2021
Molecular drivers of tumor progression in microsatellite stable APC mutation-negative colorectal cancers
Grant A, Xicola RM, Nguyen V, Lim J, Thorne C, Salhia B, Llor X, Ellis N, Padi M. Molecular drivers of tumor progression in microsatellite stable APC mutation-negative colorectal cancers. Scientific Reports 2021, 11: 23507. PMID: 34873211, PMCID: PMC8648784, DOI: 10.1038/s41598-021-02806-x.Peer-Reviewed Original ResearchMeSH KeywordsAdenomatous Polyposis ColiAdenomatous Polyposis Coli ProteinColorectal NeoplasmsDisease ProgressionDNA Copy Number VariationsDNA MethylationGenes, APCHumansMicrosatellite InstabilityMicrosatellite RepeatsMutationNeoplastic ProcessesPhenotypePromoter Regions, GeneticWnt Signaling PathwayConceptsAdenomatous polyposis coliMitochondrial activationDNA methylation profilesTumor suppressor gene adenomatous polyposis coliRNA expressionExpression of Axin2Cancer Genome AtlasIntracellular WntMethylation profilesAberrant regulationGene fusionsGenetic inactivationExtracellular WntNumber variationsGenome AtlasPolyposis coliSomatic mutationsAPC mutationsMutationsMolecular driversMutations of BRAFWntRSPO3Tumor progressionExpressionDickkopf-2 regulates the stem cell marker LGR5 in colorectal cancer via HNF4α1
Shin JH, Jeong J, Choi J, Lim J, Dinesh RK, Braverman J, Hong JY, Maher SE, Vesely M, Kim W, Koo JH, Tang W, Wu D, Blackburn HN, Xicola RM, Llor X, Yilmaz O, Choi JM, Bothwell ALM. Dickkopf-2 regulates the stem cell marker LGR5 in colorectal cancer via HNF4α1. IScience 2021, 24: 102411. PMID: 33997693, PMCID: PMC8099562, DOI: 10.1016/j.isci.2021.102411.Peer-Reviewed Original ResearchColorectal cancerDickkopf-2Colitis-associated cancerColorectal cancer stemnessStem cell marker Lgr5Colonic epithelial cellsAggressive progressionCancer stemnessLGR5 expressionColonic organoidsCancerEpithelial cellsCell marker genesStem cell marker genesSignificant increaseGenetic depletionWnt ligandsStem cellsProgressionLgr5StemnessCellsExpressionSequential mutationsMutations
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
2009
Association of MUTYH and MSH6 germline mutations in colorectal cancer patients
Giráldez MD, Balaguer F, Caldés T, Sanchez-de-Abajo A, Gómez-Fernández N, Ruiz-Ponte C, Muñoz J, Garre P, Gonzalo V, Moreira L, Ocaña T, Clofent J, Carracedo A, Andreu M, Jover R, Llor X, Castells A, Castellví-Bel S, Gastrointestinal Oncology Group of the Spanish Gastroenterological Association. Association of MUTYH and MSH6 germline mutations in colorectal cancer patients. Familial Cancer 2009, 8: 525. PMID: 19685280, DOI: 10.1007/s10689-009-9282-4.Peer-Reviewed Original ResearchConceptsMonoallelic MUTYH mutationsCRC patientsMSH6 mutationsMUTYH mutationsCRC riskGermline mutationsMUTYH mutation carriersColorectal cancer patientsColorectal cancer riskMSH6 germline mutationsCancer patientsHealthy carriersMutation carriersCancer riskPatientsGroup IIGroup IMUTYHRiskMissense mutationsMSH6Repair processNonsense mutationMutationsDNA repair processes