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
675 Unveiling of DNA Repair Gene Alterations in Non-Lynch Hereditary Colorectal Cancer Through Exome Sequencing
Marwaha P, Xicola R, Kim Y, Snyder C, Carroll T, Syngal S, Buxbaum S, Zhang M, Want S, Lynch H, Bessa X, Andreu M, Jover R, Carracedo A, Castells A, Caldes T, Ellis N, Llor X. 675 Unveiling of DNA Repair Gene Alterations in Non-Lynch Hereditary Colorectal Cancer Through Exome Sequencing. Gastroenterology 2014, 146: s-119. DOI: 10.1016/s0016-5085(14)60429-7.Peer-Reviewed Original ResearchDNA repair gene alterationsHereditary colorectal cancerColorectal cancerExome sequencingGene alterationsCancer