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Entry
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- *604933 - MutY DNA GLYCOSYLASE; MUTYH
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- OMIM
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*604933</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<nav>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<li role="presentation">
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#biochemicalFeatures">Biochemical Features</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<li role="presentation">
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/604933">Table View</a>
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</li>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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</li>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</li>
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</ul>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimFloatingLinksMenu">
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<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000132781;t=ENST00000456914" class="mim-tip-hint" title="Genome databases for vertebrates and other eukaryotic species." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/genome/gdv/browser/gene/?id=4595" class="mim-tip-hint" title="Detailed views of the complete genomes of selected organisms from vertebrates to protozoa." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Genome Viewer', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Genome Viewer</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&hgFind=omimGeneAcc&position=604933" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span class="panel-title">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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</span>
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</span>
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</div>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000132781;t=ENST00000456914" class="mim-tip-hint" title="Transcript-based views for coding and noncoding DNA." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl (MANE Select)</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_001048171,NM_001048172,NM_001048173,NM_001048174,NM_001128425,NM_001293190,NM_001293191,NM_001293192,NM_001293195,NM_001293196,NM_001350650,NM_001350651,NM_001407069,NM_001407070,NM_001407071,NM_001407072,NM_001407073,NM_001407075,NM_001407077,NM_001407078,NM_001407079,NM_001407080,NM_001407081,NM_001407082,NM_001407083,NM_001407085,NM_001407086,NM_001407087,NM_001407088,NM_001407089,NM_001407091,NM_012222,NR_146882,NR_146883,NR_176269,NR_176271,NR_176272,NR_176273,NR_176274,XM_011541497,XM_011541502,XM_011541503,XM_017001332,XM_017001333,XM_047421191,XM_047421192,XM_047421193,XM_047421194,XM_047421197,XM_047421198,XM_047421199,XM_047421201,XM_047421202,XM_047421203,XM_047421204" class="mim-tip-hint" title="A collection of genome, gene, and transcript sequence data from several sources, including GenBank, RefSeq." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI RefSeq', 'domain': 'ncbi.nlm.nih'})">NCBI RefSeq</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_001048174" class="mim-tip-hint" title="A collection of genome, gene, and transcript sequence data from several sources, including GenBank, RefSeq." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI RefSeq (MANE)', 'domain': 'ncbi.nlm.nih'})">NCBI RefSeq (MANE Select)</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&hgFind=omimGeneAcc&position=604933" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimProtein">
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<span class="panel-title">
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<span class="small">
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<a href="#mimProteinLinksFold" id="mimProteinLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimProteinLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Protein
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</a>
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</span>
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</span>
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</div>
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<div id="mimProteinLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://hprd.org/summary?hprd_id=05380&isoform_id=05380_1&isoform_name=Isoform_1" class="mim-tip-hint" title="The Human Protein Reference Database; manually extracted and visually depicted information on human proteins." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HPRD', 'domain': 'hprd.org'})">HPRD</a></div>
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<div><a href="https://www.proteinatlas.org/search/MUTYH" class="mim-tip-hint" title="The Human Protein Atlas contains information for a large majority of all human protein-coding genes regarding the expression and localization of the corresponding proteins based on both RNA and protein data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HumanProteinAtlas', 'domain': 'proteinatlas.org'})">Human Protein Atlas</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/protein/1458228,5837948,6691521,6691523,6691525,6691527,6691529,6691531,6691533,6691535,6691537,6691539,6912520,13112009,19909913,21902514,48428272,115298650,115298652,115298654,119627396,119627397,119627398,119627399,119627400,119627401,119627402,119627403,119627404,119627405,119627406,190358497,194375778,311347978,311347979,311347980,311347981,311347982,311347984,311347985,311347986,311347987,311347988,311347990,311347991,311347992,311347993,311347994,311347996,311347997,311347998,311347999,311348000,311348002,311348003,311348004,311348005,311348006,311348008,311348009,311348010,311348011,311348012,311348014,311348015,311348016,311348017,311348018,311348020,311348021,311348022,311348023,311348024,311348026,311348027,311348028,311348029,311348030,311348032,311348033,311348034,311348035,311348036,311348038,311348039,311348040,311348041,311348042,311348044,311348045,311348046,311348047,311348048,311348050,311348051,311348052,311348053,311348054,311348056,311348057,311348058,311348059,311348060,311348062,311348063,311348064,311348065,311348066,311348068,311348069,311348070,311348071,311348072,311348074,311348075,311348076,311348077,311348078,311348080,311348081,311348082,311348083,311348084,311348086,311348087,311348088,311348089,311348090,311348092,311348093,311348094,311348095,311348096,311348098,311348099,311348100,311348101,311348102,311348104,311348105,311348106,311348107,311348108,311348110,311348111,311348112,311348113,311348114,311348116,311348117,311348118,311348119,311348120,311348122,311348123,311348124,311348125,311348126,311348128,311348129,311348130,311348131,311348132,311348134,311348135,311348136,311348137,311348138,311348140,311348141,311348142,311348143,311348144,311348146,311348147,311348148,311348149,311348150,311348152,311348153,311348154,311348155,311348156,311348158,311348159,311348160,311348161,311348162,311348164,311348165,311348166,311348167,311348168,311348170,311348171,311348172,311348173,311348174,311348176,311348177,311348178,311348179,311348180,311348182,311348183,311348184,311348185,311348186,311348188,311348189,311348190,311348191,311348192,311348194,311348195,311348196,311348197,311348198,311348200,311348201,311348202,311348203,311348204,311348206,311348207,311348208,311348209,311348210,311348212,311348213,311348214,311348215,311348216,645066005,645066007,645066009,645066013,645066016,767904421,767904431,767904433,957949810,957949813,1034558722,1034558725,1183596750,1183596752,1388694392,1388694394,1783658046,2217267645,2217267647,2217267649,2217267651,2217267662,2217267664,2217267666,2217267671,2217267673,2217267675,2217267677,2244985447,2244985484,2244985494,2244985515,2244985523,2244985553,2244985588,2244985596,2244985626,2244985637,2244985903,2244986047,2244986451,2244986473,2244986482,2244986523,2244986527,2244986594,2244986633,2462509427,2462509429,2462509431,2462509433,2462509435,2462509437,2462509439,2462509441,2462509443,2462509445,2462509447,2462509449,2462509451,2462509453,2462509455" class="mim-tip-hint" title="NCBI protein data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Protein', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Protein</a></div>
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<div><a href="https://www.uniprot.org/uniprotkb/Q9UIF7" class="mim-tip-hint" title="Comprehensive protein sequence and functional information, including supporting data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UniProt', 'domain': 'uniprot.org'})">UniProt</a></div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGeneInfo">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGeneInfoLinksFold" id="mimGeneInfoLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimGeneInfoLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Gene Info</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimGeneInfoLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="http://biogps.org/#goto=genereport&id=4595" class="mim-tip-hint" title="The Gene Portal Hub; customizable portal of gene and protein function information." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'BioGPS', 'domain': 'biogps.org'})">BioGPS</a></div>
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<div><a href="https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000132781;t=ENST00000456914" class="mim-tip-hint" title="Orthologs, paralogs, regulatory regions, and splice variants." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl</a></div>
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<div><a href="https://www.genecards.org/cgi-bin/carddisp.pl?gene=MUTYH" class="mim-tip-hint" title="The Human Genome Compendium; web-based cards integrating automatically mined information on human genes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GeneCards', 'domain': 'genecards.org'})">GeneCards</a></div>
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<div><a href="http://amigo.geneontology.org/amigo/search/annotation?q=MUTYH" class="mim-tip-hint" title="Terms, defined using controlled vocabulary, representing gene product properties (biologic process, cellular component, molecular function) across species." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GeneOntology', 'domain': 'amigo.geneontology.org'})">Gene Ontology</a></div>
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<div><a href="https://www.genome.jp/dbget-bin/www_bget?hsa+4595" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
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<dd><a href="http://v1.marrvel.org/search/gene/MUTYH" class="mim-tip-hint" title="Model organism Aggregated Resources for Rare Variant ExpLoration." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MARRVEL', 'domain': 'marrvel.org'})">MARRVEL</a></dd>
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<dd><a href="https://monarchinitiative.org/NCBIGene:4595" class="mim-tip-hint" title="Monarch Initiative." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Monarch', 'domain': 'monarchinitiative.org'})">Monarch</a></dd>
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<div><a href="https://www.ncbi.nlm.nih.gov/gene/4595" class="mim-tip-hint" title="Gene-specific map, sequence, expression, structure, function, citation, and homology data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Gene', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Gene</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgGene?db=hg38&hgg_chrom=chr1&hgg_gene=ENST00000710952.2&hgg_start=45329242&hgg_end=45340440&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/gene-dosage/HGNC:7527" class="mim-tip-hint" title="A ClinGen curated resource of genes and regions of the genome that are dosage sensitive and should be targeted on a cytogenomic array." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Dosage', 'domain': 'dosage.clinicalgenome.org'})">ClinGen Dosage</a></div>
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:7527" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></div>
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<div><a href="https://medlineplus.gov/genetics/gene/mutyh" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=604933[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimVariation">
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<span class="panel-title">
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<span class="small">
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<a href="#mimVariationLinksFold" id="mimVariationLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimVariationLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">▼</span> Variation
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</a>
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</span>
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</span>
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</div>
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<div id="mimVariationLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ncbi.nlm.nih.gov/clinvar?term=604933[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://www.deciphergenomics.org/gene/MUTYH/overview/clinical-info" class="mim-tip-hint" title="DECIPHER" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'DECIPHER', 'domain': 'DECIPHER'})">DECIPHER</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000132781" class="mim-tip-hint" title="The Genome Aggregation Database (gnomAD), Broad Institute." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'gnomAD', 'domain': 'gnomad.broadinstitute.org'})">gnomAD</a></div>
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<div><a href="https://www.ebi.ac.uk/gwas/search?query=MUTYH" class="mim-tip-hint" title="GWAS Catalog; NHGRI-EBI Catalog of published genome-wide association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Catalog', 'domain': 'gwascatalog.org'})">GWAS Catalog </a></div>
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<div><a href="https://www.gwascentral.org/search?q=MUTYH" class="mim-tip-hint" title="GWAS Central; summary level genotype-to-phenotype information from genetic association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Central', 'domain': 'gwascentral.org'})">GWAS Central </a></div>
