A 39 kb Structural Variant Causing Lynch Syndrome Detected by Optical Genome Mapping and Nanopore Sequencing

Medicine, Oncology, Life Sciences, Genetics,
Lynch syndrome   optical genome mapping   nanopore sequencing   structural variant   hereditary cancer   mismatch repair genes   founder event  

Detection of a 39 kb structural variant causing Lynch syndrome using optical genome mapping and nanopore sequencing Research Background Lynch syndrome (LS) is a hereditary cancer syndrome primarily caused by pathogenic germline variants in four genes of the MMR (mismatch repair) gene family: MLH1, MSH2, MSH6, and PMS2. This syndrome is characterize...