Prevalence of MLH1 constitutional epimutations as a cause of Lynch syndrome in unselected versus selected consecutive series of patients with colorectal cancer

BackgroundThe prevalence of MLH1 constitutional epimutations in the general population is unknown. We sought to analyse the prevalence of MLH1 constitutional epimutations in unselected and selected series of patients with colorectal cancer (CRC).MethodsPatients with diagnoses of CRC (n=2123) were in...

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Veröffentlicht in:	Journal of medical genetics 2015-07, Vol.52 (7), p.498-502
Hauptverfasser:	Castillejo, Adela, Hernández-Illán, Eva, Rodriguez-Soler, María, Pérez-Carbonell, Lucía, Egoavil, Cecilia, Barberá, Victor M, Castillejo, María-Isabel, Guarinos, Carla, Martínez-de-Dueñas, Eduardo, Juan, María-Jose, Sánchez-Heras, Ana-Beatriz, García-Casado, Zaida, Ruiz-Ponte, Clara, Brea-Fernández, Alejandro, Juárez, Miriam, Bujanda, Luis, Clofent, Juan, Llor, Xavier, Andreu, Montserrat, Castells, Antoni, Carracedo, Angel, Alenda, Cristina, Payá, Artemio, Jover, Rodrigo, Soto, José-Luis
Format:	Artikel
Sprache:	eng
Schlagworte:	Adaptor Proteins, Signal Transducing - genetics Base Sequence Colorectal cancer Colorectal Neoplasms, Hereditary Nonpolyposis - epidemiology Colorectal Neoplasms, Hereditary Nonpolyposis - genetics DNA methylation DNA Methylation - genetics DNA Mismatch Repair - genetics Epigenesis, Genetic - genetics Genetic Testing - standards Humans Microsatellite Repeats - genetics Molecular Sequence Data Mutation Mutation - genetics MutL Protein Homolog 1 Nuclear Proteins - genetics Prevalence Promoter Regions, Genetic - genetics Sequence Analysis, DNA Statistics, Nonparametric Tumors
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