2018
TFAP2E 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
2016
Candidate predisposing germline copy number variants in early onset colorectal cancer patients
Brea-Fernandez AJ, Fernandez-Rozadilla C, Alvarez-Barona M, Azuara D, Ginesta MM, Clofent J, de Castro L, Gonzalez D, Andreu M, Bessa X, Llor X, Xicola R, Jover R, Castells A, Castellvi-Bel S, Capella G, Carracedo A, Ruiz-Ponte C. Candidate predisposing germline copy number variants in early onset colorectal cancer patients. Clinical And Translational Oncology 2016, 19: 625-632. PMID: 27888432, DOI: 10.1007/s12094-016-1576-z.Peer-Reviewed Original ResearchMeSH KeywordsAge of OnsetColorectal NeoplasmsDNA Copy Number VariationsDNA MethylationDNA Mutational AnalysisGenetic Predisposition to DiseaseGenetic VariationGenome-Wide Association StudyHumansIntercellular Signaling Peptides and ProteinsLoss of HeterozygosityNerve Tissue ProteinsReal-Time Polymerase Chain ReactionConceptsColorectal cancerEarly-onset colorectal cancer patientsEarly-onset CRC patientsMethods/patientsWeColorectal cancer patientsHereditary colorectal cancerIdentifiable germline mutationsCopy number variantsPenetrant copy number variantsSomatic mutation analysisCRC patientsGenome-wide copy number analysisCancer patientsReal-time quantitative PCRMultiplex ligation probe amplificationCRC tumorsColorectal carcinogenesisLoss of heterozygosityPatientsSLIT2 geneGenetic susceptibilityDuplex real-time quantitative PCREarly onsetGermline mutationsConclusionsThese findings
2012
Pharmacogenomics in colorectal cancer: a genome-wide association study to predict toxicity after 5-fluorouracil or FOLFOX administration
Fernandez-Rozadilla C, Cazier JB, Moreno V, Crous-Bou M, Guinó E, Durán G, Lamas MJ, López R, Candamio S, Gallardo E, Paré L, Baiget M, Páez D, López-Fernández LA, Cortejoso L, García MI, Bujanda L, González D, Gonzalo V, Rodrigo L, Reñé JM, Jover R, Brea-Fernández A, Andreu M, Bessa X, Llor X, Xicola R, Palles C, Tomlinson I, Castellví-Bel S, Castells A, Ruiz-Ponte C, Carracedo A. Pharmacogenomics in colorectal cancer: a genome-wide association study to predict toxicity after 5-fluorouracil or FOLFOX administration. The Pharmacogenomics Journal 2012, 13: 209-217. PMID: 22310351, DOI: 10.1038/tpj.2012.2.Peer-Reviewed Original ResearchMeSH KeywordsAdultAgedAged, 80 and overAntineoplastic Combined Chemotherapy ProtocolsBiomarkers, PharmacologicalClinical Trials, Phase II as TopicColorectal NeoplasmsDrug-Related Side Effects and Adverse ReactionsFemaleFluorouracilGenome-Wide Association StudyGenotyping TechniquesHumansLeucovorinMaleMiddle AgedOrganoplatinum CompoundsPharmacogeneticsPolymorphism, Single NucleotideTreatment OutcomeConceptsAdverse drug reactionsColorectal cancer patientsEvidence of associationFOLFOX administrationCRC patientsColorectal cancerCancer patientsDrug reactionsDrug AdministrationWide association studyPatientsVariable outcomesInter-individual variationAdministrationAssociation studiesGenome-wide scaleFirst studyWide screeningValidation setFOLFOXOxaliplatinGenetic basisCancer
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 expressionS1993 Comparison Between Routine Immunohistochemistry for Mismatch Repair Proteins Versus Revised Bethesda Guidelines in the Diagnosis of Lynch Syndrome in a Non-Selected Population of Colorectal Cancer Patients
Pérez-Carbonell L, Ruiz-Ponte C, Bessa X, Soto J, Castillejo A, Barberá V, Brea A, Sempere L, Sánchez-Fortún C, Castellvi-Bel S, Balaguer F, Xicola R, Llor X, Abulí A, Andreu M, Alenda C, Payá A, Carracedo A, Castells A, Jover R. S1993 Comparison Between Routine Immunohistochemistry for Mismatch Repair Proteins Versus Revised Bethesda Guidelines in the Diagnosis of Lynch Syndrome in a Non-Selected Population of Colorectal Cancer Patients. Gastroenterology 2010, 138: s-297. DOI: 10.1016/s0016-5085(10)61364-9.Peer-Reviewed Original ResearchColorectal cancer prognosis twenty years later
