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Disease Markers
Volume 20 (2004), Issue 4-5, Pages 269-276
http://dx.doi.org/10.1155/2004/305058

Mutations Associated with HNPCC Predisposition — Update of ICG-HNPCC/INSiGHT Mutation Database

Päivi Peltomäki1 and Hans Vasen2

1Department of Medical Genetics, University of Helsinki, Helsinki, Finland
2The Netherlands Foundation for the Detection of Hereditary Tumours and Department of Gastroenterology. Leiden University Medical Centre, The Netherlands

Received 26 October 2004; Accepted 26 October 2004

Copyright © 2004 Hindawi Publishing Corporation. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

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.