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

Hum Genome Var. 2018 Apr 23:5:3. doi: 10.1038/s41439-018-0002-1. eCollection 2018.

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.

Publication types

  • Case Reports