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<div><a href="http://www.hgmd.cf.ac.uk/ac/gene.php?gene=MUTYH" class="mim-tip-hint" title="Human Gene Mutation Database; published mutations causing or associated with human inherited disease; disease-associated/functional polymorphisms." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGMD', 'domain': 'hgmd.cf.ac.uk'})">HGMD</a></div>
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<div><a href="http://www.LOVD.nl/MUTYH" class="mim-tip-hint" title="A gene-specific database of variation." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">Locus Specific DBs</a></div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=MUTYH&upstreamSize=0&downstreamSize=0&x=0&y=0" class="mim-tip-hint" title="National Heart, Lung, and Blood Institute Exome Variant Server." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NHLBI EVS', 'domain': 'evs.gs.washington.edu'})">NHLBI EVS</a></div>
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<div><a href="https://www.pharmgkb.org/gene/PA31328" class="mim-tip-hint" title="Pharmacogenomics Knowledge Base; curated and annotated information regarding the effects of human genetic variations on drug response." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PharmGKB', 'domain': 'pharmgkb.org'})">PharmGKB</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/gene/HGNC:7527" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:1917853" class="mim-tip-hint" title="International Mouse Phenotyping Consortium." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'IMPC', 'domain': 'knockoutmouse.org'})">IMPC</a></div>
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<div><a href="http://v1.marrvel.org/search/gene/MUTYH#HomologGenesPanel" class="mim-tip-hint" title="Model organism Aggregated Resources for Rare Variant ExpLoration." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MARRVEL', 'domain': 'marrvel.org'})">MARRVEL</a></div>
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<div><a href="http://www.informatics.jax.org/marker/MGI:1917853" class="mim-tip-hint" title="Mouse Genome Informatics; international database resource for the laboratory mouse, including integrated genetic, genomic, and biological data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Gene', 'domain': 'informatics.jax.org'})">MGI Mouse Gene</a></div>
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<div><a href="https://www.mmrrc.org/catalog/StrainCatalogSearchForm.php?search_query=" class="mim-tip-hint" title="Mutant Mouse Resource & Research Centers." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MMRRC', 'domain': 'mmrrc.org'})">MMRRC</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gene/4595/ortholog/" class="mim-tip-hint" title="Orthologous genes at NCBI." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Orthologs', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Orthologs</a></div>
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<div><a href="https://www.orthodb.org/?ncbi=4595" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-081104-193" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:4595" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
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<div><a href="https://reactome.org/content/query?q=MUTYH&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 254878006<br />
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">ICD+</a>
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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604933
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</span>
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</span>
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</div>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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MutY DNA GLYCOSYLASE; MUTYH
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
|
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</span>
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</p>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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MutY, E. COLI, HOMOLOG OF<br />
|
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MYH
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
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<p>
|
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<span class="mim-text-font">
|
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=MUTYH" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">MUTYH</a></em></strong>
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</span>
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</p>
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</div>
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<div>
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<a id="cytogeneticLocation" class="mim-anchor"></a>
|
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<p>
|
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<span class="mim-text-font">
|
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<strong>
|
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<em>
|
|
Cytogenetic location: <a href="/geneMap/1/554?start=-3&limit=10&highlight=554">1p34.1</a>
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|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr1:45329242-45340440&dgv=pack&knownGene=pack&omimGene=pack" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">1:45,329,242-45,340,440</a> </span>
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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Phenotype <br /> MIM number
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<a href="/entry/613659"> 613659 </a>
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PheneGene Graphics <span class="caret"></span>
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<li><a href="/graph/linear/604933" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/604933" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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<p>Base excision repair (BER) protects against damage to DNA from reactive oxygen species, methylation, deamination, hydroxylation, and other byproducts of cellular metabolism. MUTYH is a BER DNA glycosylase that helps protect cells against the mutagenic effects of guanine oxidation (summary by <a href="#5" class="mim-tip-reference" title="Cheadle, J. P., Sampson, J. R. <strong>Exposing the MYtH about base excision repair and human inherited disease.</strong> Hum. Molec. Genet. 12: R159-R165, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12915454/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12915454</a>] [<a href="https://doi.org/10.1093/hmg/ddg259" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12915454">Cheadle and Sampson, 2003</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12915454" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>The E. coli mutY and mutM (OGG1; <a href="/entry/601982">601982</a>) glycosylases work together to prevent mutations from certain types of oxidative damage, in particular the oxidized guanine lesion 8-oxodG. To identify sequences encoding proteins homologous to E. mutY, <a href="#18" class="mim-tip-reference" title="Slupska, M. M., Baikalov, C., Luther, W. M., Chiang, J.-H., Wei, Y.-F., Miller, J. H. <strong>Cloning and sequencing a human homolog (hMYH) of the Escherichia coli mutY gene whose function is required for the repair of oxidative DNA damage.</strong> J. Bacteriol. 178: 3885-3892, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8682794/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8682794</a>] [<a href="https://doi.org/10.1128/jb.178.13.3885-3892.1996" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8682794">Slupska et al. (1996)</a> screened a human cDNA sequence database. They identified an EST which was then used to probe a human BAC library to isolate genomic human mutY, which they referred to as MYH, also symbolized MUTYH. They also isolated a full-length cDNA clone from a human brain tissue cDNA library. The gene encodes a 535-amino acid protein with 41% identity to E. coli mutY. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8682794" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#11" class="mim-tip-reference" title="Lu, A.-L., Fawcett, W. P. <strong>Characterization of the recombinant MutY homolog, an adenine DNA glycosylase, from the yeast Schizosaccharomyces pombe.</strong> J. Biol. Chem. 273: 25098-25105, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9737967/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9737967</a>] [<a href="https://doi.org/10.1074/jbc.273.39.25098" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9737967">Lu and Fawcett (1998)</a> isolated a full-length Schizosaccharomyces pombe MYH cDNA. The cDNA encodes a 461-amino acid protein that shares 31% amino acid identity with human MYH and 28% identity with E. coli mutY. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9737967" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<br />
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<a id="geneStructure" class="mim-anchor"></a>
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<h4 href="#mimGeneStructureFold" id="mimGeneStructureToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<strong>Gene Structure</strong>
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<p><a href="#18" class="mim-tip-reference" title="Slupska, M. M., Baikalov, C., Luther, W. M., Chiang, J.-H., Wei, Y.-F., Miller, J. H. <strong>Cloning and sequencing a human homolog (hMYH) of the Escherichia coli mutY gene whose function is required for the repair of oxidative DNA damage.</strong> J. Bacteriol. 178: 3885-3892, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8682794/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8682794</a>] [<a href="https://doi.org/10.1128/jb.178.13.3885-3892.1996" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8682794">Slupska et al. (1996)</a> determined that the human MUTYH gene has 16 exons and encompasses 7.1 kb. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8682794" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>Mapping</strong>
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<span class="mim-text-font">
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<p>By fluorescence in situ hybridization analysis using the human MUTYH genomic clone, <a href="#18" class="mim-tip-reference" title="Slupska, M. M., Baikalov, C., Luther, W. M., Chiang, J.-H., Wei, Y.-F., Miller, J. H. <strong>Cloning and sequencing a human homolog (hMYH) of the Escherichia coli mutY gene whose function is required for the repair of oxidative DNA damage.</strong> J. Bacteriol. 178: 3885-3892, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8682794/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8682794</a>] [<a href="https://doi.org/10.1128/jb.178.13.3885-3892.1996" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8682794">Slupska et al. (1996)</a> mapped the MUTYH gene to chromosome 1p34.3-1p32.1. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8682794" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#13" class="mim-tip-reference" title="McGoldrick, J. P., Yeh, Y.-C., Solomon, M., Essigmann, J. M., Lu, A.-L. <strong>Characterization of a mammalian homolog of the Escherichia coli MutY mismatch repair protein.</strong> Molec. Cell. Biol. 15: 989-996, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7823963/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7823963</a>] [<a href="https://doi.org/10.1128/MCB.15.2.989" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7823963">McGoldrick et al. (1995)</a> identified an A/G mismatch-nicking endonuclease, MYH, in nuclear extracts from calf thymus and human HeLa cells. Western blot analysis using antibodies against the E. coli mutY protein detected a 65-kD band in calf and HeLa cell nuclear extracts. Preincubation of calf thymus nuclear extracts with E. coli anti-mutY antibody decreased the A/G nicking activity in a dose-dependent manner. Calf MYH has both nicking and glycosylase activity and is active at A/G, A/GO, and A/C mismatches, showing specificity similar to that of E. coli mutY. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7823963" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#11" class="mim-tip-reference" title="Lu, A.-L., Fawcett, W. P. <strong>Characterization of the recombinant MutY homolog, an adenine DNA glycosylase, from the yeast Schizosaccharomyces pombe.</strong> J. Biol. Chem. 273: 25098-25105, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9737967/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9737967</a>] [<a href="https://doi.org/10.1074/jbc.273.39.25098" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9737967">Lu and Fawcett (1998)</a> found that recombinant S. pombe MYH has glycosylase and nicking activities and is active at A/G and A/GO sites, similar to E. coli mutY. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9737967" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By examining gene expression profiles, <a href="#8" class="mim-tip-reference" title="Fry, R. C., Svensson, J. P., Valiathan, C., Wang, E., Hogan, B. J., Bhattacharya, S., Bugni, J. M., Whittaker, C. A., Samson, L. D. <strong>Genomic predictors of interindividual differences in response to DNA damaging agents.</strong> Genes Dev. 22: 2621-2626, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18805990/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18805990</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18805990[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1101/gad.1688508" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18805990">Fry et al. (2008)</a> showed that elevated MYH expression was associated with increased sensitivity to MNNG, a DNA alkylating agent. Knockdown of MYH expression reduced the sensitivity of a human lymphoblast cell line to MNNG-induced cell killing. Furthermore, Myh -/- mouse embryonic fibroblasts were much less sensitive than wildtype fibroblasts to MNNG-induced cell killing. Analysis of genes that were differentially expressed between cell lines with the highest and lowest MNNG sensitivities integrated MYH into a protein network related to human cancer and tumorigenesis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18805990" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="#7" class="mim-tip-reference" title="Fromme, J. C., Banerjee, A., Huang, S. J., Verdine, G. L. <strong>Structural basis for removal of adenine mispaired with 8-oxoguanine by MutY adenine DNA glycosylase.</strong> Nature 427: 652-656, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14961129/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14961129</a>] [<a href="https://doi.org/10.1038/nature02306" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14961129">Fromme et al. (2004)</a> reported the use of disulfide crosslinking to obtain high resolution crystal structures of MutY-DNA lesion-recognition complexes. These structures revealed the basis for recognizing both lesions in the A-oxoG pair and for catalyzing removal of the adenine base. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14961129" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><strong><em>Familial Adenomatous Polyposis 2</em></strong></p><p>
