Hernandez-Boussard T, Rodriguez-Tome P, Montesano R, Hainaut P
International Agency for Research on Cancer, Lyon, France.
Hum Mutat. 1999;14(1):1-8. doi: 10.1002/(SICI)1098-1004(1999)14:1<1::AID-HUMU1>3.0.CO;2-H.
The tumor suppressor p53 gene is the most frequently mutated gene in human cancer. To date, more than 10,000 mutations have been described in the literature, and these data are available in various electronic formats on the World Wide Web. Here we describe the structure and format of the different p53 datasets maintained and curated at the International Agency for Research on Cancer (IARC) in Lyon, France. These include p53 somatic mutations (more than 10,000 entries), p53 germline mutations (144 entries), and p53 polymorphisms (13 entries), with the somatic mutations organized into a relational database using AccessTM. The main features of these datasets are (1) controlled entry with standardized format and restricted vocabulary, (2) inclusion of annotations on individual characteristics and exposures, and (3) a classification of pathologies based on the International Classification of Diseases for Oncology (ICD-O). In addition, several interfaces have been developed to analyze the data in order to produce mutation spectra, codon analyses, or visualization of the mutation with the tertiary structure of the protein. All datasets and tools for analysis are available at http://www.iarc.fr/p53/homepage.
肿瘤抑制基因p53是人类癌症中最常发生突变的基因。迄今为止,文献中已描述了10000多种突变,这些数据以各种电子格式在万维网上提供。在此,我们描述了法国里昂国际癌症研究机构(IARC)维护和整理的不同p53数据集的结构和格式。这些数据集包括p53体细胞突变(超过10000条记录)、p53种系突变(144条记录)和p53多态性(13条记录),其中体细胞突变使用AccessTM组织成一个关系数据库。这些数据集的主要特点是:(1)采用标准化格式和受限词汇进行受控录入;(2)包含关于个体特征和暴露情况的注释;(3)根据国际肿瘤疾病分类(ICD-O)对病理进行分类。此外,还开发了几个接口来分析数据,以便生成突变谱、密码子分析或蛋白质三级结构突变可视化。所有数据集和分析工具均可在http://www.iarc.fr/p53/homepage上获取。