Comparison between universal molecular screening for Lynch syndrome and revised Bethesda guidelines in a large population-based cohort of patients with colorectal cancer
Pérez-Carbonell L, Ruiz-Ponte C, Guarinos C, Alenda C, Payá A, Brea A, Egoavil CM, Castillejo A, Barberá VM, Bessa X, Xicola RM, Rodríguez-Soler M, Sánchez-Fortún C, Acame N, Castellví-Bel S, Piñol V, Balaguer F, Bujanda L, De-Castro ML, Llor X, Andreu M, Carracedo A, Soto JL, Castells A, Jover R. Comparison between universal molecular screening for Lynch syndrome and revised Bethesda guidelines in a large population-based cohort of patients with colorectal cancer. Gut 2011, 61: 865. PMID: 21868491, DOI: 10.1136/gutjnl-2011-300041.Peer-Reviewed Original ResearchMeSH KeywordsAdaptor Proteins, Signal TransducingAdultAgedAged, 80 and overColorectal NeoplasmsColorectal Neoplasms, Hereditary NonpolyposisDNA MethylationDNA Mismatch RepairFemaleGenetic Carrier ScreeningGenetic TestingGerm-Line MutationHumansImmunohistochemistryMaleMicrosatellite InstabilityMiddle AgedMutL Protein Homolog 1MutS Homolog 2 ProteinNuclear ProteinsPractice Guidelines as TopicConceptsColorectal cancerLynch syndromeBethesda criteriaGenetic testingBethesda guidelinesMSH6 expressionLarge population-based cohortSelection of patientsPopulation-based cohortMMR proteinsMMR gene mutationsMMR protein expressionLoss of MLH1Microsatellite instability analysisGermline MLH1Routine molecular screeningLoss of expressionMutation carriersMSH2 stainingPatientsMSH2 mutationsLarge seriesMSI tumorsPMS2 expressionTumor tissueValidation Microsatellite Path Score in a Population-Based Cohort of Patients With Colorectal Cancer
Bessa X, Alenda C, Paya A, Álvarez C, Iglesias M, Seoane A, Dedeu JM, Abulí A, Ilzarbe L, Navarro G, Pellise M, Balaguer F, Castellvi-Bel S, LLor X, Castells A, Jover R, Andreu M. Validation Microsatellite Path Score in a Population-Based Cohort of Patients With Colorectal Cancer. Journal Of Clinical Oncology 2011, 29: 3374-3380. PMID: 21788563, DOI: 10.1200/jco.2010.34.3947.Peer-Reviewed Original ResearchMeSH KeywordsAdaptor Proteins, Signal TransducingAdenocarcinomaAdenocarcinoma, MucinousAgedCarcinoma, MedullaryCarcinoma, Signet Ring CellCohort StudiesColorectal NeoplasmsDNA Mismatch RepairFemaleFollow-Up StudiesGerm-Line MutationHeterozygoteHumansMaleMicrosatellite InstabilityMutL Protein Homolog 1MutS Homolog 2 ProteinNuclear ProteinsPrognosisProspective StudiesProto-Oncogene Proteins B-rafSensitivity and SpecificitySpainConceptsPositive predictive valuePathologic featuresColorectal cancerLynch syndromeGermline MSH2 mutationMLH1/MSH2Cohort of patientsColorectal cancer populationSelection of patientsPopulation-based cohortBRAF mutation analysisMicrosatellite instability analysisHigher CRCGermline testingBethesda guidelinesTumor characteristicsPathological scoresTumor locationCancer populationMismatch repairMMR statusFamily historyMutation carriersPatientsMSH2 mutations