Familial Cancer

, Volume 12, Issue 2, pp 175–180 | Cite as

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

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 

References

  1. 1.
    Fokkema IF, Taschner PE, Schaafsma GC et al (2011) LOVD v. 2.0: the next generation in gene variant databases. Hum Mutat 32:557–563PubMedCrossRefGoogle Scholar
  2. 2.
    Peltomäki P, Vasen H (1997) Mutations predisposing to hereditary nonpolyposis colorectal cancer: database and results of a collaborative study. The International Collaborative Group on Hereditary Nonpolyposis Colorectal Cancer. Gastroenterology 113:1146–1158PubMedCrossRefGoogle Scholar
  3. 3.
    Peltomäki P, Vasen H (2004) Mutations associated with HNPCC predisposition—update of ICG-HNPCC/INSiGHT mutation database. Dis Markers 20:269–276PubMedCrossRefGoogle Scholar
  4. 4.
    Woods MO, Williams P, Careen A et al (2007) A new variant database for mismatch repair genes associated with Lynch syndrome. Hum Mutat 28:669–673PubMedCrossRefGoogle Scholar
  5. 5.
    Ou J, Niessen RC, Vonk J et al (2008) A database to support the interpretation of human mismatch repair gene variants. Hum Mutat 29:1337–1341PubMedCrossRefGoogle Scholar
  6. 6.
    Kaput J, Cotton RG, Hardman L et al (2009) Planning the Human Variome Project: the Spain report. Hum Mutat 30:496–510PubMedCrossRefGoogle Scholar
  7. 7.
    Plon SE, Eccles DM, Easton D et al (2008) Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results. Hum Mutat 29:1282–1291PubMedCrossRefGoogle Scholar
  8. 8.
    Giardine B, Borg J, Higgs DR et al (2011) Systematic documentation and analysis of human genetic variation in hemoglobinopathies using the microattribution approach. Nat Genet 43(4):295–301PubMedCrossRefGoogle Scholar

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

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