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Leiden open variation database of the MUTYH gene

Identifieur interne : 007252 ( Main/Exploration ); précédent : 007251; suivant : 007253

Leiden open variation database of the MUTYH gene

Auteurs : Astrid A. Out [Pays-Bas] ; Carli M. J. Tops [Pays-Bas] ; Maartje Nielsen [Pays-Bas] ; Marjan M. Weiss [Pays-Bas] ; Ivonne J. H. M. Van Minderhout [Pays-Bas] ; Ivo F. A. C. Fokkema [Pays-Bas] ; Marie-Pierre Buisine [France] ; Kathleen Claes [Belgique] ; Chrystelle Colas [France] ; Riccardo Fodde [Pays-Bas] ; Florentia Fostira [Grèce] ; Patrick F. Franken [Pays-Bas] ; Mette Gaustadnes [Danemark] ; Karl Heinimann [Suisse] ; Shirley V. Hodgson [Royaume-Uni] ; Frans B. L. Hogervorst [Pays-Bas] ; Elke Holinski-Feder [Allemagne] ; Kristina Lagerstedt-Robinson [Suède] ; Sylviane Olschwang [France] ; Van Den Ouweland Ans M. W. [Pays-Bas] ; Egbert J. W. Redeker [Pays-Bas] ; Rodney J. Scott [Australie] ; Bruno Vankeirsbilck [Belgique] ; Rikke Veggerby Gr Nlund [Danemark] ; Juul T. Wijnen [Pays-Bas] ; Friedrik P. Wikman [Danemark] ; Stefan Aretz [Allemagne] ; Julian R. Sampson [Royaume-Uni] ; Peter Devilee [Pays-Bas] ; Johan T. Den Dunnen [Pays-Bas] ; Frederik J. Hes [Pays-Bas]

Source :

RBID : ISTEX:67661BEDECD2819B51432F0F9E9B0C811AE72E3B

Descripteurs français

English descriptors

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.536A>G/p.Tyr179Cys and c.1187G>A/p.Gly396Asp (previously c.494A>G/p.Tyr165Cys and c.1145G>A/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 As of April 2010, the database contains 1968 published and 423 unpublished submitted entries, and 230 and 61 unique variants, respectively.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. Hum Mutat 31:1–11, 2010. © 2010 Wiley‐Liss, Inc.

Url:
DOI: 10.1002/humu.21343


Affiliations:


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</affiliation>
</author>
<author>
<name sortKey="Aretz, Stefan" sort="Aretz, Stefan" uniqKey="Aretz S" first="Stefan" last="Aretz">Stefan Aretz</name>
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<wicri:regionArea>Institute of Human Genetics, University of Bonn, Bonn</wicri:regionArea>
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<author>
<name sortKey="Sampson, Julian R" sort="Sampson, Julian R" uniqKey="Sampson J" first="Julian R." last="Sampson">Julian R. Sampson</name>
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<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Institute of Medical Genetics, School of Medicine, Cardiff University, Heath Park, Cardiff</wicri:regionArea>
<wicri:noRegion>Cardiff</wicri:noRegion>
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<name sortKey="Devilee, Peter" sort="Devilee, Peter" uniqKey="Devilee P" first="Peter" last="Devilee">Peter Devilee</name>
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<wicri:regionArea>Department of Human Genetics, Leiden University Medical Center, Leiden</wicri:regionArea>
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<settlement type="city">Leyde</settlement>
<region nuts="2" type="province">Hollande-Méridionale</region>
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<wicri:regionArea>Department of Clinical Genetics, Leiden University Medical Center, Leiden</wicri:regionArea>
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<settlement type="city">Leyde</settlement>
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<title level="j" type="main">Human Mutation</title>
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<idno type="ISSN">1059-7794</idno>
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<keywords scheme="KwdEn" xml:lang="en">
<term>Adenine</term>
<term>Allele</term>
<term>Allele frequency</term>
<term>Alpha3</term>
<term>Alpha5</term>
<term>Amino</term>
<term>Amino acids</term>
<term>Annotation</term>
<term>Assay</term>
<term>Base excision repair</term>
<term>Base excision repair gene</term>
<term>Biallelic</term>
<term>Breast cancer</term>
<term>Carcinoma</term>
<term>Cleary</term>
<term>Clin oncol</term>
<term>Clinical genetics</term>
<term>Coding exons</term>
<term>Coding reference sequence</term>
<term>Codon</term>
<term>Coli</term>
<term>Colorectal</term>
<term>Colorectal cancer</term>
<term>Colorectal cancer risk</term>
<term>Colorectal carcinomas</term>
<term>Colorectal polyposis</term>
<term>Colorectal tumors</term>
<term>Database</term>
<term>Database contents</term>
<term>Endometrial cancer</term>
<term>Erasmus university</term>
<term>Ethnic origin</term>
<term>European descent</term>
<term>Excision</term>
<term>Exon</term>
<term>Familial adenomatous polyposis</term>
<term>Frameshift variants</term>
<term>Functional assays</term>
<term>Functional characterization</term>
<term>Functional domains</term>
<term>Gamma transcripts</term>
<term>Gastric cancer</term>
<term>Gene</term>
<term>Gene databases</term>
<term>Genet</term>
<term>Genetic counseling</term>
<term>Genetic variation</term>
<term>Genetics</term>
<term>Germline</term>
<term>Germline mutations</term>
<term>Germline variants</term>
<term>Glycosylase</term>
<term>Hepatocellular carcinoma</term>
<term>Hmyh</term>
<term>Homolog</term>
<term>Human genetics</term>
<term>Human mutation</term>
<term>Human muty</term>
<term>Human muty homolog</term>
<term>Human mutyh gene</term>
<term>Isoform</term>
<term>Isoforms</term>
<term>Largest isoform</term>
<term>Leiden</term>
<term>Leiden university</term>
<term>Lovd</term>
<term>Lovd database</term>
<term>Lovd format</term>
<term>Lovd software</term>
<term>Mature mrnas</term>
<term>Medical genetics</term>
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<term>Missense variants</term>
<term>Multiple genes</term>
<term>Mutat</term>
<term>Mutation</term>
<term>Muty</term>
<term>Muty homolog</term>
<term>Mutyh</term>
<term>Mutyh lovd</term>
<term>Mutyh protein</term>
<term>Mutyh variants</term>
<term>Ncbi</term>
<term>Neck cancer</term>
<term>Nielsen</term>
<term>Nonsense variants</term>
<term>Nucleic</term>
<term>Nucleic acids</term>
<term>Nucleotide</term>
<term>Oxidative damage</term>
<term>Pathogenic</term>
<term>Pathogenic variants</term>
<term>Pathogenicity</term>
<term>Phenotype</term>
<term>Phenotype data</term>
<term>Polyposis</term>
<term>Privacy issues</term>
<term>Prostate cancer</term>
<term>Putative</term>
<term>Reference sequence</term>