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<a href="#1" class="mim-tip-reference" title="Al-Tassan, N., Chmiel, N. H., Maynard, J., Fleming, N., Livingston, A. L., Williams, G. T., Hodges, A. K., Davies, D. R., David, S. S., Sampson, J. R., Cheadle, J. P. <strong>Inherited variants of MYH associated with somatic G:C-T:A mutations in colorectal tumors.</strong> Nature Genet. 30: 227-232, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11818965/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11818965</a>] [<a href="https://doi.org/10.1038/ng828" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11818965">Al-Tassan et al. (2002)</a> stated that inherited defects of base excision repair had not been associated with any human genetic disorder, although mutations of the genes mutM and mutY, which function in E. coli base excision repair, lead to increased transversions of G:C to T:A (<a href="#14" class="mim-tip-reference" title="Nghiem, Y., Cabrera, M., Cupples, C. G., Miller, J. H. <strong>The mutY gene: a mutator locus in Escherichia coli that generates G:C to T:A transversions.</strong> Proc. Nat. Acad. Sci. 85: 2709-2713, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3128795/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3128795</a>] [<a href="https://doi.org/10.1073/pnas.85.8.2709" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3128795">Nghiem et al., 1988</a>; <a href="#19" class="mim-tip-reference" title="Thomas, D., Scot, A. D., Barbey, R., Padula, M., Boiteux, S. <strong>Inactivation of OGG1 increases the incidence of G:C to T:A transversions in Saccharomyces cerevisiae: evidence for endogenous oxidative damage to DNA in eukaryotic cells.</strong> Molec. Gen. Genet. 254: 171-178, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9108279/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9108279</a>] [<a href="https://doi.org/10.1007/s004380050405" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9108279">Thomas et al., 1997</a>). <a href="#1" class="mim-tip-reference" title="Al-Tassan, N., Chmiel, N. H., Maynard, J., Fleming, N., Livingston, A. L., Williams, G. T., Hodges, A. K., Davies, D. R., David, S. S., Sampson, J. R., Cheadle, J. P. <strong>Inherited variants of MYH associated with somatic G:C-T:A mutations in colorectal tumors.</strong> Nature Genet. 30: 227-232, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11818965/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11818965</a>] [<a href="https://doi.org/10.1038/ng828" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11818965">Al-Tassan et al. (2002)</a> studied a British family in which 3 sibs were affected with familial adenomatous polyposis-2 (FAP2; <a href="/entry/608456">608456</a>). There was no clear pathogenic change in the APC gene (<a href="/entry/611731">611731</a>). They showed that 11 tumors from the 3 affected sibs contained 18 somatic inactivating mutations of APC and that 15 of these mutations were G:C-T:A transversions--a significantly greater proportion than is found in sporadic tumors or in tumors associated with familial adenomatous polyposis. Analysis of the human homolog of mutY, MYH, showed that the sibs were compound heterozygous for the nonconservative missense variants tyr165-to-cys (Y165C; <a href="#0001">604933.0001</a>) and gly382-to-asp (G382D; <a href="#0002">604933.0002</a>). These mutations affect residues that are conserved in mutY of E. coli. Tyrosine-82 is located in the pseudo-helix-hairpin-helix motif and is predicted to function in mismatch specificity. Assays of adenine glycosylase activity of the tyr82-to-cys and gly253-to-asp mutant proteins with 8-oxoG:A and G:A substrates showed that their activity was reduced significantly. The findings linked the inherited variants in MYH to the pattern of somatic APC mutation in the British family and implicated defective base excision repair in predisposition to tumors in humans. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3128795+9108279+11818965" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#9" class="mim-tip-reference" title="Jones, S., Emmerson, P., Maynard, J., Best, J. M., Jordan, S., Williams, G. T., Sampson, J. R., Cheadle, J. P. <strong>Biallelic germline mutations in MYH predispose to multiple colorectal adenoma and somatic G:C-to-T:A mutations.</strong> Hum. Molec. Genet. 11: 2961-2967, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12393807/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12393807</a>] [<a href="https://doi.org/10.1093/hmg/11.23.2961" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12393807">Jones et al. (2002)</a> tested 21 patients in the United Kingdom who had multiple colonic adenomas and found biallelic MYH mutations in 7, all of whom were of Welsh, Indian, or Pakistani origin. They found that patients with origins on the Indian subcontinent carried 1 of 2 novel nonsense mutations (<a href="#0004">604933.0004</a>-<a href="#0005">604933.0005</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12393807" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#17" class="mim-tip-reference" title="Sieber, O. M., Lipton, L., Crabtree, M., Heinimann, K., Fidalgo, P., Phillips, R. K. S., Bisgaard, M.-L., Orntoft, T. F., Aaltonen, L. A., Hodgson, S. V., Thomas, H. J. W., Tomlinson, I. P. M. <strong>Multiple colorectal adenomas, classic adenomatous polyposis, and germ-line mutations in MYH.</strong> New Eng. J. Med. 348: 791-799, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12606733/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12606733</a>] [<a href="https://doi.org/10.1056/NEJMoa025283" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12606733">Sieber et al. (2003)</a> screened for germline MYH mutations in 152 patients with multiple (3 to 100) colorectal adenomas and 107 APC mutation-negative probands with classic familial adenomatous polyposis (more than 100 adenomas). Six patients with multiple adenomas and 8 patients with polyposis had biallelic MYH variants. Missense and protein-truncating mutations were found, and the spectrum of mutations was very similar in the 2 groups of patients. In the tumors of carriers of biallelic mutations, all somatic APC mutations were G:C-T:A transversions. In the group with multiple adenomas, approximately one-third of patients with more than 15 adenomas had biallelic MYH mutations. In the polyposis group, no patient with biallelic MYH mutations had severe disease (more than 1,000 adenomas), but 3 had extracolonic disease (2 had duodenal polyposis and 1 had congenital hypertrophy of the retinal pigment epithelium). No desmoid tumors were reported. Mutation analysis was also performed on the MTH1 (<a href="/entry/600312">600312</a>) and OGG1 genes, but no clearly pathogenic mutations were identified. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12606733" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#12" class="mim-tip-reference" title="Marra, G., Jiricny, J. <strong>Multiple colorectal adenomas--is their number up? (Editorial)</strong> New Eng. J. Med. 348: 845-847, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12606740/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12606740</a>] [<a href="https://doi.org/10.1056/NEJMe030002" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12606740">Marra and Jiricny (2003)</a> commented on the remarkable fact that of the 36 germline mutations identified in biallelic configurations in white European patients in the studies of <a href="#1" class="mim-tip-reference" title="Al-Tassan, N., Chmiel, N. H., Maynard, J., Fleming, N., Livingston, A. L., Williams, G. T., Hodges, A. K., Davies, D. R., David, S. S., Sampson, J. R., Cheadle, J. P. <strong>Inherited variants of MYH associated with somatic G:C-T:A mutations in colorectal tumors.</strong> Nature Genet. 30: 227-232, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11818965/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11818965</a>] [<a href="https://doi.org/10.1038/ng828" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11818965">Al-Tassan et al. (2002)</a>, <a href="#9" class="mim-tip-reference" title="Jones, S., Emmerson, P., Maynard, J., Best, J. M., Jordan, S., Williams, G. T., Sampson, J. R., Cheadle, J. P. <strong>Biallelic germline mutations in MYH predispose to multiple colorectal adenoma and somatic G:C-to-T:A mutations.</strong> Hum. Molec. Genet. 11: 2961-2967, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12393807/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12393807</a>] [<a href="https://doi.org/10.1093/hmg/11.23.2961" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12393807">Jones et al. (2002)</a>, and <a href="#17" class="mim-tip-reference" title="Sieber, O. M., Lipton, L., Crabtree, M., Heinimann, K., Fidalgo, P., Phillips, R. K. S., Bisgaard, M.-L., Orntoft, T. F., Aaltonen, L. A., Hodgson, S. V., Thomas, H. J. W., Tomlinson, I. P. M. <strong>Multiple colorectal adenomas, classic adenomatous polyposis, and germ-line mutations in MYH.</strong> New Eng. J. Med. 348: 791-799, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12606733/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12606733</a>] [<a href="https://doi.org/10.1056/NEJMoa025283" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12606733">Sieber et al. (2003)</a>, 31 (86%) resulted in the amino acid substitutions Y165C and G382D, and 14 of 18 patients with these substitutions (78%) had either a homozygous or compound heterozygous configuration. <a href="#12" class="mim-tip-reference" title="Marra, G., Jiricny, J. <strong>Multiple colorectal adenomas--is their number up? (Editorial)</strong> New Eng. J. Med. 348: 845-847, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12606740/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12606740</a>] [<a href="https://doi.org/10.1056/NEJMe030002" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12606740">Marra and Jiricny (2003)</a> also diagrammed the repair of mutations involving 8-oxoguanine in human cells by the proteins MTH1, OGG1, and MYH. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12606733+12606740+11818965+12393807" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Among 614 families recorded in 6 regional registers of polyposis in the U.K., <a href="#16" class="mim-tip-reference" title="Sampson, J. R., Dolwani, S., Jones, S., Eccles, D., Ellis, A., Evans, D. G., Frayling, I., Jordan, S., Maher, E. R., Mak, T., Maynard, J., Pigatto, F., Shaw, J., Cheadle, J. P. <strong>Autosomal recessive colorectal adenomatous polyposis due to inherited mutations of MYH.</strong> Lancet 362: 39-41, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12853198/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12853198</a>] [<a href="https://doi.org/10.1016/S0140-6736(03)13805-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12853198">Sampson et al. (2003)</a> identified 111 with neither dominant transmission nor evidence of APC mutation. Molecular genetic analysis showed that 25 had biallelic mutations of the MYH gene. The data showed that MYH polyposis can be transmitted as an autosomal recessive trait, requiring a change in genetic counseling, testing, and surveillance. <a href="#16" class="mim-tip-reference" title="Sampson, J. R., Dolwani, S., Jones, S., Eccles, D., Ellis, A., Evans, D. G., Frayling, I., Jordan, S., Maher, E. R., Mak, T., Maynard, J., Pigatto, F., Shaw, J., Cheadle, J. P. <strong>Autosomal recessive colorectal adenomatous polyposis due to inherited mutations of MYH.</strong> Lancet 362: 39-41, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12853198/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12853198</a>] [<a href="https://doi.org/10.1016/S0140-6736(03)13805-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12853198">Sampson et al. (2003)</a> recommended that genetic analysis of MYH should be offered to patients with a phenotype resembling familial adenomatous polyposis (FAP) or attenuated FAP, when no clear evidence of vertical transmission is recorded. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12853198" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Baglioni, S., Melean, G., Gensini, F., Santucci, M., Scatizzi, M., Papi, L., Genuardi, M. <strong>A kindred with MYH-associated polyposis and pilomatricomas.</strong> Am. J. Med. Genet. 134A: 212-214, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15690400/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15690400</a>] [<a href="https://doi.org/10.1002/ajmg.a.30585" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15690400">Baglioni et al. (2005)</a> reported 2 sibs, born from consanguineous parents, who were found to be homozygous for a frameshift mutation in the MYH gene (<a href="#0008">604933.0008</a>). The propositus presented with a low number of colonic lesions and an early-onset colorectal cancer. Both sibs had a childhood history of pilomatricomas (<a href="/entry/132600">132600</a>), which are benign tumors derived from hair follicles. Pilomatricomas have been associated with mutation in the CTNNB1 gene (<a href="/entry/116806">116806</a>), which is the site of mutations that predispose to colorectal cancer. