2011
Evidence 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
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
2006
Cyclooxygenase 2 Expression in Colorectal Cancer with DNA Mismatch Repair Deficiency
Castells A, Payá A, Alenda C, Rodríguez-Moranta F, Agrelo R, Andreu M, Piñol V, Castellví-Bel S, Jover R, Llor X, Pons E, Elizalde JI, Bessa X, Alcedo J, Saló J, Medina E, Naranjo A, Esteller M, Piqué J, Association F. Cyclooxygenase 2 Expression in Colorectal Cancer with DNA Mismatch Repair Deficiency. Clinical Cancer Research 2006, 12: 1686-1692. PMID: 16551850, DOI: 10.1158/1078-0432.ccr-05-1581.Peer-Reviewed Original ResearchConceptsMMR-deficient colorectal cancerCOX-2 overexpressionCOX-2 expressionHereditary nonpolyposis colorectal cancerColorectal cancer patientsColorectal cancerGerm-line mutationsCancer patientsMLH1 expressionSporadic tumorsNonsteroidal anti-inflammatory drugsCOX-2 protein expressionDefective mismatch repair systemAmsterdam II criteriaDNA mismatch repair deficiencySubset of patientsAnti-inflammatory drugsCyclooxygenase-2 expressionCyclooxygenase-2 (COX-2) overexpressionNonpolyposis colorectal cancerMismatch repair deficiencyLack of responseMulticenter studyPatientsMSH2 expression
2005
Differential Features of Colorectal Cancers Fulfilling Amsterdam Criteria without Involvement of the Mutator Pathway
Llor X, Pons E, Xicola RM, Castells A, Alenda C, Piñol V, Andreu M, Castellví-Bel S, Payá A, Jover R, Bessa X, Girós A, Roca A, Gassull MA, Association F. Differential Features of Colorectal Cancers Fulfilling Amsterdam Criteria without Involvement of the Mutator Pathway. Clinical Cancer Research 2005, 11: 7304-7310. PMID: 16243801, DOI: 10.1158/1078-0432.ccr-05-0965.Peer-Reviewed Original ResearchMeSH KeywordsAdaptor Proteins, Signal TransducingAgedAged, 80 and overCarrier ProteinsCohort StudiesColorectal NeoplasmsColorectal Neoplasms, Hereditary NonpolyposisDNA Mutational AnalysisDNA-Binding ProteinsFemaleGerm-Line MutationHumansImmunohistochemistryMaleMicrosatellite RepeatsMiddle AgedMutationMutL Protein Homolog 1MutS Homolog 2 ProteinNuclear ProteinsProspective StudiesSpainConceptsHereditary nonpolyposis colorectal cancerHNPCC patientsAmsterdam criteriaColorectal cancerPathway alterationsMicrosatellite instabilityMetachronous adenomatous polypsLeft-sided tumorsMismatch repair gene mutationsAmsterdam II criteriaColorectal cancer patientsNonpolyposis colorectal cancerRepair gene mutationsMismatch repair deficiencyDetailed family historyMMR alterationsEndometrial cancerLymphocytic infiltratePathologic dataCancer patientsFamily historyAdenomatous polypsHNPCC familiesPatientsTumor DNA