Gut
Comparison between germline and somatic loss-of-function RNF43 mutations reveals different genotype-phenotype associations and provides insights into the genetic mechanisms of colorectal tumourigenesis.
Claire Palles, Luke Freeman-Mills, Edward Arbe-Barnes, Nathalie Feeley, Laura Chegwidden, Helen Curley, Sara Galavotti, Connor Woolley, Jeremy Cheadle, Dmitri Mouradov, Oliver Sieber, Silvia Salatino, Steve Thorn, Anshita Goel, Juan Fernandez-Tajes
Published: 202510.1136/gutjnl-2025-337030
Abstract
BACKGROUND: Germline RNF43 mutations cause a dominantly inherited syndrome of colorectal cancer (CRC) and serrated polyps. However, these data originate from highly selected families. OBJECTIVE: We assessed germline RNF43 variants in patients more re…
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