TY - JOUR
T1 - Leiden Open Variation Database of the MUTYH gene
AU - Out, Astrid A.
AU - Tops, Carli M. J.
AU - Nielsen, Maartje
AU - Weiss, Marjan M.
AU - van Minderhout, Ivonne J. H. M.
AU - Fokkema, Ivo F. A. C.
AU - Buisine, Marie-Pierre
AU - Claes, Kathleen
AU - Colas, Chrystelle
AU - Fodde, Riccardo
AU - Fostira, Florentia
AU - Franken, Patrick F.
AU - Gaustadnes, Mette
AU - Heinimann, Karl
AU - Hodgson, Shirley V.
AU - Hogervorst, Frans B. L.
AU - Holinski-Feder, Elke
AU - Lagerstedt-Robinson, Kristina
AU - Olschwang, Sylviane
AU - van den Ouweland, Ans M. W.
AU - Redeker, Egbert J. W.
AU - Scott, Rodney J.
AU - Vankeirsbilck, Bruno
AU - Grønlund, Rikke Veggerby
AU - Wijnen, Juul T.
AU - Wikman, Friedrik P.
AU - Aretz, Stefan
AU - Sampson, Julian R.
AU - Devilee, Peter
AU - den Dunnen, Johan T.
AU - Hes, Frederik J.
PY - 2010
Y1 - 2010
N2 - 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 As of April 2010, the database contains 1968 published and 423 unpublished submitted entries, and 230 and 61 unique variants,respectively.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
AB - 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
U2 - https://doi.org/10.1002/humu.21343
DO - https://doi.org/10.1002/humu.21343
M3 - Article
C2 - 20725929
SN - 1059-7794
VL - 31
SP - 1205
EP - 1215
JO - Human mutation
JF - Human mutation
IS - 11
ER -