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
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
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 consequencesDefectos de la metilación del ADN en el cáncer colorrectal esporádico y hereditario
Xicola RM, Llor X. Defectos de la metilación del ADN en el cáncer colorrectal esporádico y hereditario. Gastroenterología Y Hepatología 2012, 35: 480-487. PMID: 22459641, DOI: 10.1016/j.gastrohep.2012.01.010.BooksMeSH KeywordsAdenocarcinomaAdenomaAnticarcinogenic AgentsAntineoplastic AgentsBiomarkersCell Transformation, NeoplasticClonal EvolutionColorectal NeoplasmsCpG IslandsDietDNA MethylationDNA, NeoplasmDrug DesignFolic AcidGenes, NeoplasmGenes, Tumor SuppressorGenome-Wide Association StudyHumansIncidenceMolecular Targeted TherapyMutationNeoplastic Syndromes, HereditaryPolyphenolsSeleniumConceptsMethylation defectsFundamental epigenetic mechanismCrucial cell functionsExpression of genesEpigenetic mechanismsDNA methylationGene analysisMethylationMethylation processCancer developmentCell functionDevelopment of chemotherapyEffect of dietGenesColorectal carcinogenesisAntineoplastic activity
2011
Validation 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 mutations
2009
Regulation of Colorectal Cancer Cell Apoptosis by the n-3 Polyunsaturated Fatty Acids Docosahexaenoic and Eicosapentaenoic
Giros A, Grzybowski M, Sohn VR, Pons E, Fernandez-Morales J, Xicola RM, Sethi P, Grzybowski J, Goel A, Boland CR, Gassull MA, Llor X. Regulation of Colorectal Cancer Cell Apoptosis by the n-3 Polyunsaturated Fatty Acids Docosahexaenoic and Eicosapentaenoic. Cancer Prevention Research 2009, 2: 732-742. PMID: 19638488, PMCID: PMC3793343, DOI: 10.1158/1940-6207.capr-08-0197.Peer-Reviewed Original ResearchConceptsExtrinsic pathwayColorectal cancer cell apoptosisIntrinsic pathwayColorectal cancer cellsImportant protective effectCancer cell apoptosisColorectal cancerCyclooxygenase-2Protective effectDifferent molecular phenotypesInduction of apoptosisTRAIL-R2Cell apoptosisTNF-R1Proapoptotic effectsDocosahexaenoicCancer cellsEicosapentaenoicAnticancer agentsApoptosisDeath receptorsMolecular phenotypesProapoptotic activityNoncancerous cellsCaspase-8 activation