| 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: http://creativecommons.org/Licenses/by-nc/4.0/ |
| Copyright |
© The Author(s) 2025. Published by Baishideng Publishing Group Inc. All rights reserved. |
| Article Reprints |
For details, please visit: http://www.wjgnet.com/bpg/gerinfo/247
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| Permissions |
For details, please visit: http://www.wjgnet.com/bpg/gerinfo/207
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| Publisher |
Baishideng Publishing Group Inc, 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA |
| Website |
http://www.wjgnet.com |
| Category |
Genetics & Heredity |
| Manuscript Type |
Basic Study |
| Article Title |
Whole-exome sequencing identifies new pathogenic germline variants in patients with colorectal polyposis
|
| Manuscript Source |
Unsolicited Manuscript |
| All Author List |
Wellington dos Santos, Ariane S Pereira, Thais Laureano, Edilene S de Andrade, Monise T Reis, Felipe AO Garcia, Natalia Campacci, Matias E Melendez, Rui M Reis, Henrique de CR Galvão and Edenir I Palmero |
| ORCID |
|
| Funding Agency and Grant Number |
| Funding Agency |
Grant Number |
| National Oncology Care Support Program |
No. 25000.056766/2015-64 |
|
| Corresponding Author |
Edenir I Palmero, PhD, Molecular Oncology Research Center, Barretos Cancer Hospital, Antenor Duarte Viléla, 1331, Barretos 14784-400, Brazil. edenirip@yahoo.com.br |
| Key Words |
Polyposis; colorectal cancer; Hereditary colorectal cancer; Familial adenomatous polyposis; Exome sequencing; Polyposis predisposition genes |
| Core Tip |
Adenomatous polyposis confers an increased risk of developing colorectal cancer, with the APC and MUTYH genes being the major genes involved in these cases. Other genes have been recently associated with polyposis phenotypes, conferring a heterogeneous aspect on clinical, etiological, and heritable aspects of patients with polyposis. Here, by whole exome sequencing, we investigated genes potentially related to polyposis in patients without variants in APC and MUTYH genes. The study identified 16 novel genes potentially associated with polyposis, supporting the screening by next-generation sequencing, and expanding beyond the scope of these two genes. |
| Publish Date |
2025-08-05 08:25 |
| Citation |
<p>dos Santos W, Pereira AS, Laureano T, de Andrade ES, Reis MT, Garcia FA, Campacci N, Melendez ME, Reis RM, Galvão HC, Palmero EI. Whole-exome sequencing identifies new pathogenic germline variants in patients with colorectal polyposis. <i>World J Gastroenterol</i> 2025; 31(29): 104830</p> |
| URL |
https://www.wjgnet.com/1007-9327/full/v31/i29/104830.htm |
| DOI |
https://dx.doi.org/10.3748/wjg.v31.i29.104830 |
