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Articles Published Processes
10/20/2021 7:18:39 AM | Browse: 425 | Download: 850
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Received |
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2021-04-15 08:59 |
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Peer-Review Started |
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2021-04-15 08:59 |
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To Make the First Decision |
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Return for Revision |
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2021-05-24 03:54 |
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Revised |
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2021-05-31 14:40 |
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Second Decision |
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2021-08-11 03:25 |
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Accepted by Journal Editor-in-Chief |
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Accepted by Executive Editor-in-Chief |
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2021-08-11 08:17 |
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Articles in Press |
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2021-08-11 08:17 |
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Publication Fee Transferred |
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Edit the Manuscript by Language Editor |
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2021-09-08 02:24 |
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Typeset the Manuscript |
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2021-10-18 03:57 |
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Publish the Manuscript Online |
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2021-10-20 07:18 |
| 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) 2021. 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 |
Gastroenterology & Hepatology |
| Manuscript Type |
Basic Study |
| Article Title |
Detection and analysis of common pathogenic germline mutations of Peutz-Jeghers syndrome
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| Manuscript Source |
Unsolicited Manuscript |
| All Author List |
Guo-Li Gu, Zhi Zhang, Yu-Hui Zhang, Peng-Fei Yu, Zhi-Wei Dong, Hai-Rui Yang and Ying Yuan |
| ORCID |
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| Funding Agency and Grant Number |
| Funding Agency |
Grant Number |
| Beijing Capital Medical Development Research Fund |
Shoufa2020-2-5122 |
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| Corresponding Author |
Ying Yuan, MD, PhD, Chief Doctor, Professor, Department of Medical Oncology, Cancer Institute, The Second Affiliated Hospital, Zhejiang University School of Medicine, No. 88 Jiefang Road, Hangzhou 310009, Zhejiang Province, China. yuanying1999@zju.edu.cn |
| Key Words |
Peutz-Jeghers syndrome; Genotype; Phenotype; STK11; Mutation |
| Core Tip |
It is currently believed that Peutz-Jeghers syndrome (PJS) is an autosomal dominant genetic disease predominantly caused by germline mutations in the STK11/LKB1 gene. No exact correlation between PJS genotype and clinical phenotype has been found so far. In order to study the correlation between genotype and clinical phenotype of PJS, and explore the internal molecular mechanism of different clinical phenotypes, we collected 24 patients with different clinical phenotypes from the treated PJS cases as research objects, collected peripheral venous blood or normal tissues adjacent to polyps for high-throughput sequencing study (NGS) of 139 hereditary colorectal tumor-related genes including STK11/LKB1. In addition, the newly discovered likely pathogenic gene (SLX4) provide ideas for explaining the genetic heterogeneity of PJS. |
| Publish Date |
2021-10-20 07:18 |
| Citation |
Gu GL, Zhang Z, Zhang YH, Yu PF, Dong ZW, Yang HR, Yuan Y. Detection and analysis of common pathogenic germline mutations of Peutz-Jeghers syndrome. World J Gastroenterol 2021; 27(39): 6631-6646 |
| URL |
https://www.wjgnet.com/1007-9327/full/v27/i39/6631.htm |
| DOI |
https://dx.doi.org/10.3748/wjg.v27.i39.6631 |
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