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Recurrent APC Splice Variant c.835-8A>G in Patients With Unexplained Colorectal Polyposis Fulfilling the Colibactin Mutational Signature2020 Gastroenterology article Medicine Genetic factors in colorectal cancer Open access cited by 1 patent
Diantha Terlouw, Manon Suerink, Arnoud Boot, Tom van Wezel, Maartje Nielsen, Hans M. Morreau
40citations -
Germline loss-of-function variants in the base-excision repair gene MBD4 cause a Mendelian recessive syndrome of adenomatous colorectal polyposis and acute myeloid leukaemia2021 bioRxiv (Cold Spring Harbor Laboratory) preprint Medicine Genetic factors in colorectal cancer Open access
Claire Palles, Edward Chew, Judith E. Grolleman, Sara Galavotti, Christoffer Flensburg, Erik A. M. Jansen, +53 more
3citations -
Mismatch repair gene specifications to the ACMG/AMP classification criteria: Consensus recommendations from the InSiGHT ClinGen Hereditary Colorectal Cancer / Polyposis Variant Curation Expert Panel
John‐Paul Plazzer, Finlay Macrae, Xiaoyu Yin, Bryony A. Thompson, Susan Mary Farrington, Lauren B. Currie, +29 more
7citations -
Updated European guidelines for clinical management of familial adenomatous polyposis (FAP), MUTYH-associated polyposis (MAP), gastric adenocarcinoma, proximal polyposis of the stomach (GAPPS) and other rare adenomatous polyposis syndromes: a joint EHTG-ESCP revision
G Zaffaroni, Alessandro Mannucci, Laura E. Koskenvuo, F. Borja de Lacy, Anna Maffioli, Tanya M. Bisseling, +32 more
107citations -
Risk of Cancer and Reoperation After Ileorectal Anastomosis and Ileal Pouch-Anal Anastomosis in Familial Adenomatous Polyposis2024 The American Journal of Gastroenterology article Medicine Genetic factors in colorectal cancer Open access
Hicham Bouchiba, Arthur S. Aelvoet, María Pellisé, Barbara A.J. Bastiaansen, Monique Esther van Leerdam, Alexandra M. J. Langers, +11 more
9citations -
Microbial Invasion and Immunosuppression Drives Adenoma Progression in Early Colorectal Cancer Development2026 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Gut microbiota and health Open access
Wei Liang, Lisa Falk, Daniele Lucarelli, Philipp Putze, Amira Metwaly, Yiran Zheng, +13 more
0citations -
Disease expression in juvenile polyposis syndrome: a retrospective survey on a cohort of 221 European patients and comparison with a literature-derived cohort of 473 SMAD4/BMPR1A pathogenic variant carriers
Robert H. E. Blatter, Benjamin Tschupp, Stefan Aretz, Inge Bernstein, Chrystelle Colas, D. Gareth Evans, +12 more
77citations