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

Human Genome Variation
Yoshimi KiyozumiKen Yamaguchi

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.

References

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