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Leiden Open Variation Database of the MUTYH gene

Out, Astrid A. and Tops, Carli M. J. and Nielsen, Maartje and Weiss, Marjan M. and van Minderhout, Ivonne J. H. M. and Fokkema, Ivo F. A. C. and Buisine, Marie-Pierre and Claes, Kathleen and Colas, Chrystelle and Fodde, Riccardo and Fostira, Florentia and Franken, Patrick F. and Gaustadnes, Mette and Heinimann, Karl and Hodgson, Shirley V. and Hogervorst, Frans B. L. and Holinski-Feder, Elke and Lagerstedt-Robinson, Kristina and Olschwang, Sylviane and van den Ouweland, Ans M. W. and Redeker, Egbert J. W. and Scott, Rodney J. and Vankeirsbilck, Bruno and Grønlund, Rikke Veggerby and Wijnen, Juul T. and Wikman, Friedrik P. and Aretz, Stefan and Sampson, Julian R. and Devilee, Peter and den Dunnen, Johan T. and Hes, Frederik J.. (2010) Leiden Open Variation Database of the MUTYH gene. Human mutation, Vol. 31, H. 11. S. 1205-1215.

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Official URL: http://edoc.unibas.ch/dok/A6004529

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Abstract

The MUTYH gene encodes a DNA glycosylase involved in base excision repair (BER). Biallelic pathogenic MUTYH variants have been associated with colorectal polyposis and cancer. The pathogenicity of a few variants is beyond doubt, including c.536A4G/p.Tyr179Cys and c.1187G4A/p.Gly396Asp (previously c.494A4G/p.Tyr165Cys and c.1145G4A/p.Gly382Asp).However, for a substantial fraction of the detected variants, the clinical significance remains uncertain,compromising molecular diagnostics and thereby genetic counseling. We have established an interactive MUTYH gene sequence variant database (www.lovd.nl/MUTYH) with the aim of collecting and sharing MUTYH genotype and phenotype data worldwide. To support standard variant description, we chose NM_001128425.1 as the reference sequence. The database includes records with variants per individual, linked to available phenotype and geographic origin data as well as records with in vitro functional and in silico test data. As of April 2010, the database contains 1968 published and 423 unpublished submitted entries, and 230 and 61 unique variants,respectively. This open-access repository allows all involved to quickly share all variants encountered and communicate potential consequences, which will be especially useful to classify variants of uncertain significance.
Faculties and Departments:03 Faculty of Medicine > Bereich Kinder- und Jugendheilkunde (Klinik) > Kinder- und Jugendheilkunde (UKBB) > Medizinische Genetik (Miny)
03 Faculty of Medicine > Departement Klinische Forschung > Bereich Kinder- und Jugendheilkunde (Klinik) > Kinder- und Jugendheilkunde (UKBB) > Medizinische Genetik (Miny)
UniBasel Contributors:Heinimann, Karl
Item Type:Article, refereed
Bibsysno:Link to catalogue
Publisher:Wiley-Liss
ISSN:1098-1004
Note:Publication type according to Uni Basel Research Database: Journal article
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Last Modified:01 Feb 2013 08:46
Deposited On:01 Feb 2013 08:43

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