Article

Characterisation of a Portuguese origin founder missense variant in MSH6

2026-04-21

Abstract excerpt

<title>Abstract</title> <p> In certain populations, founder pathogenic variants are a common cause of Lynch syndrome. Here, we report the identification of a novel founder variant, NM_000179.3 (MSH6):c.2061T > G (p.Cys687Trp). Our study examined 14 probands and 18 additional family members who carry this variant. With one exception, haplotype data are consistent with a single origin for all heterozygotes. We inv...

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Literature Corpus work: 8393a497-1238-5f87-a168-179d04c32744
DOI: 10.21203/rs.3.rs-9172566/v1

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