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
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 tissue
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 expression
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
A Prospective, Multicenter, Population-Based Study of BRAF Mutational Analysis for Lynch Syndrome Screening
Bessa X, Ballesté B, Andreu M, Castells A, Bellosillo B, Balaguer F, Castellví–bel S, Paya A, Jover R, Alenda C, Titó L, Martinez–Villacampa M, Vilella A, Xicola RM, Pons E, Llor X, Association G. A Prospective, Multicenter, Population-Based Study of BRAF Mutational Analysis for Lynch Syndrome Screening. Clinical Gastroenterology And Hepatology 2007, 6: 206-214. PMID: 18096441, DOI: 10.1016/j.cgh.2007.10.011.Peer-Reviewed Original ResearchMeSH KeywordsAdaptor Proteins, Signal TransducingAgedAged, 80 and overAmino Acid SubstitutionColorectal Neoplasms, Hereditary NonpolyposisFemaleGenetic Predisposition to DiseaseGenetic TestingGerm-Line MutationHumansMaleMiddle AgedMutL Protein Homolog 1MutL ProteinsNeoplasm ProteinsNuclear ProteinsPolymorphism, GeneticProspective StudiesProto-Oncogene Proteins B-rafConceptsSporadic colorectal cancerColorectal cancerCRC patientsMMR deficiencyBRAF mutationsV600E mutationGenetic testingGermline mutationsHereditary nonpolyposis colorectal cancerLynch syndrome screeningGermline genetic testingMLH1 germline mutationsPopulation-based studyGene mutation carriersMMR genes MLH1Nonpolyposis colorectal cancerBRAF V600E mutationBRAF mutational analysisMLH1 promoter methylationBRAF mutation analysisBRAF V600E mutation analysisMutation analysisBRAF analysisLynch syndromeFamily history
2006
Clinical Performance of Original and Revised Bethesda Guidelines for the Identification of MSH2/MLH1 Gene Carriers in Patients with Newly Diagnosed Colorectal Cancer: Proposal of a New and Simpler Set of Recommendations
Rodríguez-Moranta F, Castells A, Andreu M, Piñol V, Castellví-Bel S, Alenda C, Llor X, Xicola RM, Jover R, Payá A, Bessa X, Balaguer F, Cubiella J, Argüello L, Morillas JD, Bujanda L. Clinical Performance of Original and Revised Bethesda Guidelines for the Identification of MSH2/MLH1 Gene Carriers in Patients with Newly Diagnosed Colorectal Cancer: Proposal of a New and Simpler Set of Recommendations. The American Journal Of Gastroenterology 2006, 101: ajg2006204. PMID: 16696788, DOI: 10.1111/j.1572-0241.2006.00522.x.Peer-Reviewed Original ResearchMeSH KeywordsAdaptor Proteins, Signal TransducingAgedCarrier ProteinsColorectal NeoplasmsEpidemiologic StudiesHeterozygoteHumansMiddle AgedMutationMutL Protein Homolog 1MutS Homolog 2 ProteinNuclear ProteinsPractice Guidelines as TopicPredictive Value of TestsProspective StudiesSensitivity and SpecificitySpainConceptsBethesda guidelinesColorectal cancerNegative predictive valuePredictive valueClinical performanceMLH1 germline mutationsGene mutation carriersLogistic regression analysisNational Cancer InstitutePositive predictive valueCancer genetic testingMutation carriersIdentification of individualsEpidemiology SurveysCancer InstitutePatientsGenetic testingGermline mutationsEPICOLON studyCancerOriginal guidelinesGene carriersRegression analysisGuidelinesTerms of sensitivity
2005
Accuracy of Revised Bethesda Guidelines, Microsatellite Instability, and Immunohistochemistry for the Identification of Patients With Hereditary Nonpolyposis Colorectal Cancer
Piñol V, Castells A, Andreu M, Castellví-Bel S, Alenda C, Llor X, Xicola RM, Rodríguez-Moranta F, Payá A, Jover R, Bessa X, Association F. Accuracy of Revised Bethesda Guidelines, Microsatellite Instability, and Immunohistochemistry for the Identification of Patients With Hereditary Nonpolyposis Colorectal Cancer. JAMA 2005, 293: 1986-1994. PMID: 15855432, DOI: 10.1001/jama.293.16.1986.Peer-Reviewed Original ResearchMeSH KeywordsAdaptor Proteins, Signal TransducingAgedCarrier ProteinsChromosomal InstabilityColorectal Neoplasms, Hereditary NonpolyposisCost-Benefit AnalysisDNA Mutational AnalysisDNA-Binding ProteinsFemaleGenetic Carrier ScreeningGenetic TestingGerm-Line MutationGuidelines as TopicHeterozygoteHumansImmunohistochemistryMaleMicrosatellite RepeatsMiddle AgedMutL Protein Homolog 1MutS Homolog 2 ProteinNeoplasm ProteinsNuclear ProteinsPredictive Value of TestsProspective StudiesProto-Oncogene ProteinsSensitivity and SpecificitySpainConceptsMicrosatellite instability testingBethesda guidelinesMLH1 germline mutationsInstability testingMicrosatellite instabilityGermline testingColorectal cancerGermline mutationsHereditary nonpolyposis colorectal cancerRevised Bethesda GuidelinesProtein expressionIdentification of patientsLogistic regression analysisNonpolyposis colorectal cancerMismatch repair deficiencyNational Cancer InstituteCancer genetic testingTumor characteristicsClinical parametersFamily historyNationwide studyIdentification of individualsCancer InstitutePatientsGenetic testing