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

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机构: [1]Zhejiang University School of Medicine, Hangzhou, Zhejiang, China [2]Molecular Genetic Technology Program, University of Texas, M. D. Anderson Cancer Center, Houston, Texas [3]Zhejiang University School of Medicine Second Affiliated Hospital, Hangzhou, Zhejiang, China [4]First Affiliated Hospital of Kunming Medical College, Kunming, Yunnan, China [5]James D. Watson Institute of Genome Science, Zhejiang University, Hangzhou, China [6]Tianjin Medical University Cancer Hospital and Research Institute, China [7]Department of Pathology and Laboratory Medicine, University of Rochester, Rochester, New York
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关键词: breast cancer Lynch syndrome FAP LOVD tumor suppressor gene

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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.

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出版当年[2012]版:
大类 | 2 区 医学
小类 | 2 区 遗传学
最新[2023]版:
大类 | 2 区 医学
小类 | 2 区 遗传学
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出版当年[2011]版:
Q1 GENETICS & HEREDITY
最新[2023]版:
Q2 GENETICS & HEREDITY

影响因子: 最新[2023版] 最新五年平均 出版当年[2011版] 出版当年五年平均 出版前一年[2010版] 出版后一年[2012版]

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第一作者机构: [1]Zhejiang University School of Medicine, Hangzhou, Zhejiang, China
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通讯机构: [*1]Center for Genetic and Genomic Medicine, Zhejiang University School of Medicine First Affiliated Hospital, 79 Qingchun Road, Hangzhou 310003, Zhejiang, China. [*2]Tianjin Medical UniversityCancer Hospital and Research Institute, China [*3]Tianjin BreastCancer Prevention, Treatment and Research Center, Breast Cancer Research Key Laboratory of Education Ministry, Tianjin, China [*4]Zhejiang University School of Medicine Second Affiliated Hospital, Hangzhou 310003, Zhejiang, China.
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