellite stable APC mutation-negative colorectal cancers
Grant A, Xicola RM, Nguyen V, Lim J, Thorne C, Salhia B, Llor X, Ellis N, Padi M. Molecular drivers of tumor progression in microsatellite stable APC mutation-negative colorectal cancers. Scientific Reports 2021, 11: 23507. PMID: 34873211, PMCID: PMC8648784, DOI: 10.1038/s41598-021-02806-x.Peer-Reviewed Original ResearchMeSH KeywordsAdenomatous Polyposis ColiAdenomatous Polyposis Coli ProteinColorectal NeoplasmsDisease ProgressionDNA Copy Number VariationsDNA MethylationGenes, APCHumansMicrosatellite InstabilityMicrosatellite RepeatsMutationNeoplastic ProcessesPhenotypePromoter Regions, GeneticWnt Signaling PathwayConceptsAdenomatous polyposis coliMitochondrial activationDNA methylation profilesTumor suppressor gene adenomatous polyposis coliRNA expressionExpression of Axin2Cancer Genome AtlasIntracellular WntMethylation profilesAberrant regulationGene fusionsGenetic inactivationExtracellular WntNumber variationsGenome AtlasPolyposis coliSomatic mutationsAPC mutationsMutationsMolecular driversMutations of BRAFWntRSPO3Tumor progressionExpression
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
2013
Identification of Novel Predictor Classifiers for Inflammatory Bowel Disease by Gene Expression Profiling
Montero-Meléndez T, Llor X, García-Planella E, Perretti M, Suárez A. Identification of Novel Predictor Classifiers for Inflammatory Bowel Disease by Gene Expression Profiling. PLOS ONE 2013, 8: e76235. PMID: 24155895, PMCID: PMC3796518, DOI: 10.1371/journal.pone.0076235.Peer-Reviewed Original ResearchConceptsInflammatory bowel diseaseIBD patientsBowel diseaseGene expression profilingGlucocorticoid receptor degradationDegree of inflammationIntestinal inflammationPatients' qualityPinch biopsiesDifferential diagnosisImmune responseEffective treatmentSide effectsClinical practiceExpression profilingNew biomarkersMicroarray gene expression profilingPersonalized approachPatientsPersonalized therapyCurrent markersTranscriptional signatureInter-individual differencesGene expression profilesInflammation
2010
5-Fluorouracil Adjuvant Chemotherapy Does Not Increase Survival in Patients With CpG Island Methylator Phenotype Colorectal Cancer
Jover R, Nguyen T, Pérez–Carbonell L, Zapater P, Payá A, Alenda C, Rojas E, Cubiella J, Balaguer F, Morillas JD, Clofent J, Bujanda L, Reñé JM, Bessa X, Xicola RM, Nicolás–Pérez D, Castells A, Andreu M, Llor X, Boland CR, Goel A. 5-Fluorouracil Adjuvant Chemotherapy Does Not Increase Survival in Patients With CpG Island Methylator Phenotype Colorectal Cancer. Gastroenterology 2010, 140: 1174-1181. PMID: 21185836, PMCID: PMC3073650, DOI: 10.1053/j.gastro.2010.12.035.Peer-Reviewed Original ResearchMeSH KeywordsAgedAged, 80 and overAntimetabolites, AntineoplasticChemotherapy, AdjuvantCohort StudiesColorectal NeoplasmsCpG IslandsDisease-Free SurvivalDNA MethylationFemaleFluorouracilFollow-Up StudiesHumansKaplan-Meier EstimateMaleMiddle AgedPhenotypePredictive Value of TestsPrognosisProportional Hazards ModelsConceptsCpG island methylator phenotypeCIMP-positive tumorsAdjuvant chemotherapyColorectal cancerCIMP statusColorectal tumorsIndependent predictorsStage IITNM stage IIDisease-free survivalOnly independent predictorPopulation-based cohortResponse of patientsMedian followChemotherapySurvival timePatientsMLH1 promoterMultivariate analysisTumorsAbstractTextMicrosatellite instabilityCIMP-negative tumorsDFSMethylator phenotypeSusceptibility Genetic Variants Associated With Colorectal Cancer Risk Correlate With Cancer Phenotype
Abulí A, Bessa X, González JR, Ruiz–Ponte C, Cáceres A, Muñoz J, Gonzalo V, Balaguer F, Fernández–Rozadilla C, González D, de Castro L, Clofent J, Bujanda L, Cubiella J, Reñé J, Morillas JD, Lanas Á, Rigau J, García A, Latorre M, Saló J, Bañares F, Argüello L, Peña E, Vilella À, Riestra S, Carreño R, Paya A, Alenda C, Xicola RM, Doyle BJ, Jover R, Llor X, Carracedo A, Castells A, Castellví–Bel S, Andreu M, Association G. Susceptibility Genetic Variants Associated With Colorectal Cancer Risk Correlate With Cancer Phenotype. Gastroenterology 2010, 139: 788-796.e6. PMID: 20638935, DOI: 10.1053/j.gastro.2010.05.072.Peer-Reviewed Original ResearchMeSH KeywordsAgedAged, 80 and overCell DifferentiationChromosomes, Human, Pair 16Chromosomes, Human, Pair 8Colorectal NeoplasmsFemaleGene Expression Regulation, NeoplasticGene FrequencyGenetic Association StudiesGenetic Predisposition to DiseaseHumansLogistic ModelsMaleMiddle AgedNeoplasm StagingOdds RatioPedigreePhenotypePolymorphism, Single NucleotideProspective StudiesReproducibility of ResultsRisk AssessmentRisk FactorsSpainConceptsCRC phenotypeColorectal cancer riskPopulation-based cohortAdvanced stage tumorsCancer phenotypeGenetic variantsCRC managementSpanish cohortColorectal adenomasCancer riskFamilial historyG allelePatientsC alleleGenetic Variants AssociatedPrevention programsSurveillance strategiesAbstractTextLogistic regressionRisk correlatesCRCAIMSReplication setCohortVariants AssociatedAberrant 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