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15690400" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#6" class="mim-tip-reference" title="Farrington, S. M., Tenesa, A., Barnetson, R., Wiltshire, A., Prendergast, J., Porteous, M., Campbell, H., Dunlop, M. G. <strong>Germline susceptibility to colorectal cancer due to base-excision repair gene defects.</strong> Am. J. Hum. Genet. 77: 112-119, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15931596/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15931596</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15931596[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/431213" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15931596">Farrington et al. (2005)</a> presented a large, systematically collected population-based association study (2,239 cases; 1,845 controls) that explored the contribution to colorectal cancer incidence of inherited defects in base-excision repair (BER) genes. They showed that biallelic MUTYH defects impart a 93-fold excess risk of colorectal cancer, which accounted for 0.8% of cases aged less than 55 years and 0.54% of the entire cohort. Penetrance of homozygous carriers was almost complete by age 60 years. Significantly more biallelic carriers had coexisting adenomatous polyps. However, notably, 36% of biallelic carriers had no polyps. Three patients with heterozygous MUTYH defects carried monoallelic mutations in other BER genes: OGG1 (<a href="/entry/601982">601982</a>) and MTH1 (<a href="/entry/600312">600312</a>). Recessive inheritance accounted for the elevated risk for those aged less than 55 years. However, there was also a 1.68-fold excess risk for heterozygous carriers aged more than 55 years, with a population attributable risk in this age group of 0.93%. These data provided strong evidence for a causative role of BER defects in colorectal cancer etiology and showed that heterozygous MUTYH mutations predispose to colorectal cancer later in life. These findings, the authors suggested, have clinical relevance for BER gene testing for patients with colorectal cancer and for genetic counseling of their relatives. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15931596" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#20" class="mim-tip-reference" title="Webb, E. L., Rudd, M. F., Houlston, R. S. <strong>Colorectal cancer risk in monoallelic carriers of MYH variants. (Letter)</strong> Am. J. Hum. Genet. 79: 768-771, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16960817/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16960817</a>] [<a href="https://doi.org/10.1086/507912" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16960817">Webb et al. (2006)</a> stated that they believed that the assertion that monoallelic (heterozygous) carrier status for MYH variants confers an elevated risk of colorectal cancer was unsupported by available data. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16960817" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#5" class="mim-tip-reference" title="Cheadle, J. P., Sampson, J. R. <strong>Exposing the MYtH about base excision repair and human inherited disease.</strong> Hum. Molec. Genet. 12: R159-R165, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12915454/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12915454</a>] [<a href="https://doi.org/10.1093/hmg/ddg259" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12915454">Cheadle and Sampson (2003)</a> reviewed the molecular pathology and biochemistry of MYH colonic polyposis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12915454" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Other Associations</em></strong></p><p>
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Studies by <a href="#2" class="mim-tip-reference" title="Al-Tassan, N., Eisen, T., Maynard, J., Bridle, H., Shah, B., Fleishmann, C., Sampson, J. R., Cheadle, J. P., Houlston, R. S. <strong>Inherited variants in MYH are unlikely to contribute to the risk of lung carcinoma.</strong> Hum. Genet. 114: 207-210, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14579148/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14579148</a>] [<a href="https://doi.org/10.1007/s00439-003-1033-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14579148">Al-Tassan et al. (2004)</a> appeared to exonerate the MYH gene as a predisposing factor in lung cancer. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14579148" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Increased oxygen free radicals produced in gastric mucosa by H. pylori (see <a href="/entry/600263">600263</a>) induce DNA damage and lead to dysplasia and gastric cancers (<a href="/entry/137215">137215</a>); however, only a small percentage of individuals who carry H. pylori develop gastric cancer, indicating that other factors are involved. <a href="#10" class="mim-tip-reference" title="Kim, C. J., Cho, Y. G., Park, C. H., Kim, S. Y., Nam, S. W., Lee, S. H., Yoo, N. J., Lee, J. Y., Park, W. S. <strong>Genetic alterations of the MYH gene in gastric cancer.</strong> Oncogene 23: 6820-6822, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15273732/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15273732</a>] [<a href="https://doi.org/10.1038/sj.onc.1207574" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15273732">Kim et al. (2004)</a> screened a set of 95 sporadic gastric cancers for mutations and allele loss of the DNA glycosylase MYH gene, which excises adenine misincorporated opposite unrepaired 8-oxoG. Two of 95 cancers had biallelic mutations of the MYH gene with somatic missense mutation of 1 allele and loss of the remaining allele. The mutations, pro391 to ser (P391S; <a href="#0006">604933.0006</a>) and gln400 to arg (Q400R; <a href="#0007">604933.0007</a>), occurred in exon 13, which encodes the NUDIX (nucleoside diphosphate linked to some other moiety X) hydrolase domain (codons 366-497) of the gene. The patients were H. pylori-positive and the tumors were of advanced intestinal-type gastric cancer with lymph node metastasis. In addition, 4 (17.4%) of 23 informative cases showed allele loss at the MYH locus. <a href="#10" class="mim-tip-reference" title="Kim, C. J., Cho, Y. G., Park, C. H., Kim, S. Y., Nam, S. W., Lee, S. H., Yoo, N. J., Lee, J. Y., Park, W. S. <strong>Genetic alterations of the MYH gene in gastric cancer.</strong> Oncogene 23: 6820-6822, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15273732/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15273732</a>] [<a href="https://doi.org/10.1038/sj.onc.1207574" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15273732">Kim et al. (2004)</a> concluded that somatic mutations of the base excision repair gene MYH contribute to the development of a subset of sporadic gastric cancers. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15273732" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>ALLELIC VARIANTS (<a href="/help/faq#1_4"></strong>
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<strong>9 Selected Examples</a>):</strong>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=604933[MIM]" class="btn btn-default mim-tip-hint" role="button" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs34612342 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs34612342;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs34612342?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs34612342" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs34612342" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In a Welsh family in which 3 sibs had familial adenomatous polyposis-2 (FAP2; <a href="/entry/608456">608456</a>), <a href="#1" class="mim-tip-reference" title="Al-Tassan, N., Chmiel, N. H., Maynard, J., Fleming, N., Livingston, A. L., Williams, G. T., Hodges, A. K., Davies, D. R., David, S. S., Sampson, J. R., Cheadle, J. P. <strong>Inherited variants of MYH associated with somatic G:C-T:A mutations in colorectal tumors.</strong> Nature Genet. 30: 227-232, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11818965/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11818965</a>] [<a href="https://doi.org/10.1038/ng828" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11818965">Al-Tassan et al. (2002)</a> could find no clear germline pathogenic change in the APC gene. However, they showed that 11 tumors from the 3 affected sibs contained 18 somatic inactivating mutations of APC and that 15 of these mutations were G:C-T:A transversions--a significantly greater proportion than is found in sporadic tumors or in tumors associated with familial adenomatous polyposis. Analysis of the mutY gene showed that the affected sibs were compound heterozygous for 2 missense variants, tyr165 to cys (Y165C) and gly382 to asp (G382D; <a href="#0002">604933.0002</a>). Thus, defective base excision repair was implicated by these findings in predisposition to tumors in humans. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11818965" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#17" class="mim-tip-reference" title="Sieber, O. M., Lipton, L., Crabtree, M., Heinimann, K., Fidalgo, P., Phillips, R. K. S., Bisgaard, M.-L., Orntoft, T. F., Aaltonen, L. A., Hodgson, S. V., Thomas, H. J. W., Tomlinson, I. P. M. <strong>Multiple colorectal adenomas, classic adenomatous polyposis, and germ-line mutations in MYH.</strong> New Eng. J. Med. 348: 791-799, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12606733/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12606733</a>] [<a href="https://doi.org/10.1056/NEJMoa025283" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12606733">Sieber et al. (2003)</a> found the germline Y165C mutation in homozygous or compound heterozygous state in 5 of 12 patients from the UK with multiple adenomas. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12606733" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="Barnetson, R. A., Devlin, L., Miller, J., Farrington, S. M., Slater, S., Drake, A. C., Campbell, H., Dunlop, M. G., Porteous, M. E. <strong>Germline mutation prevalence in the base excision repair gene, MYH, in patients with endometrial cancer.</strong> Clin. Genet. 72: 551-555, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17956577/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17956577</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2007.00900.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17956577">Barnetson et al. (2007)</a> reported a patient with endometrial adenocarcinoma (see <a href="/entry/608089">608089</a>) and sebaceous carcinoma of the face who was compound heterozygous for the Y165C and G382D mutations. Colonic adenomas were not reported, but a paternal aunt reportedly had colorectal cancer in her thirties. <a href="#4" class="mim-tip-reference" title="Barnetson, R. A., Devlin, L., Miller, J., Farrington, S. M., Slater, S., Drake, A. C., Campbell, H., Dunlop, M. G., Porteous, M. E. <strong>Germline mutation prevalence in the base excision repair gene, MYH, in patients with endometrial cancer.</strong> Clin. Genet. 72: 551-555, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17956577/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17956577</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2007.00900.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17956577">Barnetson et al. (2007)</a> noted that the phenotype associated with biallelic MUTYH mutations may include extracolonic manifestations, including endometrial cancer and sebaceous carcinoma, as seen in other inherited colorectal cancer syndromes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17956577" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs36053993 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs36053993;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs36053993?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs36053993" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs36053993" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000005614 OR RCV000005615 OR RCV000079501 OR RCV000115748 OR RCV000121598 OR RCV000144637 OR RCV000477907 OR RCV000493920 OR RCV000501239 OR RCV000515320 OR RCV001262769 OR RCV001574076 OR RCV001580144 OR RCV002051775 OR RCV004528084 OR RCV004785246 OR RCV004808548 OR RCV005016243" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000005614, RCV000005615, RCV000079501, RCV000115748, RCV000121598, RCV000144637, RCV000477907, RCV000493920, RCV000501239, RCV000515320, RCV001262769, RCV001574076, RCV001580144, RCV002051775, RCV004528084, RCV004785246, RCV004808548, RCV005016243" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000005614...</a>
