Authors
María Rodríguez–Soler, Lucía Pérez–Carbonell, Carla Guarinos, Pedro Zapater, Adela Castillejo, Victor M Barberá, Miriam Juárez, Xavier Bessa, Rosa M Xicola, Juan Clofent, Luis Bujanda, Francesc Balaguer, Josep–Maria Reñé, Luisa de–Castro, José C Marín–Gabriel, Angel Lanas, Joaquín Cubiella, David Nicolás–Pérez, Alejandro Brea–Fernández, Sergi Castellví–Bel, Cristina Alenda, Clara Ruiz–Ponte, Angel Carracedo, Antoni Castells, Montserrat Andreu, Xavier Llor, José L Soto, Artemio Payá, Rodrigo Jover
Publication date
2013/5/1
Journal
Gastroenterology
Volume
144
Issue
5
Pages
926-932. e1
Publisher
WB Saunders
Description
BACKGROUND & AIMS
Colorectal cancers (CRCs) with microsatellite instability (MSI) and a mismatch repair (MMR) immunohistochemical deficit without hypermethylation of the MLH1 promoter are likely to be caused by Lynch syndrome. Some patients with these cancers have not been found to have pathogenic germline mutations and are considered to have Lynch-like syndrome (LLS). The aim of this study was to determine the risk of cancer in families of patients with LLS.
METHODS
We studied a population-based cohort of 1705 consecutive patients, performing MSI tests and immunohistochemical analyses of MMR proteins. Patients were diagnosed with Lynch syndrome when they were found to have pathogenic germline mutations. Patients with MSI and loss of MSH2 and/or MSH6 expression, isolated loss of PMS2 or loss of MLH1 without MLH1 promoter hypermethylation, and no pathogenic mutation were …
Scholar articles
M Rodríguez–Soler, L Pérez–Carbonell, C Guarinos… - Gastroenterology, 2013