Case report
Open access
Jul 2026
Lynch syndrome caused by a pathogenic SINE-VNTR-Alu (SVA) insertion in MSH2 gene identified by long-read DNA sequencing
It is demonstrated that long-read sequencing can identify structural variants that are missed by current short-read sequencing multi-gene panel testing, improving the diagnosis of Lynch syndrome.
Jihoon E. Joo, Khalid Mahmood, M. Clendenning et al.
· Familial Cancer · 0 citations