Bujanda L, Sarasqueta C, Hijona E, Hijona L, Cosme A, Gil I, Elorza JL, Asensio JI, Larburu S, Enríquez-Navascués JM, Jover R, Balaguer F, Llor X, Bessa X, Andreu M, Paya A, Castells A, Association G. Colorectal cancer prognosis twenty years later. World Journal Of Gastroenterology 2010, 16: 862-867. PMID: 20143465, PMCID: PMC2825333, DOI: 10.3748/wjg.v16.i7.862.Peer-Reviewed Original ResearchConceptsGroup IIGroup ISurgical mortalityConsecutive CRC patientsGroup II patientsOverall median survivalAdministration of chemotherapyColorectal cancer patientsColorectal cancer survivalPost-surgical mortalityAverage followMedian survivalCRC patientsII patientsTumor stageCancer patientsCancer survivalPatientsChemotherapySurvivalMortalityYearsFollowAdministration
2009
Association of MUTYH and MSH6 germline mutations in colorectal cancer patients
Giráldez MD, Balaguer F, Caldés T, Sanchez-de-Abajo A, Gómez-Fernández N, Ruiz-Ponte C, Muñoz J, Garre P, Gonzalo V, Moreira L, Ocaña T, Clofent J, Carracedo A, Andreu M, Jover R, Llor X, Castells A, Castellví-Bel S, Gastrointestinal Oncology Group of the Spanish Gastroenterological Association. Association of MUTYH and MSH6 germline mutations in colorectal cancer patients. Familial Cancer 2009, 8: 525. PMID: 19685280, DOI: 10.1007/s10689-009-9282-4.Peer-Reviewed Original ResearchConceptsMonoallelic MUTYH mutationsCRC patientsMSH6 mutationsMUTYH mutationsCRC riskGermline mutationsMUTYH mutation carriersColorectal cancer patientsColorectal cancer riskMSH6 germline mutationsCancer patientsHealthy carriersMutation carriersCancer riskPatientsGroup IIGroup IMUTYHRiskMissense mutationsMSH6Repair processNonsense mutationMutationsDNA repair processes
2008
The efficacy of adjuvant chemotherapy with 5-fluorouracil in colorectal cancer depends on the mismatch repair status
Jover R, Zapater P, Castells A, Llor X, Andreu M, Cubiella J, Balaguer F, Sempere L, Xicola RM, Bujanda L, Reñé JM, Clofent J, Bessa X, Morillas JD, Nicolás-Pérez D, Pons E, Payá A, Alenda C, Association G. The efficacy of adjuvant chemotherapy with 5-fluorouracil in colorectal cancer depends on the mismatch repair status. European Journal Of Cancer 2008, 45: 365-373. PMID: 18722765, DOI: 10.1016/j.ejca.2008.07.016.Peer-Reviewed Original ResearchConceptsAdjuvant chemotherapyColorectal cancerMMR statusDisease-free survivalCohort of patientsColorectal cancer patientsSurvival of patientsMismatch repair statusMMR-defective tumorsMMR-deficient tumorsMicrosatellite instability analysisMSH2 immunohistochemistryTNM IIOverall survivalCancer patientsChemotherapyPatientsMMR deficiencyMultivariate analysisRepair statusCohortTumorsCancerIndependent effectsSurvivalComparison of predictive models, clinical criteria and molecular tumour screening for the identification of patients with Lynch syndrome in a population-based cohort of colorectal cancer patients
Balmaña J, Balaguer F, Castellví-Bel S, Steyerberg EW, Andreu M, Llor X, Jover R, Castells A, Syngal S, Association F. Comparison of predictive models, clinical criteria and molecular tumour screening for the identification of patients with Lynch syndrome in a population-based cohort of colorectal cancer patients. Journal Of Medical Genetics 2008, 45: 557. PMID: 18603628, DOI: 10.1136/jmg.2008.059311.Peer-Reviewed Original ResearchMeSH KeywordsAdaptor Proteins, Signal TransducingAdultAgedAged, 80 and overCohort StudiesColorectal NeoplasmsColorectal Neoplasms, Hereditary NonpolyposisDNA Mutational AnalysisFemaleGenetic Carrier ScreeningGenetic TestingHeterozygoteHumansMaleMiddle AgedModels, GeneticMutL Protein Homolog 1MutS Homolog 2 ProteinNuclear ProteinsConceptsMLH1/MSH2 mutation carriersPositive predictive valueMSH2 mutation carriersMutation carriersMMR deficiencyClinical criteriaMismatch repair gene mutationsAmsterdam II criteriaColorectal cancer patientsIdentification of patientsPopulation-based cohortOverall discriminative abilityColorectal cancer cohortRepair gene mutationsGermline testingCRC patientsBethesda guidelinesCancer patientsLynch syndromeCancer cohortPredictive scorePredictive valueSimilar AUCMicrosatellite instabilityObserved prevalenceT2027 Comparison of Predictive Models and Clinical Criteria for the Identification of Patients with Lynch Syndrome in a Population-Based Cohort of Colorectal Cancer (CRC) Patients
