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A 39 kb structural variant causing Lynch Syndrome detected by optical genome mapping and nanopore sequencing.
Bjørnstad et al., Eur J Hum Genet 2023
DOI: 10.1038/s41431-023-01494-7
New Findings:
The study reports the first diagnosis of Lynch Syndrome (LS) caused by a structural variant using Bionano optical genome mapping and Oxford Nanopore MinION sequencing. A 39 kb insertion in the MSH2 gene was identified in two unrelated Norwegian families with histories suggestive of LS, despite negative results from standard genetic testing methods.
Importance:
This discovery is significant because it highlights a novel genetic variant associated with LS that was undetectable by traditional methods like targeted exon sequencing and MLPA. The finding also suggests a founder effect in the region, as the variant was later found in other local families.
Contribution to Literature:
The research contributes to the current literature by demonstrating the utility of advanced genomic technologies in identifying complex structural variants that contribute to hereditary diseases. It underscores the importance of considering such methods when standard genetic tests fail to confirm a diagnosis of LS, potentially improving early detection and prevention strategies for at-risk individuals.