| 8 | Wnt genes in colonic polyposis predisposition显示文摘Much of the genetic predisposition to polyposis,and particularly to serrated polyposis(SP),remains unknown.Only germline pathogenic variants in RNF43,a tumor suppressor that exerts negative feedback in the Wnt/β-catenin signaling pathway,have been causally linked to some SP cases(<2%),a disease associated with increased risk of colorectal cancer(CRC).^(1) Most known hereditary CRC and polyposis genes affect DNA repair,BMP/TGF-β,or Wnt signaling,being the latter associated with adenomatous and serrated polyposis phenotypes.2 Based on this observation,we evaluated the presence and role of germline variants in those pathways in unsolved polyposis patients. | Isabel Quintana Mariona Terradas Pilar Mur Iris B.A.Wte Paske Sophia Peters Isabel Spier Verena Steinke-Lange Claudia Maestro David Torrents Montserrat Puiggròs Romina Royo Raul Tonda Genís Parra Davide Piscia Sergi Beltrán Matilde Navarro Virginia Piñol Joan Brunet Noemi Gonzalez-Abuin Gemma Aiza Anna Sommer Yasmijn van Herwaarden Galuh Astuti Elke Holinski-Feder Nicoline Hoogerbrugge Richarda Mde Voer Stefan Aretz Gabriel Capellá Laura Valle | 2023 | Genes & Diseases2023，10，3： | 0 |
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