Article
Delineating genotype and parent-of-origin effect on the phenotype in MSH6-associated Lynch syndrome.
Genes, chromosomes & cancer - 1 May 2024
van der Werf-'t Lam Anne-Sophie, Rodriguez-Girondo Mar, Villasmil Mandy, Tops Carli M, van Hest Liselotte, Gille Hans J P, Duijkers Floor A M, Wagner Anja, Eikenboom Ellis, Letteboer Tom G W, de Jong Mirjam M, Bajwa-Ten Broeke Sanne W, Bleeker Fonnet, Gomez Garcia Encarna B, Dominguez-Valentin Mev, Møller Pal, Suerink Manon, Nielsen Maartje
Abstract excerpt
BACKGROUND: This study investigates the potential influence of genotype and parent-of-origin effects (POE) on the clinical manifestations of Lynch syndrome (LS) within families carrying (likely) disease-causing MSH6 germline variants. PATIENTS AND METHODS: A cohort of 1615 MSH6 variant carriers (310 LS families) was analyzed. Participants were categorized based on RNA expression and parental inheritance of the...
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