2019
Scoring colorectal cancer risk with an artificial neural network based on self-reportable personal health data
Nartowt BJ, Hart GR, Roffman DA, Llor X, Ali I, Muhammad W, Liang Y, Deng J. Scoring colorectal cancer risk with an artificial neural network based on self-reportable personal health data. PLOS ONE 2019, 14: e0221421. PMID: 31437221, PMCID: PMC6705772, DOI: 10.1371/journal.pone.0221421.Peer-Reviewed Original ResearchConceptsNational Health Interview SurveyUnited States Preventative Services Task ForceColorectal cancerPredictive valueDiagnosis of CRCColorectal cancer riskHealth Interview SurveyHigh-risk categoryNegative predictive valuePositive predictive valueMultivariable prediction modelHealth dataUSPSTF guidelinesRisk score methodCRC riskFamily historyCancer riskHigh riskAge 50Individual prognosisLower riskPersonal health dataClinical applicabilityInterview SurveyCancer
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 OUTCOMETFAP2E Methylation and Expression Status Does Not Predict Response to 5-FU-based Chemotherapy in Colorectal Cancer
Murcia O, Jover R, Egoavil C, Perez-Carbonell L, Juárez M, Hernández-Illán E, Rojas E, Alenda C, Balaguer F, Andreu M, Llor X, Castells A, Boland CR, Goel A. TFAP2E Methylation and Expression Status Does Not Predict Response to 5-FU-based Chemotherapy in Colorectal Cancer. Clinical Cancer Research 2018, 24: 2820-2827. PMID: 29535127, PMCID: PMC7396148, DOI: 10.1158/1078-0432.ccr-17-2940.Peer-Reviewed Original ResearchConceptsColorectal cancerProtein expressionClinic-based trialsStage IV patientsAdvanced colorectal cancerDisease-free survivalColorectal cancer patientsPredictors of responseClin Cancer ResColorectal cancer samplesIV patientsMulticenter cohortMethylation statusPatient cohortCancer patientsIHC analysisIHC stainingPatientsStage IICancer ResChemotherapyCancerCancer samplesCohortHypermethylation status
2014
IGFBP3 Methylation Is a Novel Diagnostic and Predictive Biomarker in Colorectal Cancer
Perez-Carbonell L, Balaguer F, Toiyama Y, Egoavil C, Rojas E, Guarinos C, Andreu M, Llor X, Castells A, Jover R, Boland CR, Goel A. IGFBP3 Methylation Is a Novel Diagnostic and Predictive Biomarker in Colorectal Cancer. PLOS ONE 2014, 9: e104285. PMID: 25127039, PMCID: PMC4134211, DOI: 10.1371/journal.pone.0104285.Peer-Reviewed Original ResearchMeSH KeywordsAgedAged, 80 and overAntineoplastic Combined Chemotherapy ProtocolsBiomarkers, TumorColorectal NeoplasmsCpG IslandsDNA MethylationFemaleHumansInsulin-Like Growth Factor Binding Protein 3Intestinal MucosaMaleMicrosatellite InstabilityMicrosatellite RepeatsMiddle AgedMutationNeoplasm StagingPrognosisPromoter Regions, GeneticProto-Oncogene Proteins B-rafTreatment OutcomeConceptsCRC patientsColorectal cancerPredictive biomarkersStage IICRC cohortPoor disease-free survivalDisease-free survivalIndependent risk factorPopulation-based cohortPotential clinical significancePromising diagnostic biomarkerFree survivalRisk factorsColonic tumorsCRC-specific genesClinical significanceNormal mucosaCancer-related genesPatientsDiagnostic biomarkersTumor tissueBiomarkersCohortCancerHuman cancers
2013
Genetic susceptibility variants associated with colorectal cancer prognosis
Abulí A, Lozano JJ, Rodríguez-Soler M, Jover R, Bessa X, Muñoz J, Esteban-Jurado C, Fernández-Rozadilla C, Carracedo A, Ruiz-Ponte C, Cubiella J, Balaguer F, Bujanda L, Reñé JM, Clofent J, Morillas JD, Nicolás-Pérez D, Xicola RM, Llor X, Piqué JM, Andreu M, Castells A, Castellví-Bel S. Genetic susceptibility variants associated with colorectal cancer prognosis. Carcinogenesis 2013, 34: 2286-2291. PMID: 23712746, DOI: 10.1093/carcin/bgt179.Peer-Reviewed Original ResearchConceptsOutcome overall survivalColorectal cancerGenetic susceptibility variantsG alleleColorectal cancer prognosisDisease-free survivalRecurrence-free intervalSuch prognostic factorsBetter clinical outcomesCancer-related deathBetter OSOverall survivalCRC patientsPrognostic factorsClinical outcomesPatient survivalShorter survivalCRC cohortPredictive biomarkersIntensive treatmentLifestyle habitsHigh riskSusceptibility variantsCancer prognosisSomatic genetic factors
