A 39 kb structural variant causing Lynch Syndrome detected by optical genome mapping and nanopore sequencing.

ABSTRACT: Lynch Syndrome (LS) is a hereditary cancer syndrome caused by pathogenic germline variants in one of the four mismatch repair (MMR) genes MLH1, MSH2, MSH6 and PMS2. It is characterized by a significantly increased risk of multiple cancer types, particularly colorectal and endometrial cancer, with autosomal dominant inheritance. Access to precise and sensitive methods for genetic testing is important, as early detection and prevention of cancer is possible when the variant is known. We present here two unrelated Norwegian families with family histories strongly suggestive of LS, where immunohistochemical and microsatellite instability analyses indicated presence of a pathogenic variant in MSH2, but targeted exon sequencing and multiplex ligation-dependent probe amplification (MLPA) were neg

SUBMITTER: Bjornstad PM 

PROVIDER: S-EPMC11061271 | biostudies-literature | 2024 May

REPOSITORIES: biostudies-literature