2015
Mutation Spectrum and Risk of Colorectal Cancer in African American Families with Lynch Syndrome
Santa Cruz Guindalini R, Win AK, Gulden C, Lindor NM, Newcomb PA, Haile RW, Raymond V, Stoffel E, Hall M, Llor X, Ukaegbu CI, Solomon I, Weitzel J, Kalady M, Blanco A, Terdiman J, Shuttlesworth GA, Lynch PM, Hampel H, Lynch HT, Jenkins MA, Olopade OI, Kupfer SS. Mutation Spectrum and Risk of Colorectal Cancer in African American Families with Lynch Syndrome. Gastroenterology 2015, 149: 1446-1453. PMID: 26248088, PMCID: PMC4648287, DOI: 10.1053/j.gastro.2015.07.052.Peer-Reviewed Original ResearchMeSH KeywordsAdaptor Proteins, Signal TransducingAdenosine TriphosphatasesAdultAge FactorsAgedAged, 80 and overBlack or African AmericanColorectal NeoplasmsColorectal Neoplasms, Hereditary NonpolyposisDNA Mismatch RepairDNA Repair EnzymesDNA-Binding ProteinsFamilyFemaleHumansIncidenceMaleMiddle AgedMismatch Repair Endonuclease PMS2MutationMutL Protein Homolog 1MutS Homolog 2 ProteinNuclear ProteinsRetrospective StudiesRisk FactorsSex FactorsConceptsColorectal cancerLynch syndromeCumulative riskRisk of CRCUS referral centersMMR gene mutationsMutation spectrumNongenetic risk factorsYears of ageMismatch repair genesMMR gene productsMutation-carrying familiesReferral centerRetrospective studyCRC riskRisk factorsFamily historyCancer riskHigh incidenceCRC conditionsSyndromeAbstractTextMMR genesAscertainment criteriaCancer
2010
5-Fluorouracil Adjuvant Chemotherapy Does Not Increase Survival in Patients With CpG Island Methylator Phenotype Colorectal Cancer
Jover R, Nguyen T, Pérez–Carbonell L, Zapater P, Payá A, Alenda C, Rojas E, Cubiella J, Balaguer F, Morillas JD, Clofent J, Bujanda L, Reñé JM, Bessa X, Xicola RM, Nicolás–Pérez D, Castells A, Andreu M, Llor X, Boland CR, Goel A. 5-Fluorouracil Adjuvant Chemotherapy Does Not Increase Survival in Patients With CpG Island Methylator Phenotype Colorectal Cancer. Gastroenterology 2010, 140: 1174-1181. PMID: 21185836, PMCID: PMC3073650, DOI: 10.1053/j.gastro.2010.12.035.Peer-Reviewed Original ResearchMeSH KeywordsAgedAged, 80 and overAntimetabolites, AntineoplasticChemotherapy, AdjuvantCohort StudiesColorectal NeoplasmsCpG IslandsDisease-Free SurvivalDNA MethylationFemaleFluorouracilFollow-Up StudiesHumansKaplan-Meier EstimateMaleMiddle AgedPhenotypePredictive Value of TestsPrognosisProportional Hazards ModelsConceptsCpG island methylator phenotypeCIMP-positive tumorsAdjuvant chemotherapyColorectal cancerCIMP statusColorectal tumorsIndependent predictorsStage IITNM stage IIDisease-free survivalOnly independent predictorPopulation-based cohortResponse of patientsMedian followChemotherapySurvival timePatientsMLH1 promoterMultivariate analysisTumorsAbstractTextMicrosatellite instabilityCIMP-negative tumorsDFSMethylator phenotypeSusceptibility Genetic Variants Associated With Colorectal Cancer Risk Correlate With Cancer Phenotype
Abulí A, Bessa X, González JR, Ruiz–Ponte C, Cáceres A, Muñoz J, Gonzalo V, Balaguer F, Fernández–Rozadilla C, González D, de Castro L, Clofent J, Bujanda L, Cubiella J, Reñé J, Morillas JD, Lanas Á, Rigau J, García A, Latorre M, Saló J, Bañares F, Argüello L, Peña E, Vilella À, Riestra S, Carreño R, Paya A, Alenda C, Xicola RM, Doyle BJ, Jover R, Llor X, Carracedo A, Castells A, Castellví–Bel S, Andreu M, Association G. Susceptibility Genetic Variants Associated With Colorectal Cancer Risk Correlate With Cancer Phenotype. Gastroenterology 2010, 139: 788-796.e6. PMID: 20638935, DOI: 10.1053/j.gastro.2010.05.072.Peer-Reviewed Original ResearchMeSH KeywordsAgedAged, 80 and overCell DifferentiationChromosomes, Human, Pair 16Chromosomes, Human, Pair 8Colorectal NeoplasmsFemaleGene Expression Regulation, NeoplasticGene FrequencyGenetic Association StudiesGenetic Predisposition to DiseaseHumansLogistic ModelsMaleMiddle AgedNeoplasm StagingOdds RatioPedigreePhenotypePolymorphism, Single NucleotideProspective StudiesReproducibility of ResultsRisk AssessmentRisk FactorsSpainConceptsCRC phenotypeColorectal cancer riskPopulation-based cohortAdvanced stage tumorsCancer phenotypeGenetic variantsCRC managementSpanish cohortColorectal adenomasCancer riskFamilial historyG allelePatientsC alleleGenetic Variants AssociatedPrevention programsSurveillance strategiesAbstractTextLogistic regressionRisk correlatesCRCAIMSReplication setCohortVariants Associated
2007
Validation and Extension of the PREMM1,2 Model in a Population-Based Cohort of Colorectal Cancer Patients
Balaguer F, Balmaña J, Castellví–Bel S, Steyerberg EW, Andreu M, Llor X, Jover R, Syngal S, Castells A, Association G. Validation and Extension of the PREMM1,2 Model in a Population-Based Cohort of Colorectal Cancer Patients. Gastroenterology 2007, 134: 39-46. PMID: 18061181, PMCID: PMC2542581, DOI: 10.1053/j.gastro.2007.10.042.Peer-Reviewed Original ResearchMeSH KeywordsAdaptor Proteins, Signal TransducingAgedAged, 80 and overCohort StudiesColorectal NeoplasmsDNA Mismatch RepairFemaleGenetic Carrier ScreeningGerm-Line MutationHumansLogistic ModelsMaleMiddle AgedMutL Protein Homolog 1MutL ProteinsNeoplasm ProteinsNuclear ProteinsPredictive Value of TestsReproducibility of ResultsSpainConceptsPositive predictive valueColorectal cancer patientsMMR testingGermline testingCancer patientsMLH1/MSH2 mutation carriersUnselected colorectal cancer patientsMSH2 mutation carriersColorectal cancer populationPopulation-based cohortColorectal cancer casesRecognition of patientsBRAF V600E mutationBRAF V600E mutation analysisMicrosatellite instability analysisCancer populationMismatch repairLynch syndromeCancer casesMutation carriersPredictive valueV600E mutationMMR deficiencyPatientsAbstractTextIdentification 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