Whole exome sequencing of insulinoma reveals recurrent T372R mutations in YY1

Yanan Cao, Zhibo Gao, Lin Li, Xiuli Jiang, Aijing Shan, Jie Cai, Ying Peng, Yanli Li, Xiaohua Jiang, Xuanlin Huang, Jiaqian Wang, Qing Wei, Guijun Qin, Jiajun Zhao, Xiaolong Jin, Li Liu, Yingrui Li, Weiqing Wang, Jun Wang and Guang Ning ()
Additional contact information
Yanan Cao: Shanghai Clinical Center for Endocrine and Metabolic Diseases, Shanghai Key Laboratory for Endocrine Tumors, Rui-Jin Hospital, Shanghai Jiao Tong University School of Medicine
Zhibo Gao: BGI-Shenzhen
Lin Li: BGI-Shenzhen
Xiuli Jiang: Shanghai Clinical Center for Endocrine and Metabolic Diseases, Shanghai Key Laboratory for Endocrine Tumors, Rui-Jin Hospital, Shanghai Jiao Tong University School of Medicine
Aijing Shan: Shanghai Clinical Center for Endocrine and Metabolic Diseases, Shanghai Key Laboratory for Endocrine Tumors, Rui-Jin Hospital, Shanghai Jiao Tong University School of Medicine
Jie Cai: Shanghai Clinical Center for Endocrine and Metabolic Diseases, Shanghai Key Laboratory for Endocrine Tumors, Rui-Jin Hospital, Shanghai Jiao Tong University School of Medicine
Ying Peng: Shanghai Clinical Center for Endocrine and Metabolic Diseases, Shanghai Key Laboratory for Endocrine Tumors, Rui-Jin Hospital, Shanghai Jiao Tong University School of Medicine
Yanli Li: Shanghai Clinical Center for Endocrine and Metabolic Diseases, Shanghai Key Laboratory for Endocrine Tumors, Rui-Jin Hospital, Shanghai Jiao Tong University School of Medicine
Xiaohua Jiang: Shanghai Clinical Center for Endocrine and Metabolic Diseases, Shanghai Key Laboratory for Endocrine Tumors, Rui-Jin Hospital, Shanghai Jiao Tong University School of Medicine
Xuanlin Huang: BGI-Shenzhen
Jiaqian Wang: BGI-Shenzhen
Qing Wei: Rui-Jin Hospital, Shanghai Jiao Tong University School of Medicine
Guijun Qin: First Affiliated Hospital, Zhengzhou University
Jiajun Zhao: Provincial Hospital, Shandong University
Xiaolong Jin: Rui-Jin Hospital, Shanghai Jiao Tong University School of Medicine
Li Liu: BGI-Shenzhen
Yingrui Li: BGI-Shenzhen
Weiqing Wang: Shanghai Clinical Center for Endocrine and Metabolic Diseases, Shanghai Key Laboratory for Endocrine Tumors, Rui-Jin Hospital, Shanghai Jiao Tong University School of Medicine
Jun Wang: BGI-Shenzhen
Guang Ning: Shanghai Clinical Center for Endocrine and Metabolic Diseases, Shanghai Key Laboratory for Endocrine Tumors, Rui-Jin Hospital, Shanghai Jiao Tong University School of Medicine

Nature Communications, 2013, vol. 4, issue 1, 1-6

Abstract: 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.

Date: 2013
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DOI: 10.1038/ncomms3810

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