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

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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.

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Acknowledgments

The interpretation committee is operationally funded through the Cancer Council of Victoria (Australia), and the curation generously funded by the George Hicks Foundation in Melbourne Australia (to September 2012) and then The Royal Melbourne Hospital Foundation.

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Authors and Affiliations

  1. Department of Colorectal Medicine and Genetics, The Royal Melbourne Hospital, Parkville, Australia

    J. P. Plazzer & F. Macrae

  2. Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands

    R. H. Sijmons

  3. Discipline of Genetics, Faculty of Medicine, Memorial University, St. John’s, NL, Canada

    M. O. Woods

  4. Department of Medical Genetics, Haartman Institute, University of Helsinki, Helsinki, Finland

    P. Peltomäki

  5. Queensland Institute of Medical Research, Herston, Brisbane, Australia

    B. Thompson

  6. School of Medicine, University of Queensland, Brisbane, Australia

    B. Thompson

  7. Center of Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands

    J. T. Den Dunnen

Authors
  1. J. P. Plazzer
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  2. R. H. Sijmons
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  3. M. O. Woods
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  4. P. Peltomäki
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  5. B. Thompson
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  6. J. T. Den Dunnen
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  7. F. Macrae
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Correspondence to J. P. Plazzer.

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Plazzer, J.P., Sijmons, R.H., Woods, M.O. et al. The InSiGHT database: utilizing 100 years of insights into Lynch Syndrome. Familial Cancer 12, 175–180 (2013). https://doi.org/10.1007/s10689-013-9616-0

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  • DOI: https://doi.org/10.1007/s10689-013-9616-0

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