Whole exome sequencing of insulinoma reveals recurrent T372R mutations in YY1

Cao, Yanan, Gao, Zhibo, Li, Lin, Jiang, Xiuli, Shan, Aijing, Cai, Jie, Peng, Ying, Li, Yanli, Jiang, Xiaohua, Huang, Xuanlin, Wang, Jiaqian, Wei, Qing, Qin, Guijun, Zhao, Jiajun, Jin, Xiaolong, Liu, Li, Li, Yingrui, Wang, Weiqing, Wang, Jun and Ning, Guang (2013) Whole exome sequencing of insulinoma reveals recurrent T372R mutations in YY1. Nature Communications, 4 1-6. doi:10.1038/ncomms3810

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Author Cao, Yanan
Gao, Zhibo
Li, Lin
Jiang, Xiuli
Shan, Aijing
Cai, Jie
Peng, Ying
Li, Yanli
Jiang, Xiaohua
Huang, Xuanlin
Wang, Jiaqian
Wei, Qing
Qin, Guijun
Zhao, Jiajun
Jin, Xiaolong
Liu, Li
Li, Yingrui
Wang, Weiqing
Wang, Jun
Ning, Guang
Title Whole exome sequencing of insulinoma reveals recurrent T372R mutations in YY1
Journal name Nature Communications   Check publisher's open access policy
ISSN 2041-1723
Publication date 2013-12-10
Sub-type Article (original research)
DOI 10.1038/ncomms3810
Open Access Status File (Publisher version)
Volume 4
Start page 1
End page 6
Total pages 6
Place of publication London, United Kingdom
Publisher Nature Publishing Group
Language eng
Abstract Functional pancreatic neuroendocrine tumours (PNETs) are mainly represented by insulinoma, which secrete insulin independent of glucose and cause hypoglycaemia. The major genetic alterations in sporadic insulinomas are still unknown. Here we identify recurrent somatic T372R mutations in YY1 by whole exome sequencing of 10 sporadic insulinomas. Further screening in 103 additional insulinomas reveals this hotspot mutation in 30% (34/113) of all tumours. T372R mutation alters the expression of YY1 target genes in insulinomas. Clinically, the T372R mutation is associated with the later onset of tumours. Genotyping of YY1, a target of mTOR inhibitors, may contribute to medical treatment of insulinomas. Our findings highlight the importance of YY1 in pancreatic β-cells and may provide therapeutic targets for PNETs.
Q-Index Code C1
Q-Index Status Provisional Code
Institutional Status Unknown

Document type: Journal Article
Sub-type: Article (original research)
Collection: Institute for Molecular Bioscience - Publications
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Citation counts: TR Web of Science Citation Count  Cited 49 times in Thomson Reuters Web of Science Article | Citations
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