与遗传性非息肉病性结直肠癌易感性相关的突变——ICG-HNPCC/INSiGHT突变数据库更新
Mutations associated with HNPCC predisposition -- Update of ICG-HNPCC/INSiGHT mutation database.
作者信息
Peltomäki Päivi, Vasen Hans
机构信息
Department of Medical Genetics, University of Helsinki, Helsinki, Finland.
出版信息
Dis Markers. 2004;20(4-5):269-76. doi: 10.1155/2004/305058.
In 1994, the International Collaborative Group on Hereditary Nonpolyposis Colorectal Cancer (ICG-HNPCC) established an international database of mutations identified in families with Lynch (HNPCC) syndrome. The data are publicly available at http://www.nfdht.nl. The information stored in the database was systematically analyzed in 1997, and at that time, 126 different predisposing mutations were reported affecting the DNA mismatch repair genes MSH2 and MLH1 and occurring in 202 families. In 2003, the ICG-HNPCC and the Leeds Castle Polyposis Group (LCPG) merged into a new group, INSiGHT (International Society for Gastrointestinal Hereditary Tumors). The present update of the database of DNA mismatch repair gene mutations of INSiGHT includes 448 mutations that primarily involve MLH1 (50%), MSH2 (39%), and MSH6 (7%) and occur in 748 families from different parts of the world.
1994年，遗传性非息肉病性结直肠癌国际协作组（ICG-HNPCC）建立了一个国际数据库，用于收录林奇（HNPCC）综合征家族中鉴定出的突变。这些数据可在http://www.nfdht.nl上公开获取。1997年对数据库中存储的信息进行了系统分析，当时报告了126种不同的易感性突变，这些突变影响DNA错配修复基因MSH2和MLH1，并出现在202个家族中。2003年，ICG-HNPCC与利兹城堡息肉病研究组（LCPG）合并为一个新的组织，即国际胃肠道遗传性肿瘤学会（INSIGHT）。INSIGHT的DNA错配修复基因突变数据库的此次更新包括448种突变，这些突变主要涉及MLH1（50%）、MSH2（39%）和MSH6（7%），并出现在来自世界不同地区的748个家族中。
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