The InSiGHT database: utilizing 100 years of insights into Lynch Syndrome

Plazzer, J. P., Sijmons, R. H., Woods, M. O., Peltomaki, P., Thompson, B., Den Dunnen, J. T. and Macrae, F. (2013) The InSiGHT database: utilizing 100 years of insights into Lynch Syndrome. Familial Cancer, 12 2: 175-180. doi:10.1007/s10689-013-9616-0

Author Plazzer, J. P.
Sijmons, R. H.
Woods, M. O.
Peltomaki, P.
Thompson, B.
Den Dunnen, J. T.
Macrae, F.
Title The InSiGHT database: utilizing 100 years of insights into Lynch Syndrome
Journal name Familial Cancer   Check publisher's open access policy
ISSN 1389-9600
Publication date 2013-06-01
Sub-type Article (original research)
DOI 10.1007/s10689-013-9616-0
Open Access Status Not Open Access
Volume 12
Issue 2
Start page 175
End page 180
Total pages 6
Place of publication Dordrecht, Netherlands
Publisher Springer
Language eng
Abstract This article provides a historical overview of the online database ( maintained by the International Society for Gastrointestinal Hereditary Tumours. The focus is on the mismatch repair genes which are mutated in Lynch Syndrome. APC, MUTYH and other genes are also an important part of the database, but are not covered here. Over time, as the understanding of the genetics of Lynch Syndrome increased, databases were created to centralise and share the variants which were being detected in ever greater numbers. These databases were eventually merged into the InSiGHT database, a comprehensive repository of gene variant and disease phenotype information, serving as a starting point for important endeavours including variant interpretation, research, diagnostics and enhanced global collection. Pivotal to its success has been the collaborative spirit in which it has been developed, its association with the Human Variome Project, the appointment of a full time curator and its governance stemming from the well established organizational structure of InSiGHT.
Keyword Lynch Syndrome
InSiGHT database
Variant interpretation
Variant classification
Q-Index Code C1
Q-Index Status Confirmed Code
Institutional Status UQ

Document type: Journal Article
Sub-type: Article (original research)
Collections: Official 2014 Collection
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