A novel MLH1 intronic variant in a young Japanese patient with Lynch syndrome.

ABSTRACT: 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.

SUBMITTER: Kiyozumi Y 

PROVIDER: S-EPMC5938003 | biostudies-literature | 2018

REPOSITORIES: biostudies-literature