Prevalence of somatic mutl homolog 1 promoter hypermethylation in Lynch syndrome colorectal cancer
Leticia Moreira, Jenifer Muñoz, Míriam Cuatrecasas, Isabel Quintanilla, Maria Liz Leoz, Sabela Carballal, Teresa Ocaña, María López-Cerón, Maria Pellise, Sergi Castellví-Bel, Rodrigo Jover, Montserrat Andreu, Angel Carracedo, Rosa Maria Xicola, Xavier Llor, Clement Richard Boland, Ajay Goel, Antoni Castells and Francesc Balaguer
Article first published online: 29 DEC 2014 | DOI: 10.1002/cncr.29190
Somatic mutL homolog 1 (MLH1) hypermethylation occurs in up to 15% of Lynch syndrome colorectal cancers, and a meaningful proportion of potential MLH1 mutation carriers may be undiagnosed when relying on somatic MLH1 methylation for indicating germline genetic testing. This is a novel and clinically relevant result that clearly argues against the use of MLH1 methylation analysis as a negative predictor of an MLH1 germline mutation.