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Article

Estimating cancer risk in carriers of Lynch syndrome variants in UK Biobank.

Journal of medical genetics - 29 Aug 2024

Fummey Eilidh, Navarro Pau, Plazzer John-Paul, Frayling Ian M, Knott Sara, Tenesa Albert

Abstract excerpt

BackgroundLynch syndrome (LS) is an inherited cancer predisposition syndrome caused by genetic variants affecting DNA mismatch repair (MMR) genes MLH1, MSH2, MSH6 and PMS2 Cancer risk in LS is estimated from cohorts of individuals ascertained by individual or family history of cancer, which may upwardly bias estimates. METHODS: 830 carriers of pathogenic or likely pathogenic (path_MMR) MMR gene variants...

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Source

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Identifiers

PMID: 39004446
DOI: 10.1136/jmg-2023-109791
PMCID: PMC11420727

Genes

MLH1
MSH2
MSH6
PMS2

Provenance

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