2022
Simplified and more sensitive criteria for identifying individuals with pathogenic CDH1 variants
Lerner BA, Xicola RM, Rodriguez NJ, Karam R, Llor X. Simplified and more sensitive criteria for identifying individuals with pathogenic CDH1 variants. Journal Of Medical Genetics 2022, 60: 36-40. PMID: 35078942, PMCID: PMC9661780, DOI: 10.1136/jmedgenet-2021-108169.Peer-Reviewed Original ResearchConceptsInternational Gastric Cancer Linkage ConsortiumHereditary diffuse gastric cancerPercentage of subjectsGastric cancerMutation carriersPathogenic variantsMultigene panel testingPathogenic CDH1 variantsAutosomal dominant syndromeDiffuse gastric cancerClinical criteriaConsecutive casesMedical historyPathology reportsCDH1 variantsPanel testingGenetic testingCancer pathology reportsCancerPathology
2020
Genetic Gastric Cancer Risk Syndromes
Lerner BA, Llor X. Genetic Gastric Cancer Risk Syndromes. Current Treatment Options In Gastroenterology 2020, 18: 604-615. PMID: 33776403, PMCID: PMC7992355, DOI: 10.1007/s11938-020-00312-z.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsHereditary gastric cancer syndromesHereditary diffuse gastric cancerGastric cancer syndromeGastric cancerHamartomatous polyposis syndromesPolyposis syndromeLynch syndromeRisk syndromeCancer syndromesPathogenic variantsMultigene panel testingAdenomatous polyposis syndromeDiffuse gastric cancerCumulative incidenceProximal polyposisRecent FindingsPatientsCancer deathClinical criteriaGastric adenocarcinomaLeading causeProphylactic gastrectomyMutation statusPanel testingSyndromeCancer penetrance
2019
Clinical features and cancer risk in families with pathogenic CDH1 variants irrespective of clinical criteria
Xicola RM, Li S, Rodriguez N, Reinecke P, Karam R, Speare V, Black MH, LaDuca H, Llor X. Clinical features and cancer risk in families with pathogenic CDH1 variants irrespective of clinical criteria. Journal Of Medical Genetics 2019, 56: 838. PMID: 31296550, DOI: 10.1136/jmedgenet-2019-105991.Peer-Reviewed Original ResearchConceptsHereditary diffuse gastric cancerPathogenic variant carriersBreast cancerGastric cancerClinical criteriaCancer riskVariant carriersMultigene panel testingCancer genetics programCancer phenotypePathogenic CDH1 variantsGastric cancer riskBreast cancer familiesDiffuse gastric cancerCancer risk estimationGenotype-phenotype correlationClinical featuresCumulative cancer riskHDGC criteriaCumulative riskAge 80CDH1 variantsPanel testingClinical phenotypePathogenic variants
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
2008
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
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 Research
2007
Identification 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