Literature DB >> 21901790

Novel LOVD databases for hereditary breast cancer and colorectal cancer genes in the Chinese population.

Min Pan1, Peikuan Cong, Yue Wang, Changsong Lin, Ying Yuan, Jian Dong, Santasree Banerjee, Tao Zhang, Yanling Chen, Ting Zhang, Mingqing Chen, Peter Hu, Shu Zheng, Jin Zhang, Ming Qi.   

Abstract

The Human Variome Project (HVP) is an international consortium of clinicians, geneticists, and researchers from over 30 countries, aiming to facilitate the establishment and maintenance of standards, systems, and infrastructure for the worldwide collection and sharing of all genetic variations effecting human disease. The HVP-China Node will build new and supplement existing databases of genetic diseases. As the first effort, we have created a novel variant database of BRCA1 and BRCA2, mismatch repair genes (MMR), and APC genes for breast cancer, Lynch syndrome, and familial adenomatous polyposis (FAP), respectively, in the Chinese population using the Leiden Open Variation Database (LOVD) format. We searched PubMed and some Chinese search engines to collect all the variants of these genes in the Chinese population that have already been detected and reported. There are some differences in the gene variants between the Chinese population and that of other ethnicities. The database is available online at http://www.genomed.org/LOVD/. Our database will appear to users who survey other LOVD databases (e.g., by Google search, or by NCBI GeneTests search). Remote submissions are accepted, and the information is updated monthly.
© 2011 Wiley Periodicals, Inc.

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Year:  2011        PMID: 21901790     DOI: 10.1002/humu.21588

Source DB:  PubMed          Journal:  Hum Mutat        ISSN: 1059-7794            Impact factor:   4.878


  9 in total

1.  Familial adenomatous polyposis in China.

Authors:  Jun Yang; Qing Wei Liu; Liang Wen Li; Qiang Zhi Wang; Min Hong; Jian Dong
Journal:  Oncol Lett       Date:  2016-10-31       Impact factor: 2.967

2.  PedAM: a database for Pediatric Disease Annotation and Medicine.

Authors:  Jinmeng Jia; Zhongxin An; Yue Ming; Yongli Guo; Wei Li; Xin Li; Yunxiang Liang; Dongming Guo; Jun Tai; Geng Chen; Yaqiong Jin; Zhimei Liu; Xin Ni; Tieliu Shi
Journal:  Nucleic Acids Res       Date:  2018-01-04       Impact factor: 16.971

3.  Gene Variant Databases and Sharing: Creating a Global Genomic Variant Database for Personalized Medicine.

Authors:  Lora J H Bean; Madhuri R Hegde
Journal:  Hum Mutat       Date:  2016-03-18       Impact factor: 4.878

4.  Identification of a comprehensive spectrum of genetic factors for hereditary breast cancer in a Chinese population by next-generation sequencing.

Authors:  Xiaochen Yang; Jiong Wu; Jingsong Lu; Guangyu Liu; Genhong Di; Canming Chen; Yifeng Hou; Menghong Sun; Wentao Yang; Xiaojing Xu; Ying Zhao; Xin Hu; Daqiang Li; Zhigang Cao; Xiaoyan Zhou; Xiaoyan Huang; Zhebin Liu; Huan Chen; Yanzi Gu; Yayun Chi; Xia Yan; Qixia Han; Zhenzhou Shen; Zhimin Shao; Zhen Hu
Journal:  PLoS One       Date:  2015-04-30       Impact factor: 3.240

5.  Synonymous mutation adenomatous polyposis coliΔ486s affects exon splicing and may predispose patients to adenomatous polyposis coli/mutY DNA glycosylase mutation‑negative familial adenomatous polyposis.

Authors:  Wei Qing Liu; Jian Dong; Yan Xia Peng; Wen Liang Li; Jun Yang
Journal:  Mol Med Rep       Date:  2018-09-20       Impact factor: 2.952

6.  LOVD-DASH: A comprehensive LOVD database coupled with diagnosis and an at-risk assessment system for hemoglobinopathies.

Authors:  Li Zhang; Qianqian Zhang; Yaohua Tang; Peikuan Cong; Yuhua Ye; Shiping Chen; Xinhua Zhang; Yan Chen; Baosheng Zhu; Wangwei Cai; Shaoke Chen; Ren Cai; Xiaoling Guo; Chonglin Zhang; Yuqiu Zhou; Jie Zou; Yanhui Liu; Biyan Chen; Shanhuo Yan; Yajun Chen; Yuehong Zhou; Hongmei Ding; Xiarong Li; Dianyu Chen; Jianmei Zhong; Xuan Shang; Xuanzhu Liu; Ming Qi; Xiangmin Xu
Journal:  Hum Mutat       Date:  2019-09-11       Impact factor: 4.878

7.  Investigating polymorphisms by bioinformatics is a potential cost-effective method to screen for germline mutations in Chinese familial adenomatous polyposis patients.

Authors:  Jun Yang; Wei Qing Liu; Wen Liang Li; Cheng Chen; Zhu Zhu; Min Hong; Zhi Qiang Wang; Jian Dong
Journal:  Oncol Lett       Date:  2016-05-30       Impact factor: 2.967

8.  eRAM: encyclopedia of rare disease annotations for precision medicine.

Authors:  Jinmeng Jia; Zhongxin An; Yue Ming; Yongli Guo; Wei Li; Yunxiang Liang; Dongming Guo; Xin Li; Jun Tai; Geng Chen; Yaqiong Jin; Zhimei Liu; Xin Ni; Tieliu Shi
Journal:  Nucleic Acids Res       Date:  2018-01-04       Impact factor: 16.971

9.  Germline mutations in cancer-predisposition genes in patients with biliary tract cancer.

Authors:  Takeshi Terashima; Kumiko Umemoto; Hideaki Takahashi; Hiroko Hosoi; Erina Takai; Shunsuke Kondo; Yasunari Sakamoto; Shuichi Mitsunaga; Izumi Ohno; Yusuke Hashimoto; Mitsuhito Sasaki; Masafumi Ikeda; Kazuaki Shimada; Shuichi Kaneko; Shinichi Yachida; Kokichi Sugano; Takuji Okusaka; Chigusa Morizane
Journal:  Oncotarget       Date:  2019-10-15
  9 in total

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