2015
Mutation Spectrum and Risk of Colorectal Cancer in African American Families with Lynch Syndrome
Santa Cruz Guindalini R, Win AK, Gulden C, Lindor NM, Newcomb PA, Haile RW, Raymond V, Stoffel E, Hall M, Llor X, Ukaegbu CI, Solomon I, Weitzel J, Kalady M, Blanco A, Terdiman J, Shuttlesworth GA, Lynch PM, Hampel H, Lynch HT, Jenkins MA, Olopade OI, Kupfer SS. Mutation Spectrum and Risk of Colorectal Cancer in African American Families with Lynch Syndrome. Gastroenterology 2015, 149: 1446-1453. PMID: 26248088, PMCID: PMC4648287, DOI: 10.1053/j.gastro.2015.07.052.Peer-Reviewed Original ResearchMeSH KeywordsAdaptor Proteins, Signal TransducingAdenosine TriphosphatasesAdultAge FactorsAgedAged, 80 and overBlack or African AmericanColorectal NeoplasmsColorectal Neoplasms, Hereditary NonpolyposisDNA Mismatch RepairDNA Repair EnzymesDNA-Binding ProteinsFamilyFemaleHumansIncidenceMaleMiddle AgedMismatch Repair Endonuclease PMS2MutationMutL Protein Homolog 1MutS Homolog 2 ProteinNuclear ProteinsRetrospective StudiesRisk FactorsSex FactorsConceptsColorectal cancerLynch syndromeCumulative riskRisk of CRCUS referral centersMMR gene mutationsMutation spectrumNongenetic risk factorsYears of ageMismatch repair genesMMR gene productsMutation-carrying familiesReferral centerRetrospective studyCRC riskRisk factorsFamily historyCancer riskHigh incidenceCRC conditionsSyndromeAbstractTextMMR genesAscertainment criteriaCancerPrevalence 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
Prevalence of somatic mutl homolog 1 promoter hypermethylation in Lynch syndrome colorectal cancer
Moreira L, Muñoz J, Cuatrecasas M, Quintanilla I, Leoz ML, Carballal S, Ocaña T, López‐Cerón M, Pellise M, Castellví‐Bel S, Jover R, Andreu M, Carracedo A, Xicola RM, Llor X, Boland CR, Goel A, Castells A, Balaguer F. Prevalence of somatic mutl homolog 1 promoter hypermethylation in Lynch syndrome colorectal cancer. Cancer 2014, 121: 1395-1404. PMID: 25557234, PMCID: PMC10508888, DOI: 10.1002/cncr.29190.Peer-Reviewed Original ResearchThe MLH1 c.1852_1853delinsGC (p.K618A) Variant in Colorectal Cancer: Genetic Association Study in 18,723 Individuals
Abulí A, Bujanda L, Muñoz J, Buch S, Schafmayer C, Valeria Maiorana M, Veneroni S, van Wezel T, Liu T, Westers H, Esteban-Jurado C, Ocaña T, Piqué JM, Andreu M, Jover R, Carracedo A, Xicola RM, Llor X, Castells A, , Dunlop M, Hofstra R, Lindblom A, Wijnen J, Peterlongo P, Hampe J, Ruiz-Ponte C, Castellví-Bel S. The MLH1 c.1852_1853delinsGC (p.K618A) Variant in Colorectal Cancer: Genetic Association Study in 18,723 Individuals. PLOS ONE 2014, 9: e95022. PMID: 24743384, PMCID: PMC3990597, DOI: 10.1371/journal.pone.0095022.Peer-Reviewed Original ResearchMeSH KeywordsAdaptor Proteins, Signal TransducingAdenosine TriphosphatasesAmino Acid SubstitutionCohort StudiesColorectal NeoplasmsDNA Repair EnzymesDNA-Binding ProteinsFemaleGenetic Association StudiesGerm-Line MutationHumansINDEL MutationMaleMismatch Repair Endonuclease PMS2Mutation, MissenseMutL Protein Homolog 1MutS Homolog 2 ProteinNuclear ProteinsConceptsColorectal cancerPathological characteristicsLynch syndromeCase-control studyLynch syndrome tumorsFamilial adenomatous polyposisDefective DNA mismatch repairGenotype-phenotype correlationFrequent neoplasmLow-penetrance variantsFamily historyLarge cohortImportant causeAdenomatous polyposisTotal burdenGenetic susceptibilityGermline mutationsUncertain significancePathogenic consequencesSyndromeMLH1 geneCommon formDNA mismatch repairMendelian syndromesRisk variants
