%0 Journal Article
%T A novel MLH1 intronic variant in a young Japanese patient with Lynch syndrome
%J -
%D 2018
%R https://doi.org/10.1038/s41439-018-0002-1
%X Lynch syndrome, an autosomal dominantly inherited disease, is characterized by an increased risk of developing colorectal cancer. We found a novel germline variant of MLH1 (IVS6+2T>C) that caused Lynch syndrome in a young Japanese patient who had multiple colorectal cancers. Accurate diagnosis will be highly beneficial in clinical practice for surveillance and genetic counseling of patients and their relatives
%U https://www.nature.com/articles/s41439-018-0002-1