2016
Association of a let-7 miRNA binding region of TGFBR1 with hereditary mismatch repair proficient colorectal cancer (MSS HNPCC)
Xicola RM, Bontu S, Doyle BJ, Rawson J, Garre P, Lee E, de la Hoya M, Bessa X, Clofent J, Bujanda L, Balaguer F, Castellví-Bel S, Alenda C, Jover R, Ruiz-Ponte C, Syngal S, Andreu M, Carracedo A, Castells A, Newcomb PA, Lindor N, Potter JD, Baron JA, Ellis NA, Caldes T, LLor X. Association of a let-7 miRNA binding region of TGFBR1 with hereditary mismatch repair proficient colorectal cancer (MSS HNPCC). Carcinogenesis 2016, 37: 751-758. PMID: 27234654, PMCID: PMC4967215, DOI: 10.1093/carcin/bgw064.Peer-Reviewed Original ResearchAdultAgedAllelesAxin ProteinBeta CateninBinding SitesColorectal Neoplasms, Hereditary NonpolyposisDNA Mismatch RepairDNA Modification MethylasesDNA Repair EnzymesFemaleGene Expression Regulation, NeoplasticGenotypeHumansMaleMicrosatellite InstabilityMiddle AgedProtein Serine-Threonine KinasesReceptor, Transforming Growth Factor-beta Type IReceptor, Transforming Growth Factor-beta Type IIReceptors, Transforming Growth Factor betaTumor Suppressor Proteins
2014
Multiple Sporadic Colorectal Cancers Display a Unique Methylation Phenotype
Gonzalo V, Lozano JJ, Alonso-Espinaco V, Moreira L, Muñoz J, Pellisé M, Castellví-Bel S, Bessa X, Andreu M, Xicola RM, Llor X, Ruiz-Ponte C, Carracedo A, Jover R, Castells A, Balaguer F, . Multiple Sporadic Colorectal Cancers Display a Unique Methylation Phenotype. PLOS ONE 2014, 9: e91033. PMID: 24643221, PMCID: PMC3958343, DOI: 10.1371/journal.pone.0091033.Peer-Reviewed Original ResearchMeSH KeywordsAgedAged, 80 and overColorectal NeoplasmsCpG IslandsDNA MethylationEpigenesis, GeneticFemaleGene Expression Regulation, NeoplasticGenome-Wide Association StudyGenotypeHumansMaleMiddle AgedNeoplasms, Multiple PrimaryPhenotypeProto-Oncogene ProteinsProto-Oncogene Proteins B-rafProto-Oncogene Proteins p21(ras)Ras ProteinsConceptsMultiple colorectal cancersColorectal cancerSporadic colorectal cancerMultiple tumorsCpG island methylator phenotypeSolitary tumorTumor multiplicityMismatch repair deficiency statusSynchronous colorectal cancerMethylation phenotypeCIMP-high tumorsDNA methylation profilingDNA hypermethylationBRAF mutationsDeficiency statusSignificant DNA hypermethylationTumorsTumor samplesMethylation profilingMethyLight assayTumor pairsMethylator phenotypeCpG sitesFunctional annotation clusteringPatientsGenetic variation in vitamin D-related genes and risk of colorectal cancer in African Americans
Pibiri F, Kittles RA, Sandler RS, Keku TO, Kupfer SS, Xicola RM, Llor X, Ellis NA. Genetic variation in vitamin D-related genes and risk of colorectal cancer in African Americans. Cancer Causes & Control 2014, 25: 561-570. PMID: 24562971, PMCID: PMC3978221, DOI: 10.1007/s10552-014-0361-y.Peer-Reviewed Original Research
2013
Genetic 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
Susceptibility 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
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 polymorphismsEvidence for classification of c.1852_1853AA>GC in MLH1 as a neutral variant for Lynch syndrome
Castillejo A, Guarinos C, Martinez-Canto A, Barbera VM, Egoavil C, Castillejo MI, Perez-Carbonell L, Sanchez-Heras AB, Segura A, Ochoa E, Lazaro R, Ruiz-Ponte C, Bujanda L, Andreu M, Castells A, Carracedo A, Llor X, Clofent J, Alenda C, Paya A, Jover R, Soto JL. Evidence for classification of c.1852_1853AA>GC in MLH1 as a neutral variant for Lynch syndrome. BMC Medical Genomics 2011, 12: 12. PMID: 21247423, PMCID: PMC3034663, DOI: 10.1186/1471-2350-12-12.Peer-Reviewed Original ResearchConceptsMicrosatellite instabilityLS familiesAmsterdam II criteriaPathogenic mutationsCase-case studyEarly-onset cancersCase-control comparisonBackgroundLynch syndromeCRC probandsHereditary CRCTumor DNA samplesCRC patientsSporadic CRCLS patientsClinical managementLynch syndromeClinical significanceOnset cancerCancer syndromesPositive casesMononucleotide markersControl populationPathogenic variantsSignificant associationMSH6 gene