| ISSN |
1007-9327 (print) and 2219-2840 (online) |
| Open Access |
This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (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) 2015. Published by Baishideng Publishing Group Inc. All rights reserved. |
| Article Reprints |
For details, please visit: http://www.wjgnet.com/bpg/gerinfo/247
|
| 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 |
| Category |
Genetics & Heredity |
| Manuscript Type |
Basic Study |
| Article Title |
Candidate colorectal cancer predisposing gene variants in Chinese early-onset and familial cases
|
| Manuscript Source |
Unsolicited Manuscript |
| All Author List |
Jun-Xiao Zhang, Lei Fu, Richarda M de Voer, Marc-Manuel Hahn, Peng Jin, Chen-Xi Lv, Eugène TP Verwiel, Marjolijn JL Ligtenberg, Nicoline Hoogerbrugge, Roland P Kuiper, Jian-Qiu Sheng and Ad Geurts van Kessel |
| Funding Agency and Grant Number |
| Funding Agency |
Grant Number |
| Dutch Cancer Society(KWF) |
KUN-4335 |
| Netherlands Organization for Scientific Research (NWO) |
91710358 |
| Royal Dutch Academy of Sciences (KNAW) |
|
| National Natural Science Foundation of China (NSFC) |
81272194 |
| National Natural Science Foundation of China (NSFC) |
81072041 |
| China Scholarship Council (CSC) |
to Zhang JX |
|
| Corresponding Author |
Jian-Qiu Sheng, Professor, Department of Gastroenterology, General Hospital of Beijing Military Region, 5 Nanmenchang, Dongcheng, Beijing 100700, China. jianqiu@263.net |
| Key Words |
Colorectal cancer; Cancer predisposition; Early-onset; Germline variants; Exome sequencing |
| Core Tip |
Mendelian colorectal cancer (CRC) predis?position syndromes underlie about 5% of all CRCs, and are caused by germline mutations in a limited set of genes. The overall heritability of CRC, however, is estimated to be approximately 30% and as yet many families at risk remain unexplained. This research identifies seven mutations of known CRC predisposing genes (MLH1, MSH2 and MUTYH) in 6 of the 21 families (29%), five of which were previously reported as pathogenic. One unreported variant EIF2AK4 (p.Glu738_Asp739insArgArg) located at conserved region was found to represent a local Chinese variant and significantly enriched in our early-onset CRC patient cohort. |
| Publish Date |
2015-04-15 11:01 |
| Citation |
Zhang JX, Fu L, de Voer RM, Hahn MM, Jin P, Lv CX, Verwiel ET, Ligtenberg MJ, Hoogerbrugge N, Kuiper RP, Sheng JQ, Geurts van Kessel A. Candidate colorectal cancer predisposing gene variants in Chinese early-onset and familial cases. World J Gastroenterol 2015; 21(14): 4136-4149 |
| URL |
http://www.wjgnet.com/1007-9327/full/v21/i14/4136.htm |
| DOI |
http://dx.doi.org/10.3748/wjg.v21.i14.4136 |
