2013
A genome-wide association study on copy-number variation identifies a 11q11 loss as a candidate susceptibility variant for colorectal cancer
Fernandez-Rozadilla C, Cazier JB, Tomlinson I, Brea-Fernández A, Lamas MJ, Baiget M, López-Fernández LA, Clofent J, Bujanda L, Gonzalez D, de Castro L, The EPICOLON Consortium, Hemminki K, Bessa X, Andreu M, Jover R, Xicola R, Llor X, Moreno V, Castells A, Castellví-Bel S, Carracedo A, Ruiz-Ponte C. A genome-wide association study on copy-number variation identifies a 11q11 loss as a candidate susceptibility variant for colorectal cancer. Human Genetics 2013, 133: 525-534. PMID: 24218287, DOI: 10.1007/s00439-013-1390-4.Peer-Reviewed Original ResearchConceptsGenome-wide association studiesCommon copy number variantsAssociation studiesGenetic variantsWide association studyCommon structural variationCandidate susceptibility variantsCopy number variationsCopy number variantsSNP variationGenomic sourcesObserved heritabilityCopy number statusSusceptibility variantsComplex diseasesQuantitative PCRStructural variationsEnvironmental factorsGenetic fractionsCRC developmentVariantsCRC susceptibilityLociHeritabilitySNPsGenetic 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 factorsA colorectal cancer genome-wide association study in a Spanish cohort identifies two variants associated with colorectal cancer risk at 1p33 and 8p12
Fernandez-Rozadilla C, Cazier JB, Tomlinson IP, Carvajal-Carmona LG, Palles C, Lamas MJ, Baiget M, López-Fernández LA, Brea-Fernández A, Abulí A, Bujanda L, Clofent J, Gonzalez D, Xicola R, Andreu M, Bessa X, Jover R, Llor X, The EPICOLON Consortium, Moreno V, Castells A, Carracedo Á, Castellvi-Bel S, Ruiz-Ponte C. A colorectal cancer genome-wide association study in a Spanish cohort identifies two variants associated with colorectal cancer risk at 1p33 and 8p12. BMC Genomics 2013, 14: 55. PMID: 23350875, PMCID: PMC3616862, DOI: 10.1186/1471-2164-14-55.Peer-Reviewed Original ResearchMeSH KeywordsAgedAged, 80 and overChromosomes, Human, Pair 1Chromosomes, Human, Pair 8Cohort StudiesColorectal NeoplasmsDual-Specificity PhosphatasesFemaleGenetic LociGenome, HumanGenome-Wide Association StudyGenotypeHumansMaleMiddle AgedMitogen-Activated Protein Kinase PhosphatasesOdds RatioPolymorphism, Single NucleotidePrincipal Component AnalysisRisk FactorsSpainWhite PeopleConceptsGenome-wide association studiesAssociation studiesGenome-wide statistical significanceCancer genome-wide association studySusceptibility variantsCommon low-risk variantsRisk variantsColorectal cancer genome-wide association studyGood functional candidatesLow-risk variantsCRC susceptibility lociAssociation signalsNew susceptibility variantsCRC risk variantsSusceptibility lociSouthern European populationsLociFunctional candidateEuropean populationsNorthern European originSNPsReplication cohortComplex etiologyEuropean originVariants
2012
Seeking genetic susceptibility variants for colorectal cancer: the EPICOLON consortium experience
Castellví-Bel S, Ruiz-Ponte C, Fernández-Rozadilla C, Abulí A, Muñoz J, Bessa X, Brea-Fernández A, Ferro M, Giráldez MD, Xicola RM, Llor X, Jover R, Piqué JM, Andreu M, Castells A, Carracedo A, Association F. Seeking genetic susceptibility variants for colorectal cancer: the EPICOLON consortium experience. Mutagenesis 2012, 27: 153-159. PMID: 22294762, DOI: 10.1093/mutage/ger047.Peer-Reviewed Original ResearchConceptsPopulation-based colorectal cancer casesColorectal cancer casesExtensive clinical dataWhole-exome sequencingOncology GroupMulticentre studyColorectal cancerCRC casesControl subjectsFamilial CRCLynch syndromeCRC samplesCancer casesClinical dataFamilial historyCRC familiesGenetic susceptibility variantsCancerGenetic variantsPhase 1Pathways WntCandidate gene approachConsortium experienceSusceptibility variantsGenome-wide association studiesSusceptibility 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
2010
Single Nucleotide Polymorphisms in the Wnt and BMP Pathways and Colorectal Cancer Risk in a Spanish Cohort
Fernández-Rozadilla C, de Castro L, Clofent J, Brea-Fernández A, Bessa X, Abulí A, Andreu M, Jover R, Xicola R, Llor X, Castells A, Castellví-Bel S, Carracedo A, Ruiz-Ponte C, . Single Nucleotide Polymorphisms in the Wnt and BMP Pathways and Colorectal Cancer Risk in a Spanish Cohort. PLOS ONE 2010, 5: e12673. PMID: 20844743, PMCID: PMC2936577, DOI: 10.1371/journal.pone.0012673.Peer-Reviewed Original ResearchConceptsBMP pathwayLow-penetrance variantsNew susceptibility lociNew risk variantsCandidate gene studiesCarcinogenesis-related pathwaysPathway-based studiesRegulatory SNPsSingle nucleotide polymorphismsAssociation studiesCase-control association studySusceptibility lociGenesSusceptibility variantsRisk variantsNucleotide polymorphismsComplex diseasesSigns of associationPolygenic modelPathwayWntHaplotypic analysisGenetic susceptibilityNatural strategyVariants
2009
767 Genotype-Phenotype Correlation of Genetic Susceptibility Variants Identified Through Genome-Wide Association Studies for Colorectal Cancer
Abulí A, Bessa X, Ruiz-Ponte C, Fernandez-Rozadilla C, Carracedo A, Ilzarbe L, Llor X, Jover R, Muñoz J, Castells A, Castellvi-Bel S, Andreu M. 767 Genotype-Phenotype Correlation of Genetic Susceptibility Variants Identified Through Genome-Wide Association Studies for Colorectal Cancer. Gastroenterology 2009, 136: a-120. DOI: 10.1016/s0016-5085(09)60537-0.Peer-Reviewed Original Research