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 ResearchMeSH KeywordsAdenocarcinomaAntigens, CDCadherinsGenetic Predisposition to DiseaseGenetic TestingGerm-Line MutationHumansPedigreeStomach NeoplasmsConceptsInternational 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
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
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 ResearchMeSH KeywordsAdultAgedAged, 80 and overAntigens, CDBreast NeoplasmsCadherinsFemaleGenetic Predisposition to DiseaseGenetic VariationGerm-Line MutationHumansMaleMiddle AgedPedigreePenetranceRisk FactorsStomach NeoplasmsConceptsHereditary 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
Genetic testing for hereditary prostate cancer: Current status and limitations
Zhen JT, Syed J, Nguyen KA, Leapman MS, Agarwal N, Brierley K, Llor X, Hofstatter E, Shuch B. Genetic testing for hereditary prostate cancer: Current status and limitations. Cancer 2018, 124: 3105-3117. PMID: 29669169, DOI: 10.1002/cncr.31316.BooksMeSH KeywordsBRCA1 ProteinBRCA2 ProteinGenetic Predisposition to DiseaseGenetic TestingGerm-Line MutationHumansMaleNeoplasm ProteinsPolymorphism, Single NucleotideProstatic NeoplasmsConceptsCheckpoint kinase 2Protein C-terminal helicase 1MutL homolog 1Single gene alterationsBreast cancer gene 1Next-generation sequencingHelicase 1Multiple genesAtaxia telangiectasiaKinase 2Gene 1Single gene polymorphismsHomolog 1Strong hereditary componentPostmeiotic segregationHomeobox B13NibrinBRCA1/BRCA2Hereditary componentApproval of olaparib
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
Enrichment of inflammatory bowel disease and colorectal cancer risk variants in colon expression quantitative trait loci
Hulur I, Gamazon ER, Skol AD, Xicola RM, Llor X, Onel K, Ellis NA, Kupfer SS. Enrichment of inflammatory bowel disease and colorectal cancer risk variants in colon expression quantitative trait loci. BMC Genomics 2015, 16: 138. PMID: 25766683, PMCID: PMC4351699, DOI: 10.1186/s12864-015-1292-z.Peer-Reviewed Original ResearchConceptsInflammatory bowel diseaseColorectal cancerBowel diseaseSingle nucleotide polymorphismsBody mass indexType 2 diabetesHealthy African AmericansColorectal cancer risk variantsMass indexTarget genesColonic diseaseColonic samplesDiseaseNovel target geneBackgroundGenome-wide association studiesHuman colonDifferent ethnic groupsRisk variantsAfrican AmericansColonFalse discovery rateGenetic variantsNucleotide polymorphismsBiological differencesFunctional role
2014
Genetic variation in vitamin D-related genes and risk of colorectal cancer in African Americans
Pibiri F, Kittles RA, Sandler RS, Keku TO, Kupfer SS, Xicola RM, Llor X, Ellis NA. Genetic variation in vitamin D-related genes and risk of colorectal cancer in African Americans. Cancer Causes & Control 2014, 25: 561-570. PMID: 24562971, PMCID: PMC3978221, DOI: 10.1007/s10552-014-0361-y.Peer-Reviewed Original Research
2013
A genome-wide association study on copy-number variation identifies a 11q11 loss as a candidate susceptibility variant for colorectal cancer
