2012
A High Degree of LINE-1 Hypomethylation Is a Unique Feature of Early-Onset Colorectal Cancer
Antelo M, Balaguer F, Shia J, Shen Y, Hur K, Moreira L, Cuatrecasas M, Bujanda L, Giraldez MD, Takahashi M, Cabanne A, Barugel ME, Arnold M, Roca EL, Andreu M, Castellvi-Bel S, Llor X, Jover R, Castells A, Boland CR, Goel A. A High Degree of LINE-1 Hypomethylation Is a Unique Feature of Early-Onset Colorectal Cancer. PLOS ONE 2012, 7: e45357. PMID: 23049789, PMCID: PMC3458035, DOI: 10.1371/journal.pone.0045357.Peer-Reviewed Original ResearchMeSH KeywordsAdaptor Proteins, Signal TransducingAdenomaAdultAge of OnsetArgentinaCase-Control StudiesColorectal NeoplasmsColorectal Neoplasms, Hereditary NonpolyposisDNA GlycosylasesDNA MethylationDNA-Binding ProteinsFemaleGene ExpressionGerm-Line MutationHumansLong Interspersed Nucleotide ElementsMaleMicrosatellite InstabilityMiddle AgedMutL Protein Homolog 1MutS Homolog 3 ProteinNuclear ProteinsProto-Oncogene Proteins B-rafSpainSurvival AnalysisUnited StatesConceptsEarly-onset colorectal cancerColorectal cancerLINE-1 methylationLINE-1 hypomethylationLynch syndrome colorectal cancersMismatch repair protein expressionSomatic BRAF V600E mutationNormal colonic mucosa samplesBetter overall survivalCancer-related mortalityMean LINE-1 methylation levelGermline MUTYH mutationsSporadic colorectal cancerRepair protein expressionColonic mucosa samplesMicrosatellite instability statusDistinct molecular subtypesBRAF V600E mutationLINE-1 methylation levelsLower LINE-1 methylationOverall survivalCRC tissuesMethylation statusPoor prognosisLynch syndrome
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
2007
Identification of MYH Mutation Carriers in Colorectal Cancer: A Multicenter, Case-Control, Population-Based Study
Balaguer F, Castellví–Bel S, Castells A, Andreu M, Muñoz J, Gisbert JP, Llor X, Jover R, de Cid R, Gonzalo V, Bessa X, Xicola RM, Pons E, Alenda C, Payá A, Piqué JM, Association G. Identification of MYH Mutation Carriers in Colorectal Cancer: A Multicenter, Case-Control, Population-Based Study. Clinical Gastroenterology And Hepatology 2007, 5: 379-387. PMID: 17368238, DOI: 10.1016/j.cgh.2006.12.025.Peer-Reviewed Original ResearchMeSH KeywordsAdenomatous Polyposis ColiAge DistributionAgedAged, 80 and overBase Pair MismatchCase-Control StudiesColorectal NeoplasmsConfidence IntervalsDNA GlycosylasesDNA Mutational AnalysisFemaleGenes, APCGenetic Predisposition to DiseaseGerm-Line MutationHeterozygoteHumansIncidenceMaleMiddle AgedOdds RatioPrognosisProspective StudiesReference ValuesRisk AssessmentSex DistributionSpainSurvival RateConceptsColorectal cancerMYH mutationsCRC patientsClinical criteriaMutation carriersMonoallelic carriersGermline MYH mutationsPrevious case-control studyAdditional pathogenic variantsPopulation-based studyBiallelic MYH mutationsCase-control studySynchronous colorectal adenomasCRC riskControl subjectsColorectal adenomasPreventive strategiesCase controlPathogenic variantsSignificant associationAbstractTextBiallelic mutationsMonoallelic mutationsConformation polymorphism analysisSignificant risk