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<p>For discussion of the gly382-to-asp (G382D) mutation in the MUTYH gene that was found in compound heterozygous state in patients with familial adenomatous polyposis-2 (FAP2; <a href="/entry/608456">608456</a>) by <a href="#1" class="mim-tip-reference" title="Al-Tassan, N., Chmiel, N. H., Maynard, J., Fleming, N., Livingston, A. L., Williams, G. T., Hodges, A. K., Davies, D. R., David, S. S., Sampson, J. R., Cheadle, J. P. <strong>Inherited variants of MYH associated with somatic G:C-T:A mutations in colorectal tumors.</strong> Nature Genet. 30: 227-232, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11818965/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11818965</a>] [<a href="https://doi.org/10.1038/ng828" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11818965">Al-Tassan et al. (2002)</a> and in a patient with endometrial adenocarcinoma (see <a href="/entry/608089">608089</a>) by <a href="#4" class="mim-tip-reference" title="Barnetson, R. A., Devlin, L., Miller, J., Farrington, S. M., Slater, S., Drake, A. C., Campbell, H., Dunlop, M. G., Porteous, M. E. <strong>Germline mutation prevalence in the base excision repair gene, MYH, in patients with endometrial cancer.</strong> Clin. Genet. 72: 551-555, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17956577/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17956577</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2007.00900.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17956577">Barnetson et al. (2007)</a>, see <a href="#0001">604933.0001</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=17956577+11818965" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#17" class="mim-tip-reference" title="Sieber, O. M., Lipton, L., Crabtree, M., Heinimann, K., Fidalgo, P., Phillips, R. K. S., Bisgaard, M.-L., Orntoft, T. F., Aaltonen, L. A., Hodgson, S. V., Thomas, H. J. W., Tomlinson, I. P. M. <strong>Multiple colorectal adenomas, classic adenomatous polyposis, and germ-line mutations in MYH.</strong> New Eng. J. Med. 348: 791-799, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12606733/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12606733</a>] [<a href="https://doi.org/10.1056/NEJMoa025283" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12606733">Sieber et al. (2003)</a> found the G382D mutation in compound heterozygous or homozygous state in 6 patients in the UK with multiple colorectal adenomas (<a href="/entry/608456">608456</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12606733" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a 45-year-old French man who was found to have 25 colorectal adenomas on colonoscopy, <a href="#15" class="mim-tip-reference" title="Rouleau, E., Zattara, H., Lefol, C., Noguchi, T., Briaux, A., Buecher, B., Bourdon, V., Sobol, H., Lidereau, R., Olschwang, S. <strong>First large rearrangement in the MUTYH gene and attenuated familial adenomatous polyposis syndrome. (Letter)</strong> Clin. Genet. 80: 301-303, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21815886/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21815886</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2011.01699.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21815886">Rouleau et al. (2011)</a> identified compound heterozygosity for G382D and a large rearrangement of the MUTYH gene resulting in the deletion of exons 3 to 16 (<a href="#0009">604933.0009</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21815886" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<span class="mim-font">
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<strong>.0003 FAMILIAL ADENOMATOUS POLYPOSIS 2</strong>
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MUTYH, 1-BP DEL, 1419C
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs146331482 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs146331482;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs146331482?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs146331482" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs146331482" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000005616" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000005616" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000005616</a>
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<p>In a female patient in the United Kingdom who was diagnosed with multiple (18) adenomas (<a href="/entry/608456">608456</a>) at age 57 years and who also had colorectal cancer and a family history of both, <a href="#17" class="mim-tip-reference" title="Sieber, O. M., Lipton, L., Crabtree, M., Heinimann, K., Fidalgo, P., Phillips, R. K. S., Bisgaard, M.-L., Orntoft, T. F., Aaltonen, L. A., Hodgson, S. V., Thomas, H. J. W., Tomlinson, I. P. M. <strong>Multiple colorectal adenomas, classic adenomatous polyposis, and germ-line mutations in MYH.</strong> New Eng. J. Med. 348: 791-799, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12606733/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12606733</a>] [<a href="https://doi.org/10.1056/NEJMoa025283" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12606733">Sieber et al. (2003)</a> identified a 1419delC frameshift mutation in codon 473 of the MUTYH gene in compound heterozygous state with a Y165C mutation (<a href="#0001">604933.0001</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12606733" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0004" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0004 FAMILIAL ADENOMATOUS POLYPOSIS 2</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<div style="float: left;">
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MUTYH, TYR90TER
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs121908380 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121908380;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs121908380?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121908380" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121908380" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000005617 OR RCV000163049 OR RCV000486820 OR RCV000661934 OR RCV001353649 OR RCV002496270" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000005617, RCV000163049, RCV000486820, RCV000661934, RCV001353649, RCV002496270" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000005617...</a>
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a Pakistani patient with multiple colorectal adenomas (FAP2; <a href="/entry/608456">608456</a>), <a href="#9" class="mim-tip-reference" title="Jones, S., Emmerson, P., Maynard, J., Best, J. M., Jordan, S., Williams, G. T., Sampson, J. R., Cheadle, J. P. <strong>Biallelic germline mutations in MYH predispose to multiple colorectal adenoma and somatic G:C-to-T:A mutations.</strong> Hum. Molec. Genet. 11: 2961-2967, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12393807/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12393807</a>] [<a href="https://doi.org/10.1093/hmg/11.23.2961" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12393807">Jones et al. (2002)</a> identified homozygosity for a 270C-A mutation in exon 3 of the MUTYH gene, resulting in a tyr90-to-ter (Y90X) substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12393807" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<div>
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<a id="0005" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0005 FAMILIAL ADENOMATOUS POLYPOSIS 2</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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<div style="float: left;">
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MUTYH, GLU466TER
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</div>
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs121908381 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121908381;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs121908381?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121908381" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121908381" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000005618 OR RCV000222872 OR RCV000235388 OR RCV001353602 OR RCV002496271 OR RCV003335015" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000005618, RCV000222872, RCV000235388, RCV001353602, RCV002496271, RCV003335015" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000005618...</a>
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In 3 patients with multiple colorectal adenomas (FAP2; <a href="/entry/608456">608456</a>) from unrelated Indian families, <a href="#9" class="mim-tip-reference" title="Jones, S., Emmerson, P., Maynard, J., Best, J. M., Jordan, S., Williams, G. T., Sampson, J. R., Cheadle, J. P. <strong>Biallelic germline mutations in MYH predispose to multiple colorectal adenoma and somatic G:C-to-T:A mutations.</strong> Hum. Molec. Genet. 11: 2961-2967, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12393807/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12393807</a>] [<a href="https://doi.org/10.1093/hmg/11.23.2961" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12393807">Jones et al. (2002)</a> identified homozygosity for a 494A-G mutation in exon 14 of the MUTYH gene, resulting in a glu466-to-ter (E466X) substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12393807" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<a id="0006" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0006 GASTRIC CANCER, SOMATIC</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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<div style="float: left;">
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MUTYH, PRO391SER
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</div>
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121908382 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121908382;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121908382" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121908382" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000005619 OR RCV001851673" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000005619, RCV001851673" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000005619...</a>
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In gastric cancer (<a href="/entry/137215">137215</a>) tissue from a patient who was a carrier of H. pylori (see <a href="/entry/600263">600263</a>), <a href="#10" class="mim-tip-reference" title="Kim, C. J., Cho, Y. G., Park, C. H., Kim, S. Y., Nam, S. W., Lee, S. H., Yoo, N. J., Lee, J. Y., Park, W. S. <strong>Genetic alterations of the MYH gene in gastric cancer.</strong> Oncogene 23: 6820-6822, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15273732/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15273732</a>] [<a href="https://doi.org/10.1038/sj.onc.1207574" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15273732">Kim et al. (2004)</a> identified a change at codon 391 of the MUTYH gene from CCG (pro) to TCG (ser) (P391S). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15273732" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<a id="0007" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0007 GASTRIC CANCER, SOMATIC</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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<div style="float: left;">
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MUTYH, GLN400ARG
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</div>
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121908383 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121908383;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121908383" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121908383" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000005620" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000005620" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000005620</a>
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In gastric cancer (<a href="/entry/137215">137215</a>) tissue from a patient who was a carrier of H. pylori (see <a href="/entry/600263">600263</a>), <a href="#10" class="mim-tip-reference" title="Kim, C. J., Cho, Y. G., Park, C. H., Kim, S. Y., Nam, S. W., Lee, S. H., Yoo, N. J., Lee, J. Y., Park, W. S. <strong>Genetic alterations of the MYH gene in gastric cancer.</strong> Oncogene 23: 6820-6822, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15273732/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15273732</a>] [<a href="https://doi.org/10.1038/sj.onc.1207574" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15273732">Kim et al. (2004)</a> identified a change at codon 400 of the MUTYH gene from CAG (gln) to GGG (arg) (Q400R). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15273732" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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</span>
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</div>
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<div>
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<br />
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</div>
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<div>
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<div>
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<a id="0008" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0008 FAMILIAL ADENOMATOUS POLYPOSIS 2</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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<div style="float: left;">
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MUTYH, 2-BP INS, 1186GG
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</div>
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</span>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs587780078 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587780078;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs587780078?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs587780078" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs587780078" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000115749 OR RCV000144636 OR RCV000191935 OR RCV000235187 OR RCV004542819" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000115749, RCV000144636, RCV000191935, RCV000235187, RCV004542819" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000115749...</a>
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<p>In a brother and sister, the offspring of first-cousin parents, with association of multiple adenomatous polyps of the colon (FAP2; <a href="/entry/608456">608456</a>) with childhood pilomatricomas, <a href="#3" class="mim-tip-reference" title="Baglioni, S., Melean, G., Gensini, F., Santucci, M., Scatizzi, M., Papi, L., Genuardi, M. <strong>A kindred with MYH-associated polyposis and pilomatricomas.</strong> Am. J. Med. Genet. 134A: 212-214, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15690400/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15690400</a>] [<a href="https://doi.org/10.1002/ajmg.a.30585" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15690400">Baglioni et al. (2005)</a> identified a homozygous 2-bp insertion in exon 13 of the MUTYH gene, 1186insGG, resulting in a frameshift and a premature stop codon at position 438. The brother also had early-onset rectal adenocarcinoma. <a href="#3" class="mim-tip-reference" title="Baglioni, S., Melean, G., Gensini, F., Santucci, M., Scatizzi, M., Papi, L., Genuardi, M. <strong>A kindred with MYH-associated polyposis and pilomatricomas.</strong> Am. J. Med. Genet. 134A: 212-214, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15690400/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15690400</a>] [<a href="https://doi.org/10.1002/ajmg.a.30585" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15690400">Baglioni et al. (2005)</a> investigated exon 3 of the CTNNB1 gene (<a href="/entry/116806">116806</a>), mutations in which have been associated with pilomatricomas (<a href="/entry/132600">132600</a>), in 3 pilomatricomas from one of the affected sibs. Although no CTNNB1 mutations were found in these samples, it is still possible that other genes acting in the same pathway, such as APC (<a href="/entry/611731">611731</a>), were involved in pilomatricoma development in these sibs. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15690400" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0009 FAMILIAL ADENOMATOUS POLYPOSIS 2</strong>
