title: Novel LOVD databases for hereditary breast cancer and colorectal cancer genes in the Chinese population.
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.
authors: Zhejiang University School of Medicine, Hangzhou, Zhejiang, China.
authors: Min
authors: M
authors: Pan
authors: Peikuan
authors: P
authors: Cong
authors: Yue
authors: Y
authors: Wang
authors: Changsong
authors: C
authors: Lin
authors: Ying
authors: Y
authors: Yuan
authors: Jian
authors: J
authors: Dong
authors: Santasree
authors: S
authors: Banerjee
authors: Tao
authors: T
authors: Zhang
authors: Yanling
authors: Y
authors: Chen
authors: Ting
authors: T
authors: Zhang
authors: Mingqing
authors: M
authors: Chen
authors: Peter
authors: P
authors: Hu
authors: Shu
authors: S
authors: Zheng
authors: Jin
authors: J
authors: Zhang
authors: Ming
authors: M
authors: Qi
mesh_terms: D011125:Adenomatous Polyposis Coli / Q000235:genetics*; D044466:Asian People / Q000235:genetics*; D001943:Breast Neoplasms / Q000235:genetics*; D002681:China; D003123:Colorectal Neoplasms, Hereditary Nonpolyposis / Q000235:genetics*; D053843:DNA Mismatch Repair / Q000235:genetics; D030541:Databases, Genetic; D005260:Female; D017491:Genes, APC; D019398:Genes, BRCA1; D024522:Genes, BRCA2; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D006801:Humans