2013
A 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 studies