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MUTYH, EX3-16DEL
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000023394" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000023394" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000023394</a>
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<p>For discussion of the rearrangement of the MUTYH gene resulting in the deletion of exons 3 to 16 that was found in a patient with multiple colorectal adenomas (FAP2; <a href="/entry/608456">608456</a>) by <a href="#15" class="mim-tip-reference" title="Rouleau, E., Zattara, H., Lefol, C., Noguchi, T., Briaux, A., Buecher, B., Bourdon, V., Sobol, H., Lidereau, R., Olschwang, S. <strong>First large rearrangement in the MUTYH gene and attenuated familial adenomatous polyposis syndrome. (Letter)</strong> Clin. Genet. 80: 301-303, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21815886/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21815886</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2011.01699.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21815886">Rouleau et al. (2011)</a>, see <a href="#0002">604933.0002</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21815886" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<h4 href="#mimReferencesFold" id="mimReferencesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span class="mim-font">
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<span id="mimReferencesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<strong>REFERENCES</strong>
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<a id="Al-Tassan2002" class="mim-anchor"></a>
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<div class="">
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Al-Tassan, N., Chmiel, N. H., Maynard, J., Fleming, N., Livingston, A. L., Williams, G. T., Hodges, A. K., Davies, D. R., David, S. S., Sampson, J. R., Cheadle, J. P.
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<strong>Inherited variants of MYH associated with somatic G:C-T:A mutations in colorectal tumors.</strong>
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Nature Genet. 30: 227-232, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11818965/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11818965</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11818965" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/ng828" target="_blank">Full Text</a>]
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<a id="Al-Tassan2004" class="mim-anchor"></a>
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Al-Tassan, N., Eisen, T., Maynard, J., Bridle, H., Shah, B., Fleishmann, C., Sampson, J. R., Cheadle, J. P., Houlston, R. S.
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<strong>Inherited variants in MYH are unlikely to contribute to the risk of lung carcinoma.</strong>
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Hum. Genet. 114: 207-210, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14579148/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14579148</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14579148" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/s00439-003-1033-2" target="_blank">Full Text</a>]
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<a id="Baglioni2005" class="mim-anchor"></a>
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Baglioni, S., Melean, G., Gensini, F., Santucci, M., Scatizzi, M., Papi, L., Genuardi, M.
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<strong>A kindred with MYH-associated polyposis and pilomatricomas.</strong>
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Am. J. Med. Genet. 134A: 212-214, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15690400/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15690400</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15690400" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.30585" target="_blank">Full Text</a>]
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<a id="Barnetson2007" class="mim-anchor"></a>
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Barnetson, R. A., Devlin, L., Miller, J., Farrington, S. M., Slater, S., Drake, A. C., Campbell, H., Dunlop, M. G., Porteous, M. E.
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<strong>Germline mutation prevalence in the base excision repair gene, MYH, in patients with endometrial cancer.</strong>
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Clin. Genet. 72: 551-555, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17956577/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17956577</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17956577" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.1399-0004.2007.00900.x" target="_blank">Full Text</a>]
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<a id="Cheadle2003" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Cheadle, J. P., Sampson, J. R.
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<strong>Exposing the MYtH about base excision repair and human inherited disease.</strong>
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Hum. Molec. Genet. 12: R159-R165, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12915454/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12915454</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12915454" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/hmg/ddg259" target="_blank">Full Text</a>]
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<a id="Farrington2005" class="mim-anchor"></a>
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Farrington, S. M., Tenesa, A., Barnetson, R., Wiltshire, A., Prendergast, J., Porteous, M., Campbell, H., Dunlop, M. G.
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<strong>Germline susceptibility to colorectal cancer due to base-excision repair gene defects.</strong>
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Am. J. Hum. Genet. 77: 112-119, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15931596/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15931596</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15931596[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15931596" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1086/431213" target="_blank">Full Text</a>]
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<a id="Fromme2004" class="mim-anchor"></a>
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Fromme, J. C., Banerjee, A., Huang, S. J., Verdine, G. L.
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<strong>Structural basis for removal of adenine mispaired with 8-oxoguanine by MutY adenine DNA glycosylase.</strong>
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Nature 427: 652-656, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14961129/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14961129</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14961129" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/nature02306" target="_blank">Full Text</a>]
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<a id="Fry2008" class="mim-anchor"></a>
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Fry, R. C., Svensson, J. P., Valiathan, C., Wang, E., Hogan, B. J., Bhattacharya, S., Bugni, J. M., Whittaker, C. A., Samson, L. D.
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<strong>Genomic predictors of interindividual differences in response to DNA damaging agents.</strong>
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Genes Dev. 22: 2621-2626, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18805990/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18805990</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18805990[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18805990" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1101/gad.1688508" target="_blank">Full Text</a>]
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<a id="Jones2002" class="mim-anchor"></a>
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Jones, S., Emmerson, P., Maynard, J., Best, J. M., Jordan, S., Williams, G. T., Sampson, J. R., Cheadle, J. P.
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<strong>Biallelic germline mutations in MYH predispose to multiple colorectal adenoma and somatic G:C-to-T:A mutations.</strong>
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Hum. Molec. Genet. 11: 2961-2967, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12393807/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12393807</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12393807" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/hmg/11.23.2961" target="_blank">Full Text</a>]
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<a id="Kim2004" class="mim-anchor"></a>
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Kim, C. J., Cho, Y. G., Park, C. H., Kim, S. Y., Nam, S. W., Lee, S. H., Yoo, N. J., Lee, J. Y., Park, W. S.
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<strong>Genetic alterations of the MYH gene in gastric cancer.</strong>
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Oncogene 23: 6820-6822, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15273732/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15273732</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15273732" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/sj.onc.1207574" target="_blank">Full Text</a>]
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<a id="Lu1998" class="mim-anchor"></a>
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Lu, A.-L., Fawcett, W. P.
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<strong>Characterization of the recombinant MutY homolog, an adenine DNA glycosylase, from the yeast Schizosaccharomyces pombe.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9737967/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9737967</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9737967" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1074/jbc.273.39.25098" target="_blank">Full Text</a>]
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<a id="12" class="mim-anchor"></a>
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<a id="Marra2003" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Marra, G., Jiricny, J.
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<strong>Multiple colorectal adenomas--is their number up? (Editorial)</strong>
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New Eng. J. Med. 348: 845-847, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12606740/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12606740</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12606740" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1056/NEJMe030002" target="_blank">Full Text</a>]
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<a id="13" class="mim-anchor"></a>
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<a id="McGoldrick1995" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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McGoldrick, J. P., Yeh, Y.-C., Solomon, M., Essigmann, J. M., Lu, A.-L.
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<strong>Characterization of a mammalian homolog of the Escherichia coli MutY mismatch repair protein.</strong>
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Molec. Cell. Biol. 15: 989-996, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7823963/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7823963</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7823963" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1128/MCB.15.2.989" target="_blank">Full Text</a>]
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<a id="14" class="mim-anchor"></a>
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<a id="Nghiem1988" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Nghiem, Y., Cabrera, M., Cupples, C. G., Miller, J. H.
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|
<strong>The mutY gene: a mutator locus in Escherichia coli that generates G:C to T:A transversions.</strong>
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Proc. Nat. Acad. Sci. 85: 2709-2713, 1988.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3128795/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3128795</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3128795" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1073/pnas.85.8.2709" target="_blank">Full Text</a>]
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<a id="15" class="mim-anchor"></a>
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<a id="Rouleau2011" class="mim-anchor"></a>
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<div class="">
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Rouleau, E., Zattara, H., Lefol, C., Noguchi, T., Briaux, A., Buecher, B., Bourdon, V., Sobol, H., Lidereau, R., Olschwang, S.
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<strong>First large rearrangement in the MUTYH gene and attenuated familial adenomatous polyposis syndrome. (Letter)</strong>
|
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Clin. Genet. 80: 301-303, 2011.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21815886/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21815886</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21815886" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.1399-0004.2011.01699.x" target="_blank">Full Text</a>]
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<a id="16" class="mim-anchor"></a>
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<a id="Sampson2003" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Sampson, J. R., Dolwani, S., Jones, S., Eccles, D., Ellis, A., Evans, D. G., Frayling, I., Jordan, S., Maher, E. R., Mak, T., Maynard, J., Pigatto, F., Shaw, J., Cheadle, J. P.