2012
BMP2 / BMP4 colorectal cancer susceptibility loci in northern and southern European populations
Fernandez-Rozadilla C, Palles C, Carvajal-Carmona L, Peterlongo P, Nici C, Veneroni S, Pinheiro M, Teixeira MR, Moreno V, Lamas MJ, Baiget M, Lopez-Fernandez L, Gonzalez D, Brea-Fernandez A, Clofent J, Bujanda L, Bessa X, Andreu M, Xicola R, Llor X, Jover R, Consortium T, Castells A, Castellvi-Bel S, Carracedo A, Tomlinson I, Ruiz-Ponte C. BMP2 / BMP4 colorectal cancer susceptibility loci in northern and southern European populations. Carcinogenesis 2012, 34: 314-318. PMID: 23161572, DOI: 10.1093/carcin/bgs357.Peer-Reviewed Original ResearchMeSH KeywordsAdenocarcinomaAdultAgedBone Morphogenetic Protein 2Bone Morphogenetic Protein 4Case-Control StudiesColorectal NeoplasmsEuropeFemaleFollow-Up StudiesGene FrequencyGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansMaleMicrosatellite RepeatsMiddle AgedNeoplasm StagingPolymorphism, Single NucleotidePrognosisProspective StudiesRisk FactorsConceptsSingle nucleotide polymorphismsMinor allele frequencyCancer susceptibility lociColorectal cancer susceptibility lociSouthern European populationsBone morphogenetic protein (BMP) signalingSusceptibility lociGenome-wide association studiesEuropean populationsMorphogenetic protein signalingSet of populationsDifferential taggingProtein signalingAssociation signalsSouthern European cohortsAssociation studiesDisequilibrium patternsFunctional variantsCausative variantsFurther study designsNucleotide polymorphismsAllele frequenciesLack of replicationLociComplex consequences
2011
Validation Microsatellite Path Score in a Population-Based Cohort of Patients With Colorectal Cancer
Bessa X, Alenda C, Paya A, Álvarez C, Iglesias M, Seoane A, Dedeu JM, Abulí A, Ilzarbe L, Navarro G, Pellise M, Balaguer F, Castellvi-Bel S, LLor X, Castells A, Jover R, Andreu M. Validation Microsatellite Path Score in a Population-Based Cohort of Patients With Colorectal Cancer. Journal Of Clinical Oncology 2011, 29: 3374-3380. PMID: 21788563, DOI: 10.1200/jco.2010.34.3947.Peer-Reviewed Original ResearchMeSH KeywordsAdaptor Proteins, Signal TransducingAdenocarcinomaAdenocarcinoma, MucinousAgedCarcinoma, MedullaryCarcinoma, Signet Ring CellCohort StudiesColorectal NeoplasmsDNA Mismatch RepairFemaleFollow-Up StudiesGerm-Line MutationHeterozygoteHumansMaleMicrosatellite InstabilityMutL Protein Homolog 1MutS Homolog 2 ProteinNuclear ProteinsPrognosisProspective StudiesProto-Oncogene Proteins B-rafSensitivity and SpecificitySpainConceptsPositive predictive valuePathologic featuresColorectal cancerLynch syndromeGermline MSH2 mutationMLH1/MSH2Cohort of patientsColorectal cancer populationSelection of patientsPopulation-based cohortBRAF mutation analysisMicrosatellite instability analysisHigher CRCGermline testingBethesda guidelinesTumor characteristicsPathological scoresTumor locationCancer populationMismatch repairMMR statusFamily historyMutation carriersPatientsMSH2 mutations
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 phenotype
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
Detection of Metachronous Neoplasms in Colorectal Cancer Patients: Identification of Risk Factors
