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 ResearchConceptsHereditary 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
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
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
Genetic 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
Susceptibility 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
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 Research