<term>Repair enzyme</term>
<term>Sampson</term>
<term>Silico</term>
<term>Silico analyses</term>
<term>Silico test data</term>
<term>Software</term>
<term>Somatic mutations</term>
<term>Splice</term>
<term>Splice variant</term>
<term>Submitter</term>
<term>Supp</term>
<term>Test results</term>
<term>Transcript</term>
<term>Transcript alpha5</term>
<term>Uncertain significance</term>
<term>Unique variants</term>
<term>Unpublished data</term>
<term>Variant</term>
<term>Variant pathogenicity</term>
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</keywords>
<keywords scheme="Teeft" xml:lang="en">
<term>Adenine</term>
<term>Allele</term>
<term>Allele frequency</term>
<term>Alpha3</term>
<term>Alpha5</term>
<term>Amino</term>
<term>Amino acids</term>
<term>Annotation</term>
<term>Assay</term>
<term>Base excision repair</term>
<term>Base excision repair gene</term>
<term>Biallelic</term>
<term>Breast cancer</term>
<term>Carcinoma</term>
<term>Cleary</term>
<term>Clin oncol</term>
<term>Clinical genetics</term>
<term>Coding exons</term>
<term>Coding reference sequence</term>
<term>Codon</term>
<term>Coli</term>
<term>Colorectal</term>
<term>Colorectal cancer</term>
<term>Colorectal cancer risk</term>
<term>Colorectal carcinomas</term>
<term>Colorectal polyposis</term>
<term>Colorectal tumors</term>
<term>Database</term>
<term>Database contents</term>
<term>Endometrial cancer</term>
<term>Erasmus university</term>
<term>Ethnic origin</term>
<term>European descent</term>
<term>Excision</term>
<term>Exon</term>
<term>Familial adenomatous polyposis</term>
<term>Frameshift variants</term>
<term>Functional assays</term>
<term>Functional characterization</term>
<term>Functional domains</term>
<term>Gamma transcripts</term>
<term>Gastric cancer</term>
<term>Gene</term>
<term>Gene databases</term>
<term>Genet</term>
<term>Genetic counseling</term>
<term>Genetic variation</term>
<term>Genetics</term>
<term>Germline</term>
<term>Germline mutations</term>
<term>Germline variants</term>
<term>Glycosylase</term>
<term>Hepatocellular carcinoma</term>
<term>Hmyh</term>
<term>Homolog</term>
<term>Human genetics</term>
<term>Human mutation</term>
<term>Human muty</term>
<term>Human muty homolog</term>
<term>Human mutyh gene</term>
<term>Isoform</term>
<term>Isoforms</term>
<term>Largest isoform</term>
<term>Leiden</term>
<term>Leiden university</term>
<term>Lovd</term>
<term>Lovd database</term>
<term>Lovd format</term>
<term>Lovd software</term>
<term>Mature mrnas</term>
<term>Medical genetics</term>
<term>Missense</term>
<term>Missense variants</term>
<term>Multiple genes</term>
<term>Mutat</term>
<term>Mutation</term>
<term>Muty</term>
<term>Muty homolog</term>
<term>Mutyh</term>
<term>Mutyh lovd</term>
<term>Mutyh protein</term>
<term>Mutyh variants</term>
<term>Ncbi</term>
<term>Neck cancer</term>
<term>Nielsen</term>
<term>Nonsense variants</term>
<term>Nucleic</term>
<term>Nucleic acids</term>
<term>Nucleotide</term>
<term>Oxidative damage</term>
<term>Pathogenic</term>
<term>Pathogenic variants</term>
<term>Pathogenicity</term>
<term>Phenotype</term>
<term>Phenotype data</term>
<term>Polyposis</term>
<term>Privacy issues</term>
<term>Prostate cancer</term>
<term>Putative</term>
<term>Reference sequence</term>
<term>Repair enzyme</term>
<term>Sampson</term>
<term>Silico</term>
<term>Silico analyses</term>
<term>Silico test data</term>
<term>Software</term>
<term>Somatic mutations</term>
<term>Splice</term>
<term>Splice variant</term>
<term>Submitter</term>
<term>Supp</term>
<term>Test results</term>
<term>Transcript</term>
<term>Transcript alpha5</term>
<term>Uncertain significance</term>
<term>Unique variants</term>
<term>Unpublished data</term>
<term>Variant</term>
<term>Variant pathogenicity</term>
<term>Zhang</term>
</keywords>
<keywords scheme="Wicri" type="topic" xml:lang="fr">
<term>Base de données</term>
<term>Génétique</term>
<term>Logiciel</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front>
<div type="abstract" xml:lang="en">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.536A>G/p.Tyr179Cys and c.1187G>A/p.Gly396Asp (previously c.494A>G/p.Tyr165Cys and c.1145G>A/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. Hum Mutat 31:1–11, 2010. © 2010 Wiley‐Liss, Inc.</div>
</front>
</TEI>
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<name sortKey="Ans M W, Van Den Ouweland" sort="Ans M W, Van Den Ouweland" uniqKey="Ans M W V" first="Van Den Ouweland" last="Ans M. W.">Van Den Ouweland Ans M. W.</name>
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