Mutations associated with HNPCC predisposition -: Update of ICG-HNPCC/INSiGHT mutation database

被引：341

作者：

Peltomäki, P

Vasen, H

机构：

[1] Univ Helsinki, Dept Med Genet, Biomed Helsinki, FIN-00014 Helsinki, Finland

[2] Leiden Univ, Med Ctr, Netherlands Fdn Detect Hereditary Tumours, Leiden, Netherlands

[3] Leiden Univ, Med Ctr, Dept Gastroenterol, Leiden, Netherlands

来源：

DISEASE MARKERS | 2004年 / 20卷 / 4-5期

关键词：

hereditary nonpolyposis colorectal cancer; MLH1; MLH3; MSH2; MSH6; PMS1; PMS2;

D O I：

10.1155/2004/305058

中图分类号：

Q81 [生物工程学（生物技术）]; Q93 [微生物学];

学科分类号：

071005 ; 0836 ; 090102 ; 100705 ;

摘要：

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 date. 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.

引用

页码：269 / 276

页数：8

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