Risk of Cancer in Cases of Suspected Lynch Syndrome Without Germline Mutation
Rodríguez–Soler M, Pérez–Carbonell L, Guarinos C, Zapater P, Castillejo A, Barberá VM, Juárez M, Bessa X, Xicola RM, Clofent J, Bujanda L, Balaguer F, Reñé J, de–Castro L, Marín–Gabriel J, Lanas A, Cubiella J, Nicolás–Pérez D, Brea–Fernández A, Castellví–Bel S, Alenda C, Ruiz–Ponte C, Carracedo A, Castells A, Andreu M, Llor X, Soto JL, Payá A, Jover R. Risk of Cancer in Cases of Suspected Lynch Syndrome Without Germline Mutation. Gastroenterology 2013, 144: 926-932.e1. PMID: 23354017, DOI: 10.1053/j.gastro.2013.01.044.Peer-Reviewed Original ResearchMeSH KeywordsAdaptor Proteins, Signal TransducingAdultAgedAged, 80 and overColorectal Neoplasms, Hereditary NonpolyposisDNA Mismatch RepairDNA RepairDNA, NeoplasmFemaleGerm-Line MutationHumansImmunohistochemistryIncidenceMaleMicrosatellite InstabilityMiddle AgedMutL Protein Homolog 1Nuclear ProteinsPopulation SurveillanceRisk FactorsSpainConceptsLynch-like syndromeSex-adjusted standardized incidence ratiosFamilies of patientsRisk of cancerIncidence of CRCLynch syndromePathogenic germline mutationsMicrosatellite instabilityGermline mutationsSporadic CRCStandardized incidence ratiosLoss of PMS2Population-based cohortMLH1 promoter hypermethylationLoss of MLH1Loss of MSH2Clinical characteristicsConsecutive patientsIncidence ratiosMSH6 expressionImmunohistochemical analysisPatientsMLH1 promoterSyndromeSurveillance strategies