Novel LOVD databases for hereditary breast cancer and colorectal cancer genes in the Chinese population
Novel LOVD databases for hereditary breast cancer and colorectal cancer genes in the Chinese population
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DOI：
10.1002/humu.21588
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发表时间：
2011-12-01
期刊：
影响因子：
3.9
通讯作者：
Qi, Ming
中科院分区：
文献类型：
--
作者：
Pan, Min;Cong, Peikuan;Qi, Ming
人类变异组计划（Human Variome Project，HVP）是一个由来自30多个国家的临床医生、遗传学家和研究人员组成的国际联盟，旨在促进建立和维护标准、系统和基础设施，以便在全球范围内收集和共享影响人类疾病的所有遗传变异。HVP中国节点将建立新的遗传病数据库，并补充现有的遗传病数据库。作为第一个努力，我们已经创建了一个新的BRCA1和BRCA2，错配修复基因（MMR），APC基因的乳腺癌，林奇综合征，家族性腺瘤性息肉病（FAP），分别在中国人群中使用莱顿开放变异数据库（LOVD）格式的变异数据库。我们检索了PubMed和一些中文搜索引擎，收集了中国人群中已经检测到并报道的所有这些基因的变异。中国人群的基因变异与其他种族人群存在一定差异。该数据库可在网上查阅。我们的数据库将显示给调查其他LOVD数据库的用户（例如，通过Google搜索，或通过NCBI GeneTests搜索）。接受远程提交，并且每月更新信息。32：13351340，2011. (C)2011 Wiley Periodicals，Inc.
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 . 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. 32:13351340, 2011. (C) 2011 Wiley Periodicals, Inc.