Familial Cancer

, Volume 12, Issue 2, pp 175–180

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

  • J. P. Plazzer
  • R. H. Sijmons
  • M. O. Woods
  • P. Peltomäki
  • B. Thompson
  • J. T. Den Dunnen
  • F. Macrae
Original Article

DOI: 10.1007/s10689-013-9616-0

Cite this article as:
Plazzer, J.P., Sijmons, R.H., Woods, M.O. et al. Familial Cancer (2013) 12: 175. doi:10.1007/s10689-013-9616-0

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.

Keywords

Lynch Syndrome InSiGHT database Microattribution Variant interpretation Variant classification 

Copyright information

© Springer Science+Business Media Dordrecht 2013

Authors and Affiliations

  • J. P. Plazzer
    • 1
  • R. H. Sijmons
    • 2
  • M. O. Woods
    • 3
  • P. Peltomäki
    • 4
  • B. Thompson
    • 5
    • 6
  • J. T. Den Dunnen
    • 7
  • F. Macrae
    • 1
  1. 1.Department of Colorectal Medicine and GeneticsThe Royal Melbourne HospitalParkvilleAustralia
  2. 2.Department of GeneticsUniversity of Groningen, University Medical Center GroningenGroningenThe Netherlands
  3. 3.Discipline of Genetics, Faculty of MedicineMemorial UniversitySt. John’sCanada
  4. 4.Department of Medical Genetics, Haartman InstituteUniversity of HelsinkiHelsinkiFinland
  5. 5.Queensland Institute of Medical ResearchHerston, BrisbaneAustralia
  6. 6.School of MedicineUniversity of QueenslandBrisbaneAustralia
  7. 7.Center of Human and Clinical GeneticsLeiden University Medical CenterLeidenThe Netherlands

Personalised recommendations