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

7 Feb 2024

Abstract excerpt

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...

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PMID: 38356732
DOI: 10.1016/j.eclinm.2024.102465

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