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

J. P. Plazzer*, R. H. Sijmons, M. O. Woods, P. Peltomaki, B. Thompson, J. T. Den Dunnen, F. Macrae

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

80 Citations (Scopus)

Abstract

This article provides a historical overview of the online database (www.insight-group.org/mutations) 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.

Original languageEnglish
Pages (from-to)175-180
Number of pages6
JournalFamilial Cancer
Volume12
Issue number2
DOIs
Publication statusPublished - Jun-2013

Keywords

  • Lynch Syndrome
  • InSiGHT database
  • Microattribution
  • Variant interpretation
  • Variant classification

Cite this