2023
33 THE IMPLEMENTATION OF AN EMR-BASED AUTOMATED SYSTEM FOR IDENTIFICATION OF PATIENTS SUSPICIOUS FOR LYNCH SYNDROME HAS A DISPROPORTIONALLY POSITIVE IMPACT IN THE IDENTIFICATION OF DISADVANTAGED PATIENTS
Soleymanjahi S, Singh V, Liu J, Brown Q, Brierley K, Healy C, Xicola R, Kashyap N, Llor X. 33 THE IMPLEMENTATION OF AN EMR-BASED AUTOMATED SYSTEM FOR IDENTIFICATION OF PATIENTS SUSPICIOUS FOR LYNCH SYNDROME HAS A DISPROPORTIONALLY POSITIVE IMPACT IN THE IDENTIFICATION OF DISADVANTAGED PATIENTS. Gastroenterology 2023, 164: s-11. DOI: 10.1016/s0016-5085(23)00980-0.Peer-Reviewed Original Research
2021
Exome sequencing of early-onset patients supports genetic heterogeneity in colorectal cancer
Fernández-Rozadilla C, Álvarez-Barona M, Quintana I, López-Novo A, Amigo J, Cameselle-Teijeiro J, Roman E, Gonzalez D, Llor X, Bujanda L, Bessa X, Jover R, Balaguer F, Castells A, Castellví-Bel S, Capellá G, Carracedo A, Valle L, Ruiz-Ponte C. Exome sequencing of early-onset patients supports genetic heterogeneity in colorectal cancer. Scientific Reports 2021, 11: 11135. PMID: 34045552, PMCID: PMC8159954, DOI: 10.1038/s41598-021-90590-z.Peer-Reviewed Original ResearchMeSH KeywordsAdultColorectal NeoplasmsDNA HelicasesDNA Repair EnzymesDNA-Binding ProteinsExomeExome SequencingFemaleGene Expression Regulation, NeoplasticGenetic HeterogeneityGenetic Predisposition to DiseaseHumansMaleMethyltransferasesMiddle AgedPoly-ADP-Ribose Binding ProteinsProtein Tyrosine Phosphatase, Non-Receptor Type 13ConceptsEarly-onset CRC patientsColorectal cancerCRC patientsEarly-onset patientsGenetic variantsPotential risk allelesCRC onsetYoungest caseCRC developmentIndependent patientsPatientsTruncating variantsRisk allelesExome sequencingNovel genetic variantsRobust studiesTDG geneDisease developmentCandidate variantsCancerMolecular heterogeneityDiseaseComplex diseasesGenetic heterogeneityHigh-impact variants
2020
NCCN Guidelines Insights: Colorectal Cancer Screening, Version 2.2020.
Provenzale D, Ness RM, Llor X, Weiss JM, Abbadessa B, Cooper G, Early DS, Friedman M, Giardiello FM, Glaser K, Gurudu S, Halverson AL, Issaka R, Jain R, Kanth P, Kidambi T, Lazenby AJ, Maguire L, Markowitz AJ, May FP, Mayer RJ, Mehta S, Patel S, Peter S, Stanich P, Terdiman J, Keller J, Dwyer MA, Ogba N. NCCN Guidelines Insights: Colorectal Cancer Screening, Version 2.2020. Journal Of The National Comprehensive Cancer Network 2020, 18: 1312-1320. PMID: 33022639, PMCID: PMC8311627, DOI: 10.6004/jnccn.2020.0048.Peer-Reviewed Original ResearchConceptsColorectal cancer screeningNCCN guidelinesCancer screeningAverage-risk individualsNCCN Guidelines InsightsLow-risk adenomasCRC preventionSporadic CRCScreening scheduleRisk individualsGenetic syndromesPanel recommendationsPatientsRecent updatesCRCScreeningGuidelinesAdenomasSyndromePhysiciansPreventionAGA White Paper: Roadmap for the Future of Colorectal Cancer Screening in the United States