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<strong>Autosomal recessive colorectal adenomatous polyposis due to inherited mutations of MYH.</strong>
|
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Lancet 362: 39-41, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12853198/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12853198</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12853198" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/S0140-6736(03)13805-6" target="_blank">Full Text</a>]
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<a id="17" class="mim-anchor"></a>
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<a id="Sieber2003" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Sieber, O. M., Lipton, L., Crabtree, M., Heinimann, K., Fidalgo, P., Phillips, R. K. S., Bisgaard, M.-L., Orntoft, T. F., Aaltonen, L. A., Hodgson, S. V., Thomas, H. J. W., Tomlinson, I. P. M.
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<strong>Multiple colorectal adenomas, classic adenomatous polyposis, and germ-line mutations in MYH.</strong>
|
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New Eng. J. Med. 348: 791-799, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12606733/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12606733</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12606733" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1056/NEJMoa025283" target="_blank">Full Text</a>]
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<a id="18" class="mim-anchor"></a>
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<a id="Slupska1996" class="mim-anchor"></a>
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Slupska, M. M., Baikalov, C., Luther, W. M., Chiang, J.-H., Wei, Y.-F., Miller, J. H.
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<strong>Cloning and sequencing a human homolog (hMYH) of the Escherichia coli mutY gene whose function is required for the repair of oxidative DNA damage.</strong>
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J. Bacteriol. 178: 3885-3892, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8682794/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8682794</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8682794" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1128/jb.178.13.3885-3892.1996" target="_blank">Full Text</a>]
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<a id="Thomas1997" class="mim-anchor"></a>
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Thomas, D., Scot, A. D., Barbey, R., Padula, M., Boiteux, S.
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<strong>Inactivation of OGG1 increases the incidence of G:C to T:A transversions in Saccharomyces cerevisiae: evidence for endogenous oxidative damage to DNA in eukaryotic cells.</strong>
|
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Molec. Gen. Genet. 254: 171-178, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9108279/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9108279</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9108279" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/s004380050405" target="_blank">Full Text</a>]
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<li>
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<a id="20" class="mim-anchor"></a>
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<a id="Webb2006" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Webb, E. L., Rudd, M. F., Houlston, R. S.
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<strong>Colorectal cancer risk in monoallelic carriers of MYH variants. (Letter)</strong>
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Am. J. Hum. Genet. 79: 768-771, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16960817/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16960817</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16960817" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1086/507912" target="_blank">Full Text</a>]
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<br />
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Matthew B. Gross - updated : 01/04/2021
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<div class="row collapse" id="mimCollapseContributors">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 10/5/2011<br>Patricia A. Hartz - updated : 11/7/2008<br>Cassandra L. Kniffin - updated : 1/14/2008<br>Victor A. McKusick - updated : 9/26/2006<br>Victor A. McKusick - updated : 6/28/2005<br>Victor A. McKusick - updated : 4/14/2005<br>Victor A. McKusick - updated : 12/9/2004<br>Ada Hamosh - updated : 2/12/2004<br>Victor A. McKusick - updated : 1/13/2004<br>Victor A. McKusick - updated : 12/23/2003<br>Victor A. McKusick - updated : 3/6/2003<br>Victor A. McKusick - updated : 1/23/2002
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</span>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Stefanie A. Nelson : 5/9/2000
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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mgross : 01/04/2021
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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joanna : 01/31/2020<br>carol : 09/17/2019<br>carol : 08/20/2019<br>alopez : 04/24/2015<br>mcolton : 4/21/2015<br>carol : 10/11/2011<br>ckniffin : 10/5/2011<br>mgross : 11/17/2008<br>terry : 11/7/2008<br>ckniffin : 2/5/2008<br>carol : 1/21/2008<br>ckniffin : 1/16/2008<br>ckniffin : 1/14/2008<br>alopez : 10/4/2006<br>terry : 9/26/2006<br>alopez : 9/29/2005<br>alopez : 7/6/2005<br>terry : 6/28/2005<br>tkritzer : 4/28/2005<br>terry : 4/14/2005<br>tkritzer : 12/16/2004<br>terry : 12/9/2004<br>carol : 7/7/2004<br>alopez : 2/13/2004<br>terry : 2/12/2004<br>carol : 2/10/2004<br>cwells : 1/13/2004<br>terry : 12/23/2003<br>carol : 3/17/2003<br>carol : 3/17/2003<br>tkritzer : 3/13/2003<br>terry : 3/6/2003<br>terry : 3/11/2002<br>alopez : 1/30/2002<br>terry : 1/23/2002<br>alopez : 5/9/2000<br>alopez : 5/9/2000
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<h3>
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<span class="mim-font">
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<strong>*</strong> 604933
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</span>
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</h3>
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<div>
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<h3>
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<span class="mim-font">
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MutY DNA GLYCOSYLASE; MUTYH
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</span>
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</h3>
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</div>
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<div>
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<br />
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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MutY, E. COLI, HOMOLOG OF<br />
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MYH
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</span>
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</h4>
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</div>
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<br />
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: MUTYH</em></strong>
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</span>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 254878006;
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</span>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: 1p34.1
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Genomic coordinates <span class="small">(GRCh38)</span> : 1:45,329,242-45,340,440 </span>
|
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</em>
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</strong>
|
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<span class="small">(from NCBI)</span>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
|
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<thead>
|
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<tr class="active">
|
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<th>
|
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
|
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
|
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<td rowspan="2">
|
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<span class="mim-font">
|
|
1p34.1
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</span>
|
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</td>
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<td>
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<span class="mim-font">
|
|
Adenomas, multiple colorectal
|
|
</span>
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</td>
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<td>
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<span class="mim-font">
|
|
608456
|
|
</span>
|
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</td>
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<td>
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<span class="mim-font">
|
|
Autosomal recessive
|
|
</span>
|
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</td>
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<td>
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<span class="mim-font">
|
|
3
|
|
</span>
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</td>
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</tr>
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<tr>
|
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<td>
|
|
<span class="mim-font">
|
|
Gastric cancer, somatic
|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
613659
|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
|
|
</span>
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</td>
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<td>
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<span class="mim-font">
|
|
3
|
|
</span>
|
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</td>
|
|
</tr>
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|
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|
|
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|
|
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</tbody>
|
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</table>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>TEXT</strong>
|
|
</span>
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</h4>
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|
|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Description</strong>
|
|
</span>
|
|
</h4>
|
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</div>
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<span class="mim-text-font">
|
|
<p>Base excision repair (BER) protects against damage to DNA from reactive oxygen species, methylation, deamination, hydroxylation, and other byproducts of cellular metabolism. MUTYH is a BER DNA glycosylase that helps protect cells against the mutagenic effects of guanine oxidation (summary by Cheadle and Sampson, 2003). </p>
|
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</span>
|
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<div>
|
|
<br />
|
|
</div>
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|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Cloning and Expression</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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|
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|
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<span class="mim-text-font">
|
|
<p>The E. coli mutY and mutM (OGG1; 601982) glycosylases work together to prevent mutations from certain types of oxidative damage, in particular the oxidized guanine lesion 8-oxodG. To identify sequences encoding proteins homologous to E. mutY, Slupska et al. (1996) screened a human cDNA sequence database. They identified an EST which was then used to probe a human BAC library to isolate genomic human mutY, which they referred to as MYH, also symbolized MUTYH. They also isolated a full-length cDNA clone from a human brain tissue cDNA library. The gene encodes a 535-amino acid protein with 41% identity to E. coli mutY. </p><p>Lu and Fawcett (1998) isolated a full-length Schizosaccharomyces pombe MYH cDNA. The cDNA encodes a 461-amino acid protein that shares 31% amino acid identity with human MYH and 28% identity with E. coli mutY. </p>
|
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</span>
|
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<div>
|
|
<br />
|
|
</div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene Structure</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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|
|
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|
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<span class="mim-text-font">
|
|
<p>Slupska et al. (1996) determined that the human MUTYH gene has 16 exons and encompasses 7.1 kb. </p>
|
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</span>
|
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<div>
|
|
<br />
|
|
</div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Mapping</strong>
|
|
</span>
|
|
</h4>
|
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</div>
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|
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|
|
|