2013
Risk 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
A High Degree of LINE-1 Hypomethylation Is a Unique Feature of Early-Onset Colorectal Cancer
Antelo M, Balaguer F, Shia J, Shen Y, Hur K, Moreira L, Cuatrecasas M, Bujanda L, Giraldez MD, Takahashi M, Cabanne A, Barugel ME, Arnold M, Roca EL, Andreu M, Castellvi-Bel S, Llor X, Jover R, Castells A, Boland CR, Goel A. A High Degree of LINE-1 Hypomethylation Is a Unique Feature of Early-Onset Colorectal Cancer. PLOS ONE 2012, 7: e45357. PMID: 23049789, PMCID: PMC3458035, DOI: 10.1371/journal.pone.0045357.Peer-Reviewed Original ResearchMeSH KeywordsAdaptor Proteins, Signal TransducingAdenomaAdultAge of OnsetArgentinaCase-Control StudiesColorectal NeoplasmsColorectal Neoplasms, Hereditary NonpolyposisDNA GlycosylasesDNA MethylationDNA-Binding ProteinsFemaleGene ExpressionGerm-Line MutationHumansLong Interspersed Nucleotide ElementsMaleMicrosatellite InstabilityMiddle AgedMutL Protein Homolog 1MutS Homolog 3 ProteinNuclear ProteinsProto-Oncogene Proteins B-rafSpainSurvival AnalysisUnited StatesConceptsEarly-onset colorectal cancerColorectal cancerLINE-1 methylationLINE-1 hypomethylationLynch syndrome colorectal cancersMismatch repair protein expressionSomatic BRAF V600E mutationNormal colonic mucosa samplesBetter overall survivalCancer-related mortalityMean LINE-1 methylation levelGermline MUTYH mutationsSporadic colorectal cancerRepair protein expressionColonic mucosa samplesMicrosatellite instability statusDistinct molecular subtypesBRAF V600E mutationLINE-1 methylation levelsLower LINE-1 methylationOverall survivalCRC tissuesMethylation statusPoor prognosisLynch syndrome
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 tissueA two-phase case–control study for colorectal cancer genetic susceptibility: candidate genes from chromosomal regions 9q22 and 3q22
Abulí A, Fernández-Rozadilla C, Giráldez MD, Muñoz J, Gonzalo V, Bessa X, Bujanda L, Reñé JM, Lanas A, García AM, Saló J, Argüello L, Vilella À, Carreño R, Jover R, Xicola RM, Llor X, Carvajal-Carmona L, Tomlinson IP, Kerr DJ, Houlston RS, Piqué JM, Carracedo A, Castells A, Andreu M, Ruiz-Ponte C, Castellví-Bel S, for the Gastrointestinal Oncology Group of the Spanish Gastroenterological Association. A two-phase case–control study for colorectal cancer genetic susceptibility: candidate genes from chromosomal regions 9q22 and 3q22. British Journal Of Cancer 2011, 105: 870-875. PMID: 21811255, PMCID: PMC3171011, DOI: 10.1038/bjc.2011.296.Peer-Reviewed Original ResearchMeSH KeywordsAgedAntigens, CDCarrier ProteinsCase-Control StudiesChromosomes, Human, Pair 3Chromosomes, Human, Pair 9Colorectal NeoplasmsDNA-Binding ProteinsGenetic Association StudiesGenetic Predisposition to DiseaseGPI-Linked ProteinsHumansMaleNuclear ProteinsPolymorphism, Single NucleotideSemaphorinsConceptsCRC riskCRC casesColorectal cancerSingle nucleotide polymorphismsCancer-related deathCase-control studyLarge CRC cohortsGenetic variantsLow-penetrance genetic variantsCRC cohortCRC susceptibilityCRC familiesSecond causeGenetic susceptibilityGenetic riskGenetic linkage studiesAdditional associationsCandidate genesRiskPhase 2Plausible candidate genesFurther validationPhase 1Two-phase case-control studyLinkage studiesValidation 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 mutationsCancer Risk Assessment in Lynch Syndrome: Does the Gene Matter?
