2017
Race-dependent association of sulfidogenic bacteria with colorectal cancer
Yazici C, Wolf PG, Kim H, Cross TL, Vermillion K, Carroll T, Augustus GJ, Mutlu E, Tussing-Humphreys L, Braunschweig C, Xicola RM, Jung B, Llor X, Ellis NA, Gaskins HR. Race-dependent association of sulfidogenic bacteria with colorectal cancer. Gut 2017, 66: 1983. PMID: 28153960, PMCID: PMC5575988, DOI: 10.1136/gutjnl-2016-313321.Peer-Reviewed Original ResearchMeSH KeywordsAdenocarcinomaAdultAgedBlack or African AmericanCase-Control StudiesChicagoColonColorectal NeoplasmsDietDietary FatsDietary ProteinsFemaleHealth Status DisparitiesHumansIntestinal MucosaMaleMiddle AgedProspective StudiesReal-Time Polymerase Chain ReactionRisk FactorsSulfur-Reducing BacteriaWhite PeopleConceptsNon-Hispanic whitesEnvironmental risk factorsRisk factorsAA casesCRC casesColonic mucosaCRC developmentDisease statusAfrican AmericansCRC risk factorsUninvolved colonic mucosaColorectal cancer incidencePotential environmental risk factorsTumor-free controlsMultiple dietary componentsRace-dependent associationsEffect of dietColonic biopsiesColorectal cancerDaily servingsHealthy mucosaCancer incidenceDietary intakeProinflammatory pathwaysDiet high
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
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 consequencesA 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
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 studiesAnalysis of the Oxidative Damage Repair Genes NUDT1, OGG1, and MUTYH in Patients from Mismatch Repair Proficient HNPCC Families (MSS-HNPCC)
Garre P, Briceño V, Xicola RM, Doyle BJ, de la Hoya M, Sanz J, Llovet P, Pescador P, Puente J, Díaz-Rubio E, Llor X, Caldés T. Analysis of the Oxidative Damage Repair Genes NUDT1, OGG1, and MUTYH in Patients from Mismatch Repair Proficient HNPCC Families (MSS-HNPCC). Clinical Cancer Research 2011, 17: 1701-1712. PMID: 21355073, DOI: 10.1158/1078-0432.ccr-10-2491.Peer-Reviewed Original ResearchMeSH KeywordsCase-Control StudiesColorectal Neoplasms, Hereditary NonpolyposisDisease-Free SurvivalDNA DamageDNA GlycosylasesDNA Mismatch RepairDNA Repair EnzymesFemaleGene DosageGene FrequencyGenetic Association StudiesGenotypeHumansMaleMiddle AgedMutation, MissenseOxidation-ReductionPhosphoric Monoester HydrolasesPoint MutationRestriction MappingSequence Analysis, DNAConceptsRepair pathwaysOxidative DNA damageMajor DNA repair pathwaysDNA damageBase excision repair pathwayAmino acid conservationDNA repair pathwaysExcision repair pathwayRare variantsSplicing alterationsBER pathwayI familySplicing donorMolecular differencesTransversion mutationsExon 1OGG1Mutational screeningCancer susceptibilityPathwayNUDT1Segregation studiesMutationsSilico programsCommon polymorphismsEvidence 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
Single Nucleotide Polymorphisms in the Wnt and BMP Pathways and Colorectal Cancer Risk in a Spanish Cohort
Fernández-Rozadilla C, de Castro L, Clofent J, 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, . Single Nucleotide Polymorphisms in the Wnt and BMP Pathways and Colorectal Cancer Risk in a Spanish Cohort. PLOS ONE 2010, 5: e12673. PMID: 20844743, PMCID: PMC2936577, DOI: 10.1371/journal.pone.0012673.Peer-Reviewed Original ResearchConceptsBMP pathwayLow-penetrance variantsNew susceptibility lociNew risk variantsCandidate gene studiesCarcinogenesis-related pathwaysPathway-based studiesRegulatory SNPsSingle nucleotide polymorphismsAssociation studiesCase-control association studySusceptibility lociGenesSusceptibility variantsRisk variantsNucleotide polymorphismsComplex diseasesSigns of associationPolygenic modelPathwayWntHaplotypic analysisGenetic susceptibilityNatural strategyVariantsColorectal 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 detection
2007
Association of the ARLTS1 Cys148Arg variant with sporadic and familial colorectal cancer
Castellví-Bel S, Castells A, de Cid R, Muñoz J, Balaguer F, Gonzalo V, Ruiz-Ponte C, Andreu M, Llor X, Jover R, Bessa X, Xicola RM, Pons E, Alenda C, Payá A, Carracedo A, Piqué JM. Association of the ARLTS1 Cys148Arg variant with sporadic and familial colorectal cancer. Carcinogenesis 2007, 28: 1687-1691. PMID: 17449901, DOI: 10.1093/carcin/bgm098.Peer-Reviewed Original ResearchIdentification 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