Fernandez-Rozadilla C, Cazier JB, Tomlinson I, Brea-Fernández A, Lamas MJ, Baiget M, López-Fernández LA, Clofent J, Bujanda L, Gonzalez D, de Castro L, The EPICOLON Consortium, Hemminki K, Bessa X, Andreu M, Jover R, Xicola R, Llor X, Moreno V, Castells A, Castellví-Bel S, Carracedo A, Ruiz-Ponte C. A genome-wide association study on copy-number variation identifies a 11q11 loss as a candidate susceptibility variant for colorectal cancer. Human Genetics 2013, 133: 525-534. PMID: 24218287, DOI: 10.1007/s00439-013-1390-4.Peer-Reviewed Original ResearchMeSH KeywordsChromosomes, Human, Pair 11Colorectal NeoplasmsGene DosageGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansPolymorphism, Single NucleotideConceptsGenome-wide association studiesCommon copy number variantsAssociation studiesGenetic variantsWide association studyCommon structural variationCandidate susceptibility variantsCopy number variationsCopy number variantsSNP variationGenomic sourcesObserved heritabilityCopy number statusSusceptibility variantsComplex diseasesQuantitative PCRStructural variationsEnvironmental factorsGenetic fractionsCRC developmentVariantsCRC susceptibilityLociHeritabilitySNPsGenetic susceptibility variants associated with colorectal cancer prognosis
Abulí A, Lozano JJ, Rodríguez-Soler M, Jover R, Bessa X, Muñoz J, Esteban-Jurado C, Fernández-Rozadilla C, Carracedo A, Ruiz-Ponte C, Cubiella J, Balaguer F, Bujanda L, Reñé JM, Clofent J, Morillas JD, Nicolás-Pérez D, Xicola RM, Llor X, Piqué JM, Andreu M, Castells A, Castellví-Bel S. Genetic susceptibility variants associated with colorectal cancer prognosis. Carcinogenesis 2013, 34: 2286-2291. PMID: 23712746, DOI: 10.1093/carcin/bgt179.Peer-Reviewed Original ResearchConceptsOutcome overall survivalColorectal cancerGenetic susceptibility variantsG alleleColorectal cancer prognosisDisease-free survivalRecurrence-free intervalSuch prognostic factorsBetter clinical outcomesCancer-related deathBetter OSOverall survivalCRC patientsPrognostic factorsClinical outcomesPatient survivalShorter survivalCRC cohortPredictive biomarkersIntensive treatmentLifestyle habitsHigh riskSusceptibility variantsCancer prognosisSomatic genetic factors
2012
BMP2 / BMP4 colorectal cancer susceptibility loci in northern and southern European populations
Fernandez-Rozadilla C, Palles C, Carvajal-Carmona L, Peterlongo P, Nici C, Veneroni S, Pinheiro M, Teixeira MR, Moreno V, Lamas MJ, Baiget M, Lopez-Fernandez L, Gonzalez D, Brea-Fernandez A, Clofent J, Bujanda L, Bessa X, Andreu M, Xicola R, Llor X, Jover R, Consortium T, Castells A, Castellvi-Bel S, Carracedo A, Tomlinson I, Ruiz-Ponte C. BMP2 / BMP4 colorectal cancer susceptibility loci in northern and southern European populations. Carcinogenesis 2012, 34: 314-318. PMID: 23161572, DOI: 10.1093/carcin/bgs357.Peer-Reviewed Original ResearchMeSH KeywordsAdenocarcinomaAdultAgedBone Morphogenetic Protein 2Bone Morphogenetic Protein 4Case-Control StudiesColorectal NeoplasmsEuropeFemaleFollow-Up StudiesGene FrequencyGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansMaleMicrosatellite RepeatsMiddle AgedNeoplasm StagingPolymorphism, Single NucleotidePrognosisProspective StudiesRisk FactorsConceptsSingle nucleotide polymorphismsMinor allele frequencyCancer susceptibility lociColorectal cancer susceptibility lociSouthern European populationsBone morphogenetic protein (BMP) signalingSusceptibility lociGenome-wide association studiesEuropean populationsMorphogenetic protein signalingSet of populationsDifferential taggingProtein signalingAssociation signalsSouthern European cohortsAssociation studiesDisequilibrium patternsFunctional variantsCausative variantsFurther study designsNucleotide polymorphismsAllele frequenciesLack of replicationLociComplex consequencesSeeking genetic susceptibility variants for colorectal cancer: the EPICOLON consortium experience
