| Category |
Gastroenterology & Hepatology |
| Manuscript Type |
Prospective Study |
| Article Title |
Genetic differences in familial adenomatous polyposis syndrome in a Hungarian population: A prospective single center study
|
| Manuscript Source |
Invited Manuscript |
| All Author List |
Tibor Tóth, Renáta Bor, Dóra Nagy, Dóra Török, Tamás Molnár, Klaudia Farkas, Anna Fábián, Zsófia Bősze, Anita Bálint, Péter Bacsur, Tamás Resál, Marta Szell and Zoltán Szepes |
| Funding Agency and Grant Number |
| Funding Agency |
Grant Number |
| Research Grants of the National Research, Development and Innovation Office |
No. K125377 |
| Research Grants of the National Research, Development and Innovation Office |
No. K134863 |
| Research Grants of the National Research, Development and Innovation Office |
No. K143549 |
| New National Excellence Program of the Ministry of Human Capacities |
No. UNKP-20-5-SZTE-161 |
| New National Excellence Program of the Ministry of Human Capacities |
No. UNKP-22-3-SZTE-233 |
| New National Excellence Program of the Ministry of Human Capacities |
No. UNKP-23-5-SZTE-719 |
| New National Excellence Program of the Ministry of Human Capacities |
No. UNKP-22-4-SZTE-296 |
| New National Excellence Program of the Ministry of Human Capacities |
No. UNKP-22-3-SZTE-278 |
| Janos Bolyai Research Grant |
No. BO/00723/22 |
| Géza Hetényi Research Grant by Albert Szent-Györgyi Medical School, University of Szeged |
|
|
| Corresponding Author |
Zoltán Szepes, 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 |
| Key Words |
Polyposis syndrome; Genomics; Familial adenomatous polyposis; Genetic testing; APC; Germline mutation; Colorectal cancer |
| 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, highlighting the need for further research and genotype-phenotype correlation. |
| Citation |
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. Genetic differences in familial adenomatous polyposis syndrome in a Hungarian population: A prospective single center study. World J Gastroenterol 2025; In press |
| ISSN |
1007-9327 (print) and 2219-2840 (online) |
| 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/ |
| Copyright |
© The Author(s) 2024. Published by Baishideng Publishing Group Inc. All rights reserved. |
| Permissions |
For details, please visit: http://www.wjgnet.com/bpg/gerinfo/207
|
| Publisher |
Baishideng Publishing Group Inc, 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA |
| Website |
http://www.wjgnet.com |
