2014
The MLH1 c.1852_1853delinsGC (p.K618A) Variant in Colorectal Cancer: Genetic Association Study in 18,723 Individuals
Abulí A, Bujanda L, Muñoz J, Buch S, Schafmayer C, Valeria Maiorana M, Veneroni S, van Wezel T, Liu T, Westers H, Esteban-Jurado C, Ocaña T, Piqué JM, Andreu M, Jover R, Carracedo A, Xicola RM, Llor X, Castells A, , Dunlop M, Hofstra R, Lindblom A, Wijnen J, Peterlongo P, Hampe J, Ruiz-Ponte C, Castellví-Bel S. The MLH1 c.1852_1853delinsGC (p.K618A) Variant in Colorectal Cancer: Genetic Association Study in 18,723 Individuals. PLOS ONE 2014, 9: e95022. PMID: 24743384, PMCID: PMC3990597, DOI: 10.1371/journal.pone.0095022.Peer-Reviewed Original ResearchMeSH KeywordsAdaptor Proteins, Signal TransducingAdenosine TriphosphatasesAmino Acid SubstitutionCohort StudiesColorectal NeoplasmsDNA Repair EnzymesDNA-Binding ProteinsFemaleGenetic Association StudiesGerm-Line MutationHumansINDEL MutationMaleMismatch Repair Endonuclease PMS2Mutation, MissenseMutL Protein Homolog 1MutS Homolog 2 ProteinNuclear ProteinsConceptsColorectal cancerPathological characteristicsLynch syndromeCase-control studyLynch syndrome tumorsFamilial adenomatous polyposisDefective DNA mismatch repairGenotype-phenotype correlationFrequent neoplasmLow-penetrance variantsFamily historyLarge cohortImportant causeAdenomatous polyposisTotal burdenGenetic susceptibilityGermline mutationsUncertain significancePathogenic consequencesSyndromeMLH1 geneCommon formDNA mismatch repairMendelian syndromesRisk variants
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 strategyVariantsColorectal 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