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

被引:16
|
作者
Pan, Min [1 ]
Cong, Peikuan [1 ]
Wang, Yue [2 ]
Lin, Changsong [1 ]
Yuan, Ying [3 ]
Dong, Jian [4 ]
Banerjee, Santasree [1 ]
Zhang, Tao [5 ]
Chen, Yanling [1 ]
Zhang, Ting [1 ]
Chen, Mingqing [4 ]
Hu, Peter [2 ]
Zheng, Shu [3 ]
Zhang, Jin [6 ]
Qi, Ming [1 ,5 ,7 ]
机构
[1] Zhejiang Univ, Sch Med, Hangzhou 310003, Zhejiang, Peoples R China
[2] Univ Texas MD Anderson Canc Ctr, Mol Genet Technol Program, Houston, TX 77030 USA
[3] Zhejiang Univ, Sch Med, Affiliated Hosp 2, Hangzhou 310003, Zhejiang, Peoples R China
[4] Kunming Med Coll, Affiliated Hosp 1, Kunming, Yunnan, Peoples R China
[5] Zhejiang Univ, James D Watson Inst Genome Sci, Hangzhou 310003, Zhejiang, Peoples R China
[6] Tianjin Med Univ, Canc Hosp & Res Inst, Tianjin, Peoples R China
[7] Univ Rochester, Dept Pathol & Lab Med, Rochester, NY USA
基金
中国国家自然科学基金;
关键词
breast cancer; Lynch syndrome; FAP; LOVD; tumor suppressor gene; NONPOLYPOSIS COLON-CANCER; SUSCEPTIBILITY GENE; OVARIAN-CANCER; GERMLINE MUTATIONS; FOUNDER MUTATIONS; BRCA2; MUTATIONS; WOMEN; 185DELAG; PREVALENCE; FREQUENCY;
D O I
10.1002/humu.21588
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
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.
引用
收藏
页码:1335 / 1340
页数:6
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