Article
Prevalence and Consequences of APC Mosaicism in Patients With Colorectal Adenomas.
Gastroenterology - 1 May 2026
Terlouw Diantha, Suerink Manon, Buitelaar Yentl, van Leerdam Monique E, Hes Frederik J, van Egmond Demi, Ruano Dina, Wagner Anja, Groenendijk Floris H, Meijssen Isabelle C, Overwater Eline, Bajwa-Ten Broeke Sanne W, Mensenkamp Arjen R, Nagtegaal Iris D, Tops Carli M, Langers Alexandra M J, van Wezel Tom, Morreau Hans, Nielsen Maartje
Abstract excerpt
BACKGROUND & AIMS: A substantial proportion of patients with adenomatous polyposis have no germline pathogenic variant in APC. The aim of this study was to determine the prevalence of APC mosaicism in these patients with unexplained polyposis and to draft guidelines for APC mosaicism testing and surveillance. METHODS: APC mosaicism was analyzed by targeted next-generation sequencing in 541 patients with a broad...
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