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 susceptibilityLociHeritabilitySNPs
2011
Analysis of the Oxidative Damage Repair Genes NUDT1, OGG1, and MUTYH in Patients from Mismatch Repair Proficient HNPCC Families (MSS-HNPCC)
Garre P, Briceño V, Xicola RM, Doyle BJ, de la Hoya M, Sanz J, Llovet P, Pescador P, Puente J, Díaz-Rubio E, Llor X, Caldés T. Analysis of the Oxidative Damage Repair Genes NUDT1, OGG1, and MUTYH in Patients from Mismatch Repair Proficient HNPCC Families (MSS-HNPCC). Clinical Cancer Research 2011, 17: 1701-1712. PMID: 21355073, DOI: 10.1158/1078-0432.ccr-10-2491.Peer-Reviewed Original ResearchMeSH KeywordsCase-Control StudiesColorectal Neoplasms, Hereditary NonpolyposisDisease-Free SurvivalDNA DamageDNA GlycosylasesDNA Mismatch RepairDNA Repair EnzymesFemaleGene DosageGene FrequencyGenetic Association StudiesGenotypeHumansMaleMiddle AgedMutation, MissenseOxidation-ReductionPhosphoric Monoester HydrolasesPoint MutationRestriction MappingSequence Analysis, DNAConceptsRepair pathwaysOxidative DNA damageMajor DNA repair pathwaysDNA damageBase excision repair pathwayAmino acid conservationDNA repair pathwaysExcision repair pathwayRare variantsSplicing alterationsBER pathwayI familySplicing donorMolecular differencesTransversion mutationsExon 1OGG1Mutational screeningCancer susceptibilityPathwayNUDT1Segregation studiesMutationsSilico programsCommon polymorphisms