2021
Exome sequencing of early-onset patients supports genetic heterogeneity in colorectal cancer
Fernández-Rozadilla C, Álvarez-Barona M, Quintana I, López-Novo A, Amigo J, Cameselle-Teijeiro J, Roman E, Gonzalez D, Llor X, Bujanda L, Bessa X, Jover R, Balaguer F, Castells A, Castellví-Bel S, Capellá G, Carracedo A, Valle L, Ruiz-Ponte C. Exome sequencing of early-onset patients supports genetic heterogeneity in colorectal cancer. Scientific Reports 2021, 11: 11135. PMID: 34045552, PMCID: PMC8159954, DOI: 10.1038/s41598-021-90590-z.Peer-Reviewed Original ResearchMeSH KeywordsAdultColorectal NeoplasmsDNA HelicasesDNA Repair EnzymesDNA-Binding ProteinsExomeExome SequencingFemaleGene Expression Regulation, NeoplasticGenetic HeterogeneityGenetic Predisposition to DiseaseHumansMaleMethyltransferasesMiddle AgedPoly-ADP-Ribose Binding ProteinsProtein Tyrosine Phosphatase, Non-Receptor Type 13ConceptsEarly-onset CRC patientsColorectal cancerCRC patientsEarly-onset patientsGenetic variantsPotential risk allelesCRC onsetYoungest caseCRC developmentIndependent patientsPatientsTruncating variantsRisk allelesExome sequencingNovel genetic variantsRobust studiesTDG geneDisease developmentCandidate variantsCancerMolecular heterogeneityDiseaseComplex diseasesGenetic heterogeneityHigh-impact 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