Work

Novel MLH1 nonsense variant in a patient with suspected Lynch syndrome

Year: 2024

Type: article

Abstract: Loss-of-function germline variants of MLH1 cause Lynch syndrome. Here, we present the case of a 43-year-old male patient diagnosed with cecal and transverse colon adenocarcinomas. The characteristics of the case met the revised Bethesda guidelines, and the tumors demonstrated a high frequency of microsatellite instability. Genetic testing for mismatch repair genes (indicative of Lynch syndrome) revealed a novel heterozygous germline pathogenic variant, NM_000249.4:c.856A>T/NP_000240.1:p.(Lys286Ter), in MLH1.

Source: Human Genome Variation

DOI: 10.1038/s41439-024-00294-9

Authors: Nobue Takaiso, Issei Imoto, Toshihiko Matsumoto, Akiyo Yoshimura

Institutions: Aichi Cancer Center, Ichinomiyanishi Hospital

Language: English

Topic: Genetic factors in colorectal cancer

Subfield: Pathology and Forensic Medicine

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $3,090