Anne-Sophie van der Werf-'t Lam, Mar Rodriguez-Girondo, Mandy Villasmil, Carli M Tops, Liselotte van Hest, Hans J P Gille, Floor A M Duijkers, Anja Wagner, Ellis Eikenboom, Tom G W Letteboer, Mirjam M de Jong, Sanne W Bajwa-Ten Broeke, Fonnet Bleeker, Encarna B Gomez Garcia, Mev Dominguez-Valentin, Pal Møller, Manon Suerink, Maartje Nielsen
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 variant. Hazard ratios (HRs) were calculated using weighted Cox regression, considering external information to address ascertainment bias...
May 2024: Genes, Chromosomes & Cancer