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©The Author(s) 2026. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Gastroenterol. Jan 7, 2026; 32(1): 110043
Published online Jan 7, 2026. doi: 10.3748/wjg.v32.i1.110043
Published online Jan 7, 2026. doi: 10.3748/wjg.v32.i1.110043
Genetic differences in familial adenomatous polyposis syndrome in a Hungarian population: A prospective single center study
Tibor Tóth, Renáta Bor, Tamás Molnár, Klaudia Farkas, Anna Fábián, Zsófia Bősze, Anita Bálint, Péter Bacsur, Tamás Resál, Zoltán Szepes, Department of Internal Medicine, University of Szeged, Szent-Györgyi Albert Medical School, Szeged 6725, Csongrád-Csanád, Hungary
Dóra Nagy, Dóra Török, Marta Szell, Department of Medical Genetics, Albert Szent-Györgyi Medical School, University of Szeged, Szeged 6720, Csongrád-Csanád, Hungary
Author contributions: Szepes Z, Molnár T, Széll M contributed to the conceptualization and design of the study, supervision of patient selection; Tóth T, Farkas K and Bálint A contributed to the data collection; Széll M, Török D and Nagy D contributed to the genetic analysis; Tóth T, Bor R, Fábián A and Szepes Z contributed to the drafting of the manuscript; Széll M, Szepes Z, Bor R, and Molnár T contributed to the supervision of the study; Tóth T, Bor R and Szepes Z contributed to the statistical analysis; Tóth T, Farkas K, Nagy D, Török D, Fábián A, Bősze Z, Bálint A and Bacsur P contributed to the investigation; Tóth T, Bor R, Nagy D, Török D, Molnár T, Farkas K, Fábián A, Bősze Z, Bálint A, Bacsur P, Resál T, Szell M, Szepes Z have read and approve the final manuscript.
Supported by the Research Grants of the National Research, Development and Innovation Office, No. K125377, No. K134863 and No. K143549; New National Excellence Program of the Ministry of Human Capacities, No. UNKP-20-5-SZTE-161, No. UNKP-22-3-SZTE-233, No. UNKP-23-5-SZTE-719, No. UNKP-22-4-SZTE-296 and No. UNKP-22-3-SZTE-278; Janos Bolyai Research Grant, No. BO/00723/22; and the Géza Hetényi Research Grant by Albert Szent-Györgyi Medical School, University of Szeged.
Institutional review board statement: This study was approved by the National Public Health Centre Institutional Committee of Science and Research Ethics (No. 5503-5/2018/EÜIG). This study was performed in accordance with the ethical principles stated in the Declaration of Helsinki.
Clinical trial registration statement: This study was not registered.
Informed consent statement: All patients in the prospective data collection consented to the publication of their anonymized data.
Conflict-of-interest statement: The authors declare that they have no conflict of interest.
CONSORT 2010 statement: The authors have read the CONSORT 2010 Statement, and the manuscript was prepared and revised according to the CONSORT 2010 Statement.
Data sharing statement: The datasets generated for this study are available on request from the corresponding authors.
Open Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: https://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Zoltán Szepes, MD, Doctor, Department of Internal Medicine, University of Szeged, Szent-Györgyi Albert Medical School, Korányi fasor 8-10, Szeged 6725, Csongrád-Csanád, Hungary. szepes.zoltan@med.u-szeged.hu
Received: May 29, 2025
Revised: July 11, 2025
Accepted: November 20, 2025
Published online: January 7, 2026
Processing time: 221 Days and 8.1 Hours
Revised: July 11, 2025
Accepted: November 20, 2025
Published online: January 7, 2026
Processing time: 221 Days and 8.1 Hours
Core Tip
Core Tip: This prospective single-center study assessing the mutation profile of 26 Hungarian patients with clinically suspected familial adenomatous polyposis (FAP) or attenuated FAP confirmed APC gene mutations in over 90% of cases, confirming its critical role in FAP development. Variants of uncertain significance, particularly in POLE and PIEZO1, were also frequently detected and may contribute to colorectal cancer risk, though their clinical relevance remains unclear, hi