gms | German Medical Science

127. Kongress der Deutschen Gesellschaft für Chirurgie

Deutsche Gesellschaft für Chirurgie

20.04. - 23.04.2010, Berlin

Mismatch-Repair Genes as a model for the LOVD (Leiden Open Variation Database) – the way to move forward in unclassified variants

Meeting Abstract

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  • Gabriela Möslein - St. Josefs-Hospital Bochum-Linden, Abt. Chirurgie u. Coloproktologie, Bochum, Deutschland
  • Finlay Macrae - St. Josefs-Hospital Bochum-Linden, Chirurgie, Bochum, Deutschland

Deutsche Gesellschaft für Chirurgie. 127. Kongress der Deutschen Gesellschaft für Chirurgie. Berlin, 20.-23.04.2010. Düsseldorf: German Medical Science GMS Publishing House; 2010. Doc10dgch217

DOI: 10.3205/10dgch217, URN: urn:nbn:de:0183-10dgch2177

Published: May 17, 2010

© 2010 Möslein et al.
This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by-nc-nd/3.0/deed.en). You are free: to Share – to copy, distribute and transmit the work, provided the original author and source are credited.


Outline

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Introduction: The Human Variome Project is the global community effort to collect, curate and make accessible information on all genetic variations affecting human health. Since 1996, the concept of the Human Variome Project has evolved and matured to become a partnership of countries and organisations working to create the systems necessary to ensure that all genetic variations of clinical relevance are collected, curated and made freely available to all.

Materials and methods: In the context of a concerted effort together with InSiGHT (International Society for Gastrointestinal HereditaryTumours) and HVP (Human Variome Project), it was agreed that the implementation of an open source database for the Mismatch-Repair-(MMR) genes may serve as a model for other genetic diseases. A prerequisite for this was the anonymized information, flagged however to the individual centers and labelled with the interpretation of pathogenicity. We were now interested in the use and acceptability of this model concept and interrogated the database.

Results: We have seen a constant increase in entries and even more in the use of the database. In the table below you may see this increase with the example of the MMR gene hMSH2.

At this point, with a steadily increasing rate, 20,000 page loads per month are observed for the MMr genes from over 500 different users per month.

(Table 1 [Tab. 1])

Conclusion: The LOVD is an innovative concept that with the model of the MMR genes has proven to be a tremendous success as a model both for scientists and clinicians dealing with UV's. We foresee, that this approach will render significant clinical advantage for patients with unclassified variants increasing internationally the speed of labelling these as pathogenic or quiescent. Future genetic dispositions will certainly benefit by this approach and example.