The comprehensive English National Lynch Syndrome Registry: development and description of a new genomics data resource.

ABSTRACT:

Background

Lynch Syndrome (LS) is a cancer predisposition syndrome caused by constitutional pathogenic variants in the mismatch repair (MMR) genes. To date, fragmentation of clinical and genomic data has restricted understanding of national LS ascertainment and outcomes, and precluded evaluation of NICE guidance on testing and management. To address this, via collaboration between researchers, the National Disease Registration Service (NDRS), NHS Genomic Medicine Service Alliances (GMSAs), and NHS Regional Clinical Genetics Services, a comprehensive registry of LS carriers in England has been established.

Methods

For comprehensive ascertainment of retrospectively identified MMR pathogenic variant (PV) carriers (diagnosed prior to January 1, 2023), information was retrieved f

SUBMITTER: Huntley C 

PROVIDER: S-EPMC10864212 | biostudies-literature | 2024 Mar

REPOSITORIES: biostudies-literature