Affiliations: Department of Medical Genetics, University of
Helsinki, Helsinki, Finland | The Netherlands Foundation for the Detection of
Hereditary Tumours and Department of Gastroenterology. Leiden University
Medical Centre, The Netherlands
Note: [] Corresponding author: Department of Medical Genetics, Biomedicum
Helsinki, P. O. Box 63 (Haartmaninkatu 8), FIN-00014 University of Helsinki,
Finland. Tel.: +358 9 19125092; Fax: +358 9 19125105; E-mail:
Paivi.Peltomaki@Helsinki.Fi
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.