Melson JE, Imperiale TF, Itzkowitz SH, Llor X, Kochman ML, Grady WM, Schoen RE, Burke CA, Shaukat A, Rabeneck L, Ladabaum U, Bresalier R, Spiegel B, Yee J, Wang T, Lieberman D, Komanduri S, Muthusamy VR, Dey N. AGA White Paper: Roadmap for the Future of Colorectal Cancer Screening in the United States. Clinical Gastroenterology And Hepatology 2020, 18: 2667-2678.e2. PMID: 32634626, DOI: 10.1016/j.cgh.2020.06.053.Peer-Reviewed Original ResearchConceptsColorectal cancer screeningCancer screeningBetter risk-stratify patientsMultiple screening modalitiesRisk-stratify patientsNoninvasive screening testAmerican Gastroenterological Association's CenterPersonal risk assessmentCRC morbidityCRC screeningCRC outcomesScreening modalityConsensus conferenceScreening testAssociation centerOutcomesScreeningTesting paradigmSurveillanceMorbidityPatientsRisk assessmentMortalityUptake
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
2015
Efficacy of Adjuvant 5-Fluorouracil Therapy for Patients with EMAST-Positive Stage II/III Colorectal Cancer
Hamaya Y, Guarinos C, Tseng-Rogenski SS, Iwaizumi M, Das R, Jover R, Castells A, Llor X, Andreu M, Carethers JM. Efficacy of Adjuvant 5-Fluorouracil Therapy for Patients with EMAST-Positive Stage II/III Colorectal Cancer. PLOS ONE 2015, 10: e0127591. PMID: 25996601, PMCID: PMC4440728, DOI: 10.1371/journal.pone.0127591.Peer-Reviewed Original ResearchConceptsColorectal cancerStage II/III CRC patientsStage II/III colorectal cancerKaplan-Meier survival curvesSelected Tetranucleotide RepeatsSporadic colorectal cancerElevated microsatellite alterationsEMAST statusEfficacy of adjuvantsCRC patientsImproved survivalPatient outcomesSomatic dysfunctionPatientsMicrosatellite alterationsSurvival curvesCancerChemotherapySurvival dataSubsequent cytotoxicityEMASTSurvivalMMR functionSame extentCytotoxicityPrevalence 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
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 cancersMultiple 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 profilesInflammationRisk of Cancer in Cases of Suspected Lynch Syndrome Without Germline Mutation
Rodríguez–Soler M, Pérez–Carbonell L, Guarinos C, Zapater P, Castillejo A, Barberá VM, Juárez M, Bessa X, Xicola RM, Clofent J, Bujanda L, Balaguer F, Reñé J, de–Castro L, Marín–Gabriel J, Lanas A, Cubiella J, Nicolás–Pérez D, Brea–Fernández A, Castellví–Bel S, Alenda C, Ruiz–Ponte C, Carracedo A, Castells A, Andreu M, Llor X, Soto JL, Payá A, Jover R. Risk of Cancer in Cases of Suspected Lynch Syndrome Without Germline Mutation. Gastroenterology 2013, 144: 926-932.e1. PMID: 23354017, DOI: 10.1053/j.gastro.2013.01.044.Peer-Reviewed Original ResearchMeSH KeywordsAdaptor Proteins, Signal TransducingAdultAgedAged, 80 and overColorectal Neoplasms, Hereditary NonpolyposisDNA Mismatch RepairDNA RepairDNA, NeoplasmFemaleGerm-Line MutationHumansImmunohistochemistryIncidenceMaleMicrosatellite InstabilityMiddle AgedMutL Protein Homolog 1Nuclear ProteinsPopulation SurveillanceRisk FactorsSpainConceptsLynch-like syndromeSex-adjusted standardized incidence ratiosFamilies of patientsRisk of cancerIncidence of CRCLynch syndromePathogenic germline mutationsMicrosatellite instabilityGermline mutationsSporadic CRCStandardized incidence ratiosLoss of PMS2Population-based cohortMLH1 promoter hypermethylationLoss of MLH1Loss of MSH2Clinical characteristicsConsecutive patientsIncidence ratiosMSH6 expressionImmunohistochemical analysisPatientsMLH1 promoterSyndromeSurveillance strategies
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 basisCancerSusceptibility genetic variants associated with early-onset colorectal cancer
