Article

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

2023-07-13

Abstract excerpt

<title>Abstract</title> <p>Lynch Syndrome (LS) is a hereditary cancer syndrome caused by pathogenic germline variants in one of the four mismatch repair (MMR) genes <italic>MLH1</italic>, <italic>MSH2</italic>, <italic>MSH6</italic> and <italic>PMS2</italic>. It is characterized by a significantly increased risk of multiple cancer types, particularly colorectal and endometrial cancer, with autosomal dominant inhe...

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Literature Corpus work: c317d534-6b73-50f8-a6b8-1979dcfc6eb2
DOI: 10.21203/rs.3.rs-3136870/v1

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