Exome sequencing on malignant meningiomas identified mutations in neurofibromatosis type 2 (NF2) and meningioma 1 (MN1) genes.

作者: Chengliang Dong , Jinghui Hou , Zheng Wang , Xu Zhang , Haiying Jia

DOI:

关键词:

摘要: Background Meningiomas are tumors originating from the membranous layers surrounding central nervous system, and generally regarded as “benign” of brain. Malignant meningiomas rare typically associated with a higher risk local tumor recurrence poorer prognosis (median survival time <2 years). Previous genome-wide association studies exome sequencing have identified genes that play role in susceptibility to meningiomas, but these did not focus specifically on malignant tumors.

参考文章(44)
Arie Perry, Bernd W. Scheithauer, Scott L. Stafford, Christine M. Lohse, Peter C. Wollan, "Malignancy" in meningiomas: a clinicopathologic study of 116 patients, with grading implications. Cancer. ,vol. 85, pp. 2046- 2056 ,(1999) , 10.1002/(SICI)1097-0142(19990501)85:9<2046::AID-CNCR23>3.0.CO;2-M
Huayang Tang, Xin Jin, Yang Li, Hui Jiang, Xianfa Tang, Xu Yang, Hui Cheng, Ying Qiu, Gang Chen, Junpu Mei, Fusheng Zhou, Renhua Wu, Xianbo Zuo, Yong Zhang, Xiaodong Zheng, Qi Cai, Xianyong Yin, Cheng Quan, Haojing Shao, Yong Cui, Fangzhen Tian, Xia Zhao, Hong Liu, Fengli Xiao, Fengping Xu, Jianwen Han, Dongmei Shi, Anping Zhang, Cheng Zhou, Qibin Li, Xing Fan, Liya Lin, Hongqing Tian, Zaixing Wang, Huiling Fu, Fang Wang, Baoqi Yang, Shaowei Huang, Bo Liang, Xuefeng Xie, Yunqing Ren, Qingquan Gu, Guangdong Wen, Yulin Sun, Xueli Wu, Lin Dang, Min Xia, Junjun Shan, Tianhang Li, Lin Yang, Xiuyun Zhang, Yuzhen Li, Chundi He, Aie Xu, Liping Wei, Xiaohang Zhao, Xinghua Gao, Jinhua Xu, Furen Zhang, Jianzhong Zhang, Yingrui Li, Liangdan Sun, Jianjun Liu, Runsheng Chen, Sen Yang, Jun Wang, Xuejun Zhang, None, A large-scale screen for coding variants predisposing to psoriasis. Nature Genetics. ,vol. 46, pp. 45- 50 ,(2014) , 10.1038/NG.2827
Roopika Menon, Mario Deng, Diana Boehm, Martin Braun, Falko Fend, Detlef Boehm, Saskia Biskup, Sven Perner, Exome Enrichment and SOLiD Sequencing of Formalin Fixed Paraffin Embedded (FFPE) Prostate Cancer Tissue International Journal of Molecular Sciences. ,vol. 13, pp. 8933- 8942 ,(2012) , 10.3390/IJMS13078933
David E. Reuss, Rosario M. Piro, David T. W. Jones, Matthias Simon, Ralf Ketter, Marcel Kool, Albert Becker, Felix Sahm, Stefan Pusch, Jochen Meyer, Christian Hagenlocher, Leonille Schweizer, David Capper, Phillipp Kickingereder, Jana Mucha, Christian Koelsche, Natalie Jäger, Thomas Santarius, Patrick S. Tarpey, Philip J. Stephens, P. Andrew Futreal, Ruth Wellenreuther, Jürgen Kraus, Doris Lenartz, Christel Herold-Mende, Christian Hartmann, Christian Mawrin, Nathalia Giese, Roland Eils, V. Peter Collins, Rainer König, Otmar D. Wiestler, Stefan M. Pfister, Andreas von Deimling, Secretory meningiomas are defined by combined KLF4 K409Q and TRAF7 mutations. Acta Neuropathologica. ,vol. 125, pp. 351- 358 ,(2013) , 10.1007/S00401-013-1093-X
Prateek Kumar, Steven Henikoff, Pauline C Ng, Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nature Protocols. ,vol. 4, pp. 1073- 1081 ,(2009) , 10.1038/NPROT.2009.86
Yasuo Imai, Hidetsugu Yamagishi, Kazunori Fukuda, Yuko Ono, Tohru Inoue, Yoshihiko Ueda, Differential mucin phenotypes and their significance in a variation of colorectal carcinoma World Journal of Gastroenterology. ,vol. 19, pp. 3957- 3968 ,(2013) , 10.3748/WJG.V19.I25.3957
Tomofumi Hamada, Masamichi Goto, Hideaki Tsutsumida, Mitsuharu Nomoto, Michiyo Higashi, Tamotsu Sugai, Shin-ichi Nakamura, Suguru Yonezawa, Mapping of the methylation pattern of the MUC2 promoter in pancreatic cancer cell lines, using bisulfite genomic sequencing. Cancer Letters. ,vol. 227, pp. 175- 184 ,(2005) , 10.1016/J.CANLET.2004.11.058
Mervi Aavikko, Song-Ping Li, Silva Saarinen, Pia Alhopuro, Eevi Kaasinen, Ekaterina Morgunova, Yilong Li, Kari Vesanen, Miriam J Smith, D Gareth R Evans, Minna Pöyhönen, Anne Kiuru, Anssi Auvinen, Lauri A Aaltonen, Jussi Taipale, Pia Vahteristo, None, Loss of SUFU function in familial multiple meningioma. American Journal of Human Genetics. ,vol. 91, pp. 520- 526 ,(2012) , 10.1016/J.AJHG.2012.07.015
K. Wang, M. Li, H. Hakonarson, ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data Nucleic Acids Research. ,vol. 38, ,(2010) , 10.1093/NAR/GKQ603
S. A. Forbes, N. Bindal, S. Bamford, C. Cole, C. Y. Kok, D. Beare, M. Jia, R. Shepherd, K. Leung, A. Menzies, J. W. Teague, P. J. Campbell, M. R. Stratton, P. A. Futreal, COSMIC: mining complete cancer genomes in the Catalogue of Somatic Mutations in Cancer. Nucleic Acids Research. ,vol. 39, pp. 945- 950 ,(2011) , 10.1093/NAR/GKQ929