Castellví-Bel S, Ruiz-Ponte C, Fernández-Rozadilla C, Abulí A, Muñoz J, Bessa X, Brea-Fernández A, Ferro M, Giráldez MD, Xicola RM, Llor X, Jover R, Piqué JM, Andreu M, Castells A, Carracedo A, Association F. Seeking genetic susceptibility variants for colorectal cancer: the EPICOLON consortium experience. Mutagenesis 2012, 27: 153-159. PMID: 22294762, DOI: 10.1093/mutage/ger047.Peer-Reviewed Original ResearchMeSH KeywordsClinical Trials as TopicColorectal NeoplasmsGenes, NeoplasmGenetic Predisposition to DiseaseGenome, HumanGenome-Wide Association StudyHumansPolymorphism, GeneticWhite PeopleConceptsPopulation-based colorectal cancer casesColorectal cancer casesExtensive clinical dataWhole-exome sequencingOncology GroupMulticentre studyColorectal cancerCRC casesControl subjectsFamilial CRCLynch syndromeCRC samplesCancer casesClinical dataFamilial historyCRC familiesGenetic susceptibility variantsCancerGenetic variantsPhase 1Pathways WntCandidate gene approachConsortium experienceSusceptibility variantsGenome-wide association studiesSusceptibility 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
Case-control study for colorectal cancer genetic susceptibility in EPICOLON: previously identified variants and mucins
Abulí A, Fernández-Rozadilla C, Alonso-Espinaco V, Muñoz J, Gonzalo V, Bessa X, González D, Clofent J, Cubiella J, Morillas JD, Rigau J, Latorre M, Fernández-Bañares F, Peña E, Riestra S, Payá A, Jover R, Xicola RM, Llor X, Carvajal-Carmona L, Villanueva CM, Moreno V, Piqué JM, Carracedo A, Castells A, Andreu M, Ruiz-Ponte C, Castellví-Bel S, for the Gastrointestinal Oncology Group of the Spanish Gastroenterological Association. Case-control study for colorectal cancer genetic susceptibility in EPICOLON: previously identified variants and mucins. BMC Cancer 2011, 11: 339. PMID: 21819567, PMCID: PMC3176240, DOI: 10.1186/1471-2407-11-339.Peer-Reviewed Original ResearchA 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 studies
2010
Susceptibility 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 AssociatedColorectal Cancer Susceptibility Quantitative Trait Loci in Mice as a Novel Approach to Detect Low-Penetrance Variants in Humans: A Two-Stage Case-Control Study
Fernández-Rozadilla C, Tarrío R, Clofent J, de Castro L, Brea-Fernández A, Bessa X, Abulí A, Andreu M, Jover R, Xicola R, Llor X, Castells A, Castellví-Bel S, Carracedo A, Ruiz-Ponte C, Association F. Colorectal Cancer Susceptibility Quantitative Trait Loci in Mice as a Novel Approach to Detect Low-Penetrance Variants in Humans: A Two-Stage Case-Control Study. Cancer Epidemiology Biomarkers & Prevention 2010, 19: 619-623. PMID: 20142256, DOI: 10.1158/1055-9965.epi-09-1175.Peer-Reviewed Original ResearchConceptsQuantitative trait lociLow-penetrance variantsTrait lociSingle nucleotide polymorphismsSusceptibility quantitative trait lociMouse quantitative trait lociHuman candidate genesSyntenic regionsGene selection strategyGenetic basisCyr61 geneCandidate genesPenetrant mutationsGenesLociPolygenic modelCancer susceptibilityEarly CRC detectionColorectal cancer susceptibilityGenetic modelingCRC riskPolymorphismColorectal cancerVariantsCRC detectionAberrant 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
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 ResearchMeSH KeywordsAgedColorectal NeoplasmsDNA GlycosylasesDNA Mutational AnalysisDNA-Binding ProteinsFemaleGenetic Predisposition to DiseaseGerm-Line MutationHumansImmunohistochemistryMalePolymerase Chain ReactionConceptsMonoallelic 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
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 historyDetection 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