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Copyright: ©Author(s) 2026. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution-NonCommercial (CC BY-NC 4.0) license. No commercial re-use. See permissions. Published by Baishideng Publishing Group Inc.
World J Gastroenterol. Oct 14, 2026; 32(38): 120596
Published online Oct 14, 2026. doi: 10.3748/wjg.120596
Adenomatous polyposis coli promoter abnormalities in familial adenomatous polyposis and gastric adenocarcinoma and proximal polyposis of the stomach
Kenichi Taguchi, Masaya Iwamuro, Xueni Liu, Chikako Shibata, Seiji Kawano, Motoyuki Otsuka
Kenichi Taguchi, Masaya Iwamuro, Xueni Liu, Seiji Kawano, Motoyuki Otsuka, Department of Gastroenterology and Hepatology, Okayama University Graduate School of Medicine, Dentistry, and Pharmaceutical Sciences, Okayama 700-8558, Japan
Chikako Shibata, Department of Gastroenterology, Graduate School of Medicine, The University of Tokyo, Tokyo 113-0033, Japan
Author contributions: Taguchi K conceived and designed the study, conducted the literature search, extracted and analyzed the data, and drafted the manuscript; Iwamuro M and Otsuka M supervised the study and contributed to data interpretation; Liu X, Shibata C, and Kawano S critically revised the manuscript for important intellectual content. All authors read and approved the final manuscript.
Supported by Japan Society for the Promotion of Science KAKENHI, No. JP25K10425 and No. JP25K22578.
Conflict-of-interest statement: All the authors report no relevant conflicts of interest for this article.
PRISMA 2009 Checklist statement: The authors have read the PRISMA 2009 Checklist, and the manuscript was prepared and revised according to the PRISMA 2009 Checklist.
Corresponding author: Masaya Iwamuro, MD, PhD, Assistant Professor, Department of Gastroenterology and Hepatology, Okayama University Graduate School of Medicine, Dentistry, and Pharmaceutical Sciences, 2-5-1 Shikata-Cho, Kita-Ku, Okayama 700-8558, Japan. pr145h2k@okayama-u.ac.jp
Received: March 3, 2026
Revised: April 18, 2026
Accepted: June 9, 2026
Published online: October 14, 2026
Processing time: 188 Days and 2.5 Hours
Core Tip

Core Tip: Abnormalities in the adenomatous polyposis coli promoter region are among the causes of familial adenomatous polyposis in patients without pathogenic variants in the coding region, as well as gastric adenocarcinoma and proximal polyposis of the stomach. In the present systematic review, the adenomatous polyposis coli promoter-region abnormalities were classified as follows: Deletions limited to promoter 1B; variants affecting the Yin Yang 1 (YY1) binding site; point variants outside the YY1 binding site; and large deletions or structural alterations encompassing the entire promoter-region. The variants affecting the YY1 binding site were further subclassified according to clinical phenotype.

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