De Vries E M, Ricke D O, De Vries T N, Hartmann A, Blaszyk H, Liao D, Soussi T, Kovach J S, Sommer S S
Department of Pediatric Oncology, Mayo Clinic/Foundation, Rochester, Minnesota 55905, USA.
Hum Mutat. 1996;7(3):202-13. doi: 10.1002/(SICI)1098-1004(1996)7:3<202::AID-HUMU4>3.0.CO;2-C.
Germline and somatic mutations in the p53 and APC genes contribute to neoplasia. The patterns of these and other acquired mutations in cancers reflect environmental mutagens and endogenous factors that contribute to carcinogenesis. Herein, we describe a database of almost 2,300 mutations in the p53 and APC genes published until September 1, 1993. In addition to cataloging the mutations, multiple fields of information have been added to facilitate future molecular epidemiological analyses of human cancer. The accuracy of the database has been checked by the present authors and, by soliciting feedback from the original corresponding authors. The strengths and limitations of the primary literature are discussed.
p53和APC基因中的种系突变和体细胞突变会导致肿瘤形成。癌症中这些及其他获得性突变的模式反映了导致致癌作用的环境诱变剂和内源性因素。在此，我们描述了一个数据库，其中包含截至1993年9月1日已发表的p53和APC基因中近2300个突变。除了对突变进行编目外，还添加了多个信息字段，以促进未来对人类癌症的分子流行病学分析。本作者已检查了该数据库的准确性，并征求了原始通讯作者的反馈意见。文中还讨论了原始文献的优点和局限性。
