2021
Analysis of Survival Among Adults With Early-Onset Colorectal Cancer in the National Cancer Database
Cheng E, Blackburn HN, Ng K, Spiegelman D, Irwin ML, Ma X, Gross CP, Tabung FK, Giovannucci EL, Kunz PL, Llor X, Billingsley K, Meyerhardt JA, Ahuja N, Fuchs CS. Analysis of Survival Among Adults With Early-Onset Colorectal Cancer in the National Cancer Database. JAMA Network Open 2021, 4: e2112539. PMID: 34132794, PMCID: PMC8209612, DOI: 10.1001/jamanetworkopen.2021.12539.Peer-Reviewed Original ResearchConceptsEarly-onset colorectal cancerOnset colorectal cancerNational Cancer DatabaseColorectal cancerAge 51Overall survivalCancer DatabaseIncidence of CRCCox proportional hazards regressionPrimary colorectal cancerKaplan-Meier analysisProportional hazards regressionAge 50 yearsAge 25 yearsAnalysis of survivalCohort studySurvival benefitHazards regressionUnadjusted analysesCancer incidenceMAIN OUTCOMEAge 35Survival advantageLower riskStage I
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 criteriaCancer
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
Defectos 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
2007
Detection 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 riskAssociation 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