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 susceptibilityLociHeritabilitySNPsA 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
BMP2 / BMP4 colorectal cancer susceptibility loci in northern and southern European populations
Fernandez-Rozadilla C, Palles C, Carvajal-Carmona L, Peterlongo P, Nici C, Veneroni S, Pinheiro M, Teixeira MR, Moreno V, Lamas MJ, Baiget M, Lopez-Fernandez L, Gonzalez D, Brea-Fernandez A, Clofent J, Bujanda L, Bessa X, Andreu M, Xicola R, Llor X, Jover R, Consortium T, Castells A, Castellvi-Bel S, Carracedo A, Tomlinson I, Ruiz-Ponte C. BMP2 / BMP4 colorectal cancer susceptibility loci in northern and southern European populations. Carcinogenesis 2012, 34: 314-318. PMID: 23161572, DOI: 10.1093/carcin/bgs357.Peer-Reviewed Original ResearchMeSH KeywordsAdenocarcinomaAdultAgedBone Morphogenetic Protein 2Bone Morphogenetic Protein 4Case-Control StudiesColorectal NeoplasmsEuropeFemaleFollow-Up StudiesGene FrequencyGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansMaleMicrosatellite RepeatsMiddle AgedNeoplasm StagingPolymorphism, Single NucleotidePrognosisProspective StudiesRisk FactorsConceptsSingle nucleotide polymorphismsMinor allele frequencyCancer susceptibility lociColorectal cancer susceptibility lociSouthern European populationsBone morphogenetic protein (BMP) signalingSusceptibility lociGenome-wide association studiesEuropean populationsMorphogenetic protein signalingSet of populationsDifferential taggingProtein signalingAssociation signalsSouthern European cohortsAssociation studiesDisequilibrium patternsFunctional variantsCausative variantsFurther study designsNucleotide polymorphismsAllele frequenciesLack of replicationLociComplex consequences
2010
Colorectal Cancer Susceptibility Quantitative Trait Loci in Mice as a Novel Approach to Detect Low-Penetrance Variants in Humans: A Two-Stage Case-Control Study
Fernández-Rozadilla C, Tarrío R, Clofent J, de Castro L, 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, Association F. Colorectal Cancer Susceptibility Quantitative Trait Loci in Mice as a Novel Approach to Detect Low-Penetrance Variants in Humans: A Two-Stage Case-Control Study. Cancer Epidemiology Biomarkers & Prevention 2010, 19: 619-623. PMID: 20142256, DOI: 10.1158/1055-9965.epi-09-1175.Peer-Reviewed Original ResearchConceptsQuantitative trait lociLow-penetrance variantsTrait lociSingle nucleotide polymorphismsSusceptibility quantitative trait lociMouse quantitative trait lociHuman candidate genesSyntenic regionsGene selection strategyGenetic basisCyr61 geneCandidate genesPenetrant mutationsGenesLociPolygenic modelCancer susceptibilityEarly CRC detectionColorectal cancer susceptibilityGenetic modelingCRC riskPolymorphismColorectal cancerVariantsCRC detection