PMS2 c.2117del (p.Lys706Serfs*19) is the Most Frequent Cancer-Associated Founder Pathogenic Variant in the French-Canadian Population of Quebec, Canada.

doi:10.1111/cge.14784

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PMS2 c.2117del (p.Lys706Serfs*19) is the Most Frequent Cancer-Associated Founder Pathogenic Variant in the French-Canadian Population of Quebec, Canada.

Clinical genetics - 1 Dec 2025

Chong Anne-Laure, Mejia-Garcia Alejandro, Behl Supriya, El Haffaf Zaki, Chénier Sébastien, Maranda Bruno, Désilets Valérie, Lévesque Sébastien, Castonguay Lysanne, Mes-Masson Anne-Marie, Giroux Sylvie, Rousseau François, Hamel Nancy, Chong George, Gravel Simon, Foulkes William D

Abstract excerpt

We identified a PMS2 variant (NM_000535.7:c.2117del, p.Lys706Serfs*19) in 22 French-Canadian (FC) families from Quebec with Lynch syndrome (LS; n = 21) or constitutional mismatch repair deficiency (CMMRD; n = 1). We aimed to (a) confirm its founder origin, (b) assess its allele frequency in the FC population, and (c) determine its contribution to the risk of developing various cancers in this population. We...

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PMID: 40546006
DOI: 10.1111/cge.14784
PMCID: PMC12580481

Genes

PMS2

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