Hum Mutat 2011 Dec;32 (12): 1335-40. [IF:5.956]
Novel LOVD databases for hereditary breast cancer and colorectal cancer genes in the Chinese population.
Pan M , Cong P , Wang Y , Lin C , Yuan Y , Dong J , Banerjee S , Zhang T , Chen Y , Zhang T , Chen M , Hu P , Zheng S , Zhang J , Qi M .
Zhejiang University School of Medicine, Hangzhou, Zhejiang, China.
浙江大学医学院
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. 32:1335-1340, 2011. ?2011 Wiley Periodicals, Inc.
摘要:
人类基因变异组计划(HVP)是一项由来自30多个国家的临床医师，遗传学家和研究人员共同合作的国际工程，旨在收集所有与人类疾病相关的遗传变异，使得全世界的临床医生和科学家能够共享这些疾病相关遗传数据，应用于基础研究和临床实践。HVP的中国节点将建立新的和补充现有的数据库中的遗传性疾病。我们努力的第一步是建立了中国人群遗传性乳腺癌、Lynch综合征及家族性腺瘤息肉病(FAP)基因的新LOVD数据库，分别包括 BRCA1 and BRCA2,错配修复基因(MMR)和乳腺癌APC基因。我们通过检索PubMed和一些中国的搜索引擎，收集所有的在中国人群中已经发现和报告的这些基因的变异。中国人群和其他种族的基因变异存在一定的差异。在http://www.genomed.org/LOVD/可以找到数据库。用户也可以通过调查的其他LOVD数据库（例如，通过Google搜索，或NCBI的Gene Tests搜索）看到我们的数据库。