Xicola RM, Llor X. Cancer Risk Assessment in Lynch Syndrome: Does the Gene Matter? JAMA 2011, 305: 2351-2352. PMID: 21642691, DOI: 10.1001/jama.2011.771.Commentaries, Editorials and LettersEvidence for classification of c.1852_1853AA>GC in MLH1 as a neutral variant for Lynch syndrome
Castillejo A, Guarinos C, Martinez-Canto A, Barbera VM, Egoavil C, Castillejo MI, Perez-Carbonell L, Sanchez-Heras AB, Segura A, Ochoa E, Lazaro R, Ruiz-Ponte C, Bujanda L, Andreu M, Castells A, Carracedo A, Llor X, Clofent J, Alenda C, Paya A, Jover R, Soto JL. Evidence for classification of c.1852_1853AA>GC in MLH1 as a neutral variant for Lynch syndrome. BMC Medical Genomics 2011, 12: 12. PMID: 21247423, PMCID: PMC3034663, DOI: 10.1186/1471-2350-12-12.Peer-Reviewed Original ResearchConceptsMicrosatellite instabilityLS familiesAmsterdam II criteriaPathogenic mutationsCase-case studyEarly-onset cancersCase-control comparisonBackgroundLynch syndromeCRC probandsHereditary CRCTumor DNA samplesCRC patientsSporadic CRCLS patientsClinical managementLynch syndromeClinical significanceOnset cancerCancer syndromesPositive casesMononucleotide markersControl populationPathogenic variantsSignificant associationMSH6 gene
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 expressionAberrant DNA Methylation in Hereditary Nonpolyposis Colorectal Cancer Without Mismatch Repair Deficiency
Goel A, Xicola RM, Nguyen T, Doyle BJ, Sohn VR, Bandipalliam P, Rozek LS, Reyes J, Cordero C, Balaguer F, Castells A, Jover R, Andreu M, Syngal S, Boland CR, Llor X. Aberrant DNA Methylation in Hereditary Nonpolyposis Colorectal Cancer Without Mismatch Repair Deficiency. Gastroenterology 2010, 138: 1854-1862.e1. PMID: 20102720, PMCID: PMC2859993, DOI: 10.1053/j.gastro.2010.01.035.Peer-Reviewed Original ResearchMeSH KeywordsAdaptor Proteins, Signal TransducingAdultAgedAged, 80 and overBase SequenceBasic Helix-Loop-Helix Transcription FactorsColorectal Neoplasms, Hereditary NonpolyposisCore Binding Factor Alpha 3 SubunitDNA MethylationDNA Mismatch RepairEpigenesis, GeneticFemaleGene Expression Regulation, NeoplasticGenetic Predisposition to DiseaseGenomic InstabilityHumansLong Interspersed Nucleotide ElementsMaleMicrosatellite RepeatsMiddle AgedMolecular Sequence DataMutationMutL Protein Homolog 1Nerve Tissue ProteinsNuclear ProteinsPedigreePhenotypeProto-Oncogene ProteinsProto-Oncogene Proteins B-rafProto-Oncogene Proteins p21(ras)Ras ProteinsSpainSuppressor of Cytokine Signaling 1 ProteinSuppressor of Cytokine Signaling ProteinsUnited StatesConceptsHereditary nonpolyposis colorectal cancerNonpolyposis colorectal cancerHNPCC tumorsMismatch repair deficiencyColorectal cancerMicrosatellite instabilityGermline mismatch repair (MMR) gene mutationsLynch syndrome cancersMismatch repair gene mutationsRepair deficiencyBest diagnostic approachBRAF mutation statusRepair gene mutationsSporadic microsatellite instabilityV600E BRAF mutationLINE-1 methylationSyndrome cancersAmsterdam criteriaLynch syndromeKRAS mutationsTreatment responseBRAF mutationsHigh indexTumor behaviorCarcinogenic pathways
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
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 prevalence
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 historyValidation 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 riskPerformance of Different Microsatellite Marker Panels for Detection of Mismatch Repair–Deficient Colorectal Tumors
Xicola RM, Llor X, Pons E, Castells A, Alenda C, Piñol V, Andreu M, Castellví-Bel S, Payá A, Jover R, Bessa X, Girós A, Duque JM, Nicolás-Pérez D, Garcia AM, Rigau J, Gassull MA. Performance of Different Microsatellite Marker Panels for Detection of Mismatch Repair–Deficient Colorectal Tumors. Journal Of The National Cancer Institute 2007, 99: 244-252. PMID: 17284719, DOI: 10.1093/jnci/djk033.Peer-Reviewed Original ResearchMeSH KeywordsAdaptor Proteins, Signal TransducingAdenosine TriphosphatasesAgedBiomarkers, TumorCarrier ProteinsCohort StudiesColorectal NeoplasmsDNA Mismatch RepairDNA Repair EnzymesDNA-Binding ProteinsFemaleGene Expression Regulation, NeoplasticHumansImmunohistochemistryMaleMicrosatellite InstabilityMicrosatellite RepeatsMismatch Repair Endonuclease PMS2MutL Protein Homolog 1MutS Homolog 2 ProteinNeoplasm ProteinsNuclear ProteinsPolymerase Chain ReactionPredictive Value of TestsSensitivity and SpecificitySpain
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