Ballesté B, Bessa X, Piñol V, CastellvíBel S, Castells A, Alenda C, Paya A, Jover R, Xicola RM, Pons E, Llor X, Cordero C, FernandezBañares F, de Castro L, Reñé JM, Andreu M. Detection of Metachronous Neoplasms in Colorectal Cancer Patients: Identification of Risk Factors. Diseases Of The Colon & Rectum 2007, 50: 971-980. PMID: 17468913, DOI: 10.1007/s10350-007-0237-2.Peer-Reviewed Original ResearchMeSH KeywordsAdaptor Proteins, Signal TransducingAgedColonoscopyColorectal NeoplasmsConfidence IntervalsDNA RepairDNA, NeoplasmFemaleFollow-Up StudiesGenetic Predisposition to DiseaseHumansImmunohistochemistryIncidenceMaleMicrosatellite InstabilityMutL Protein Homolog 1MutS Homolog 2 ProteinNeoplasms, Second PrimaryNuclear ProteinsOdds RatioPrognosisProspective StudiesSpainTime FactorsConceptsMetachronous colorectal neoplasmsMetachronous neoplasmsColorectal cancerSynchronous adenomasPredictive factorsColorectal neoplasmsGeneral population-based studyPrevious colorectal cancerIndependent predictive factorsColorectal cancer patientsInflammatory bowel diseasePresence of adenomasSubgroup of patientsPopulation-based studySynchronous colorectal adenomasSpecific surveillance strategiesFamilial adenomatous polyposisDNA microsatellite instabilityBowel diseaseCancer patientsRisk factorsColorectal adenomasSpanish hospitalsFamily historyHigh riskIdentification of MYH Mutation Carriers in Colorectal Cancer: A Multicenter, Case-Control, Population-Based Study
Balaguer F, Castellví–Bel S, Castells A, Andreu M, Muñoz J, Gisbert JP, Llor X, Jover R, de Cid R, Gonzalo V, Bessa X, Xicola RM, Pons E, Alenda C, Payá A, Piqué JM, Association G. Identification of MYH Mutation Carriers in Colorectal Cancer: A Multicenter, Case-Control, Population-Based Study. Clinical Gastroenterology And Hepatology 2007, 5: 379-387. PMID: 17368238, DOI: 10.1016/j.cgh.2006.12.025.Peer-Reviewed Original ResearchMeSH KeywordsAdenomatous Polyposis ColiAge DistributionAgedAged, 80 and overBase Pair MismatchCase-Control StudiesColorectal NeoplasmsConfidence IntervalsDNA GlycosylasesDNA Mutational AnalysisFemaleGenes, APCGenetic Predisposition to DiseaseGerm-Line MutationHeterozygoteHumansIncidenceMaleMiddle AgedOdds RatioPrognosisProspective StudiesReference ValuesRisk AssessmentSex DistributionSpainSurvival RateConceptsColorectal cancerMYH mutationsCRC patientsClinical criteriaMutation carriersMonoallelic carriersGermline MYH mutationsPrevious case-control studyAdditional pathogenic variantsPopulation-based studyBiallelic MYH mutationsCase-control studySynchronous colorectal adenomasCRC riskControl subjectsColorectal adenomasPreventive strategiesCase controlPathogenic variantsSignificant associationAbstractTextBiallelic mutationsMonoallelic mutationsConformation polymorphism analysisSignificant risk
2005
Mismatch repair status in the prediction of benefit from adjuvant fluorouracil chemotherapy in colorectal cancer
Jover R, Zapater P, Castells A, Llor X, Andreu M, Cubiella J, Piñol V, Xicola RM, Bujanda L, Reñé JM, Clofent J, Bessa X, Morillas JD, Nicolás-Pérez D, Payá A, Alenda C. Mismatch repair status in the prediction of benefit from adjuvant fluorouracil chemotherapy in colorectal cancer. Gut 2005, 55: 848. PMID: 16299036, PMCID: PMC1856227, DOI: 10.1136/gut.2005.073015.Peer-Reviewed Original ResearchConceptsMMR-deficient tumorsAdjuvant chemotherapyColorectal cancerMMR statusDeficient tumorsStage IIMismatch repair-deficient colorectal cancersDisease-free survivalStandard clinical criteriaMismatch repair statusDeficient colorectal cancerMSH2 protein expressionLoss of MLH1Lack of benefitShort-term survivalPrediction of benefitFluorouracil chemotherapyMedian followFree survivalOverall survivalRetrospective studyTumor recurrenceClinical criteriaChemotherapyPatients