Giráldez MD, López-Dóriga A, Bujanda L, Abulí A, Bessa X, Fernández-Rozadilla C, Muñoz J, Cuatrecasas M, Jover R, Xicola RM, Llor X, Piqué JM, Carracedo A, Ruiz-Ponte C, Cosme A, Enríquez-Navascués JM, Moreno V, Andreu M, Castells A, Balaguer F, Castellví-Bel S, Association T. Susceptibility genetic variants associated with early-onset colorectal cancer. Carcinogenesis 2012, 33: 613-619. PMID: 22235025, DOI: 10.1093/carcin/bgs009.Peer-Reviewed Original ResearchConceptsEarly-onset colorectal cancerColorectal cancerFamily historyCRC susceptibility variantsRisk allelesCRC family historyLynch syndrome spectrumHigh-risk groupEarly-onset casesRisk allele carriersCRC burdenGenotype-phenotype correlationCRC groupEntire cohortCommon cancerPathological characteristicsAllele carriersHereditary predispositionSusceptibility variantsGenetic susceptibility lociSurveillance strategiesHereditary formsSyndrome spectrumPatientsCancer
2011
Comparison between universal molecular screening for Lynch syndrome and revised Bethesda guidelines in a large population-based cohort of patients with colorectal cancer
Pérez-Carbonell L, Ruiz-Ponte C, Guarinos C, Alenda C, Payá A, Brea A, Egoavil CM, Castillejo A, Barberá VM, Bessa X, Xicola RM, Rodríguez-Soler M, Sánchez-Fortún C, Acame N, Castellví-Bel S, Piñol V, Balaguer F, Bujanda L, De-Castro ML, Llor X, Andreu M, Carracedo A, Soto JL, Castells A, Jover R. Comparison between universal molecular screening for Lynch syndrome and revised Bethesda guidelines in a large population-based cohort of patients with colorectal cancer. Gut 2011, 61: 865. PMID: 21868491, DOI: 10.1136/gutjnl-2011-300041.Peer-Reviewed Original ResearchMeSH KeywordsAdaptor Proteins, Signal TransducingAdultAgedAged, 80 and overColorectal NeoplasmsColorectal Neoplasms, Hereditary NonpolyposisDNA MethylationDNA Mismatch RepairFemaleGenetic Carrier ScreeningGenetic TestingGerm-Line MutationHumansImmunohistochemistryMaleMicrosatellite InstabilityMiddle AgedMutL Protein Homolog 1MutS Homolog 2 ProteinNuclear ProteinsPractice Guidelines as TopicConceptsColorectal cancerLynch syndromeBethesda criteriaGenetic testingBethesda guidelinesMSH6 expressionLarge population-based cohortSelection of patientsPopulation-based cohortMMR proteinsMMR gene mutationsMMR protein expressionLoss of MLH1Microsatellite instability analysisGermline MLH1Routine molecular screeningLoss of expressionMutation carriersMSH2 stainingPatientsMSH2 mutationsLarge seriesMSI tumorsPMS2 expressionTumor tissueValidation 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 mutationsDifferential Features of Colorectal Cancer (CRC) in Patients With Probable Non-Sporadic Mismatch Repair Deficiency Without Germline Mutation
Soler M, Pérez-Carbonell L, Guarinos C, Ruiz-Ponte C, Brea A, Castillejo A, Barberá V, Sanchez-Fortun C, Sempere-Robles L, Bujanda L, Clofent J, Llor X, Andreu M, Castells A, Carracedo A, Soto J, Payá A, Alenda C, Jover R. Differential Features of Colorectal Cancer (CRC) in Patients With Probable Non-Sporadic Mismatch Repair Deficiency Without Germline Mutation. Gastroenterology 2011, 140: s-190-s-191. DOI: 10.1016/s0016-5085(11)60767-1.Peer-Reviewed Original Research
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 AssociatedMethylation 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 expression