TY - JOUR AU - Dámaso, Estela AU - Castillejo, Adela AU - Arias, María Del Mar AU - Canet-Hermida, Julia AU - Navarro, Matilde AU - Del Valle, Jesús AU - Campos, Olga AU - Fernández, Anna AU - Marín, Fátima AU - Turchetti, Daniela AU - García-Díaz, Juan de Dios AU - Lázaro, Conxi AU - Genuardi, Maurizio AU - Rueda, Daniel AU - Alonso, Ángel AU - Soto, Jose Luis AU - Hitchins, Megan AU - Pineda, Marta AU - Capellá, Gabriel PY - 2018 DO - 10.1038/s41416-018-0019-8 UR - https://hdl.handle.net/10668/25384 T2 - British journal of cancer AB - Constitutional MLH1 epimutations are characterised by monoallelic methylation of the MLH1 promoter throughout normal tissues, accompanied by allele-specific silencing. The mechanism underlying primary MLH1 epimutations is currently unknown. The aim of... LA - en KW - Base Sequence KW - Colorectal Neoplasms KW - Colorectal Neoplasms, Hereditary Nonpolyposis KW - CpG Islands KW - DNA Methylation KW - Epigenesis, Genetic KW - Female KW - Genetic Predisposition to Disease KW - Haplotypes KW - Humans KW - Male KW - MutL Protein Homolog 1 KW - Mutation KW - Promoter Regions, Genetic KW - Sequence Analysis, DNA TI - Primary constitutional MLH1 epimutations: a focal epigenetic event. TY - research article VL - 119 ER -