2008
Comparison of predictive models, clinical criteria and molecular tumour screening for the identification of patients with Lynch syndrome in a population-based cohort of colorectal cancer patients
Balmaña J, Balaguer F, Castellví-Bel S, Steyerberg EW, Andreu M, Llor X, Jover R, Castells A, Syngal S, Association F. Comparison of predictive models, clinical criteria and molecular tumour screening for the identification of patients with Lynch syndrome in a population-based cohort of colorectal cancer patients. Journal Of Medical Genetics 2008, 45: 557. PMID: 18603628, DOI: 10.1136/jmg.2008.059311.Peer-Reviewed Original ResearchMeSH KeywordsAdaptor Proteins, Signal TransducingAdultAgedAged, 80 and overCohort StudiesColorectal NeoplasmsColorectal Neoplasms, Hereditary NonpolyposisDNA Mutational AnalysisFemaleGenetic Carrier ScreeningGenetic TestingHeterozygoteHumansMaleMiddle AgedModels, GeneticMutL Protein Homolog 1MutS Homolog 2 ProteinNuclear ProteinsConceptsMLH1/MSH2 mutation carriersPositive predictive valueMSH2 mutation carriersMutation carriersMMR deficiencyClinical criteriaMismatch repair gene mutationsAmsterdam II criteriaColorectal cancer patientsIdentification of patientsPopulation-based cohortOverall discriminative abilityColorectal cancer cohortRepair gene mutationsGermline testingCRC patientsBethesda guidelinesCancer patientsLynch syndromeCancer cohortPredictive scorePredictive valueSimilar AUCMicrosatellite instabilityObserved prevalence
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 deficiencyPatientsAbstractText