Balmaña J, Balaguer F, Castellvi-Bel S, Steyerberg E, Andreu M, Llor X, Jover R, Castells A, Syngal S. T2027 Comparison of Predictive Models and Clinical Criteria for the Identification of Patients with Lynch Syndrome in a Population-Based Cohort of Colorectal Cancer (CRC) Patients. Gastroenterology 2008, 134: a-603. DOI: 10.1016/s0016-5085(08)62817-6.Peer-Reviewed Original ResearchColorectal cancer patientsIdentification of patientsCancer patientsClinical criteriaLynch syndromePatientsSyndromeCohort
2007
Validation and Extension of the PREMM1,2 Model in a Population-Based Cohort of Colorectal Cancer Patients
Balaguer F, Balmaña J, Castellví–Bel S, Steyerberg EW, Andreu M, Llor X, Jover R, Syngal S, Castells A, Association G. Validation and Extension of the PREMM1,2 Model in a Population-Based Cohort of Colorectal Cancer Patients. Gastroenterology 2007, 134: 39-46. PMID: 18061181, PMCID: PMC2542581, DOI: 10.1053/j.gastro.2007.10.042.Peer-Reviewed Original ResearchMeSH KeywordsAdaptor Proteins, Signal TransducingAgedAged, 80 and overCohort StudiesColorectal NeoplasmsDNA Mismatch RepairFemaleGenetic Carrier ScreeningGerm-Line MutationHumansLogistic ModelsMaleMiddle AgedMutL Protein Homolog 1MutL ProteinsNeoplasm ProteinsNuclear ProteinsPredictive Value of TestsReproducibility of ResultsSpainConceptsPositive predictive valueColorectal cancer patientsMMR testingGermline testingCancer patientsMLH1/MSH2 mutation carriersUnselected colorectal cancer patientsMSH2 mutation carriersColorectal cancer populationPopulation-based cohortColorectal cancer casesRecognition of patientsBRAF V600E mutationBRAF V600E mutation analysisMicrosatellite instability analysisCancer populationMismatch repairLynch syndromeCancer casesMutation carriersPredictive valueV600E mutationMMR deficiencyPatientsAbstractTextDetection 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 risk
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
2005
Differential Features of Colorectal Cancers Fulfilling Amsterdam Criteria without Involvement of the Mutator Pathway
Llor X, Pons E, Xicola RM, Castells A, Alenda C, Piñol V, Andreu M, Castellví-Bel S, Payá A, Jover R, Bessa X, Girós A, Roca A, Gassull MA, Association F. Differential Features of Colorectal Cancers Fulfilling Amsterdam Criteria without Involvement of the Mutator Pathway. Clinical Cancer Research 2005, 11: 7304-7310. PMID: 16243801, DOI: 10.1158/1078-0432.ccr-05-0965.Peer-Reviewed Original ResearchMeSH KeywordsAdaptor Proteins, Signal TransducingAgedAged, 80 and overCarrier ProteinsCohort StudiesColorectal NeoplasmsColorectal Neoplasms, Hereditary NonpolyposisDNA Mutational AnalysisDNA-Binding ProteinsFemaleGerm-Line MutationHumansImmunohistochemistryMaleMicrosatellite RepeatsMiddle AgedMutationMutL Protein Homolog 1MutS Homolog 2 ProteinNuclear ProteinsProspective StudiesSpainConceptsHereditary nonpolyposis colorectal cancerHNPCC patientsAmsterdam criteriaColorectal cancerPathway alterationsMicrosatellite instabilityMetachronous adenomatous polypsLeft-sided tumorsMismatch repair gene mutationsAmsterdam II criteriaColorectal cancer patientsNonpolyposis colorectal cancerRepair gene mutationsMismatch repair deficiencyDetailed family historyMMR alterationsEndometrial cancerLymphocytic infiltratePathologic dataCancer patientsFamily historyAdenomatous polypsHNPCC familiesPatientsTumor DNA