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<span class="mim-text-font">
|
|
<p>By fluorescence in situ hybridization analysis using the human MUTYH genomic clone, Slupska et al. (1996) mapped the MUTYH gene to chromosome 1p34.3-1p32.1. </p>
|
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</span>
|
|
<div>
|
|
<br />
|
|
</div>
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|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene Function</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<span class="mim-text-font">
|
|
<p>McGoldrick et al. (1995) identified an A/G mismatch-nicking endonuclease, MYH, in nuclear extracts from calf thymus and human HeLa cells. Western blot analysis using antibodies against the E. coli mutY protein detected a 65-kD band in calf and HeLa cell nuclear extracts. Preincubation of calf thymus nuclear extracts with E. coli anti-mutY antibody decreased the A/G nicking activity in a dose-dependent manner. Calf MYH has both nicking and glycosylase activity and is active at A/G, A/GO, and A/C mismatches, showing specificity similar to that of E. coli mutY. </p><p>Lu and Fawcett (1998) found that recombinant S. pombe MYH has glycosylase and nicking activities and is active at A/G and A/GO sites, similar to E. coli mutY. </p><p>By examining gene expression profiles, Fry et al. (2008) showed that elevated MYH expression was associated with increased sensitivity to MNNG, a DNA alkylating agent. Knockdown of MYH expression reduced the sensitivity of a human lymphoblast cell line to MNNG-induced cell killing. Furthermore, Myh -/- mouse embryonic fibroblasts were much less sensitive than wildtype fibroblasts to MNNG-induced cell killing. Analysis of genes that were differentially expressed between cell lines with the highest and lowest MNNG sensitivities integrated MYH into a protein network related to human cancer and tumorigenesis. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Biochemical Features</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p><strong><em>Crystal Structure</em></strong></p><p>
|
|
Fromme et al. (2004) reported the use of disulfide crosslinking to obtain high resolution crystal structures of MutY-DNA lesion-recognition complexes. These structures revealed the basis for recognizing both lesions in the A-oxoG pair and for catalyzing removal of the adenine base. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Molecular Genetics</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p><strong><em>Familial Adenomatous Polyposis 2</em></strong></p><p>
|
|
Al-Tassan et al. (2002) stated that inherited defects of base excision repair had not been associated with any human genetic disorder, although mutations of the genes mutM and mutY, which function in E. coli base excision repair, lead to increased transversions of G:C to T:A (Nghiem et al., 1988; Thomas et al., 1997). Al-Tassan et al. (2002) studied a British family in which 3 sibs were affected with familial adenomatous polyposis-2 (FAP2; 608456). There was no clear pathogenic change in the APC gene (611731). They showed that 11 tumors from the 3 affected sibs contained 18 somatic inactivating mutations of APC and that 15 of these mutations were G:C-T:A transversions--a significantly greater proportion than is found in sporadic tumors or in tumors associated with familial adenomatous polyposis. Analysis of the human homolog of mutY, MYH, showed that the sibs were compound heterozygous for the nonconservative missense variants tyr165-to-cys (Y165C; 604933.0001) and gly382-to-asp (G382D; 604933.0002). These mutations affect residues that are conserved in mutY of E. coli. Tyrosine-82 is located in the pseudo-helix-hairpin-helix motif and is predicted to function in mismatch specificity. Assays of adenine glycosylase activity of the tyr82-to-cys and gly253-to-asp mutant proteins with 8-oxoG:A and G:A substrates showed that their activity was reduced significantly. The findings linked the inherited variants in MYH to the pattern of somatic APC mutation in the British family and implicated defective base excision repair in predisposition to tumors in humans. </p><p>Jones et al. (2002) tested 21 patients in the United Kingdom who had multiple colonic adenomas and found biallelic MYH mutations in 7, all of whom were of Welsh, Indian, or Pakistani origin. They found that patients with origins on the Indian subcontinent carried 1 of 2 novel nonsense mutations (604933.0004-604933.0005). </p><p>Sieber et al. (2003) screened for germline MYH mutations in 152 patients with multiple (3 to 100) colorectal adenomas and 107 APC mutation-negative probands with classic familial adenomatous polyposis (more than 100 adenomas). Six patients with multiple adenomas and 8 patients with polyposis had biallelic MYH variants. Missense and protein-truncating mutations were found, and the spectrum of mutations was very similar in the 2 groups of patients. In the tumors of carriers of biallelic mutations, all somatic APC mutations were G:C-T:A transversions. In the group with multiple adenomas, approximately one-third of patients with more than 15 adenomas had biallelic MYH mutations. In the polyposis group, no patient with biallelic MYH mutations had severe disease (more than 1,000 adenomas), but 3 had extracolonic disease (2 had duodenal polyposis and 1 had congenital hypertrophy of the retinal pigment epithelium). No desmoid tumors were reported. Mutation analysis was also performed on the MTH1 (600312) and OGG1 genes, but no clearly pathogenic mutations were identified. </p><p>Marra and Jiricny (2003) commented on the remarkable fact that of the 36 germline mutations identified in biallelic configurations in white European patients in the studies of Al-Tassan et al. (2002), Jones et al. (2002), and Sieber et al. (2003), 31 (86%) resulted in the amino acid substitutions Y165C and G382D, and 14 of 18 patients with these substitutions (78%) had either a homozygous or compound heterozygous configuration. Marra and Jiricny (2003) also diagrammed the repair of mutations involving 8-oxoguanine in human cells by the proteins MTH1, OGG1, and MYH. </p><p>Among 614 families recorded in 6 regional registers of polyposis in the U.K., Sampson et al. (2003) identified 111 with neither dominant transmission nor evidence of APC mutation. Molecular genetic analysis showed that 25 had biallelic mutations of the MYH gene. The data showed that MYH polyposis can be transmitted as an autosomal recessive trait, requiring a change in genetic counseling, testing, and surveillance. Sampson et al. (2003) recommended that genetic analysis of MYH should be offered to patients with a phenotype resembling familial adenomatous polyposis (FAP) or attenuated FAP, when no clear evidence of vertical transmission is recorded. </p><p>Baglioni et al. (2005) reported 2 sibs, born from consanguineous parents, who were found to be homozygous for a frameshift mutation in the MYH gene (604933.0008). The propositus presented with a low number of colonic lesions and an early-onset colorectal cancer. Both sibs had a childhood history of pilomatricomas (132600), which are benign tumors derived from hair follicles. Pilomatricomas have been associated with mutation in the CTNNB1 gene (116806), which is the site of mutations that predispose to colorectal cancer. </p><p>Farrington et al. (2005) presented a large, systematically collected population-based association study (2,239 cases; 1,845 controls) that explored the contribution to colorectal cancer incidence of inherited defects in base-excision repair (BER) genes. They showed that biallelic MUTYH defects impart a 93-fold excess risk of colorectal cancer, which accounted for 0.8% of cases aged less than 55 years and 0.54% of the entire cohort. Penetrance of homozygous carriers was almost complete by age 60 years. Significantly more biallelic carriers had coexisting adenomatous polyps. However, notably, 36% of biallelic carriers had no polyps. Three patients with heterozygous MUTYH defects carried monoallelic mutations in other BER genes: OGG1 (601982) and MTH1 (600312). Recessive inheritance accounted for the elevated risk for those aged less than 55 years. However, there was also a 1.68-fold excess risk for heterozygous carriers aged more than 55 years, with a population attributable risk in this age group of 0.93%. These data provided strong evidence for a causative role of BER defects in colorectal cancer etiology and showed that heterozygous MUTYH mutations predispose to colorectal cancer later in life. These findings, the authors suggested, have clinical relevance for BER gene testing for patients with colorectal cancer and for genetic counseling of their relatives. </p><p>Webb et al. (2006) stated that they believed that the assertion that monoallelic (heterozygous) carrier status for MYH variants confers an elevated risk of colorectal cancer was unsupported by available data. </p><p>Cheadle and Sampson (2003) reviewed the molecular pathology and biochemistry of MYH colonic polyposis. </p><p><strong><em>Other Associations</em></strong></p><p>
|
|
Studies by Al-Tassan et al. (2004) appeared to exonerate the MYH gene as a predisposing factor in lung cancer. </p><p>Increased oxygen free radicals produced in gastric mucosa by H. pylori (see 600263) induce DNA damage and lead to dysplasia and gastric cancers (137215); however, only a small percentage of individuals who carry H. pylori develop gastric cancer, indicating that other factors are involved. Kim et al. (2004) screened a set of 95 sporadic gastric cancers for mutations and allele loss of the DNA glycosylase MYH gene, which excises adenine misincorporated opposite unrepaired 8-oxoG. Two of 95 cancers had biallelic mutations of the MYH gene with somatic missense mutation of 1 allele and loss of the remaining allele. The mutations, pro391 to ser (P391S; 604933.0006) and gln400 to arg (Q400R; 604933.0007), occurred in exon 13, which encodes the NUDIX (nucleoside diphosphate linked to some other moiety X) hydrolase domain (codons 366-497) of the gene. The patients were H. pylori-positive and the tumors were of advanced intestinal-type gastric cancer with lymph node metastasis. In addition, 4 (17.4%) of 23 informative cases showed allele loss at the MYH locus. Kim et al. (2004) concluded that somatic mutations of the base excision repair gene MYH contribute to the development of a subset of sporadic gastric cancers. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>ALLELIC VARIANTS</strong>
|
|
</span>
|
|
<strong>9 Selected Examples):</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0001 FAMILIAL ADENOMATOUS POLYPOSIS 2</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
ENDOMETRIAL CANCER, INCLUDED
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
MUTYH, TYR165CYS
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs34612342,
|
|
|
|
|
|
gnomAD: rs34612342,
|
|
|
|
|
|
ClinVar: RCV000005612, RCV000005613, RCV000079502, RCV000115766, RCV000121607, RCV000144631, RCV001554314, RCV002476933, RCV004528083, RCV005055057
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a Welsh family in which 3 sibs had familial adenomatous polyposis-2 (FAP2; 608456), Al-Tassan et al. (2002) could find no clear germline pathogenic change in the APC gene. However, they showed that 11 tumors from the 3 affected sibs contained 18 somatic inactivating mutations of APC and that 15 of these mutations were G:C-T:A transversions--a significantly greater proportion than is found in sporadic tumors or in tumors associated with familial adenomatous polyposis. Analysis of the mutY gene showed that the affected sibs were compound heterozygous for 2 missense variants, tyr165 to cys (Y165C) and gly382 to asp (G382D; 604933.0002). Thus, defective base excision repair was implicated by these findings in predisposition to tumors in humans. </p><p>Sieber et al. (2003) found the germline Y165C mutation in homozygous or compound heterozygous state in 5 of 12 patients from the UK with multiple adenomas. </p><p>Barnetson et al. (2007) reported a patient with endometrial adenocarcinoma (see 608089) and sebaceous carcinoma of the face who was compound heterozygous for the Y165C and G382D mutations. Colonic adenomas were not reported, but a paternal aunt reportedly had colorectal cancer in her thirties. Barnetson et al. (2007) noted that the phenotype associated with biallelic MUTYH mutations may include extracolonic manifestations, including endometrial cancer and sebaceous carcinoma, as seen in other inherited colorectal cancer syndromes. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0002 FAMILIAL ADENOMATOUS POLYPOSIS 2</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
ENDOMETRIAL CANCER, INCLUDED
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
MUTYH, GLY382ASP
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs36053993,
|
|
|
|
|
|
gnomAD: rs36053993,
|
|
|
|
|
|
ClinVar: RCV000005614, RCV000005615, RCV000079501, RCV000115748, RCV000121598, RCV000144637, RCV000477907, RCV000493920, RCV000501239, RCV000515320, RCV001262769, RCV001574076, RCV001580144, RCV002051775, RCV004528084, RCV004785246, RCV004808548, RCV005016243
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the gly382-to-asp (G382D) mutation in the MUTYH gene that was found in compound heterozygous state in patients with familial adenomatous polyposis-2 (FAP2; 608456) by Al-Tassan et al. (2002) and in a patient with endometrial adenocarcinoma (see 608089) by Barnetson et al. (2007), see 604933.0001. </p><p>Sieber et al. (2003) found the G382D mutation in compound heterozygous or homozygous state in 6 patients in the UK with multiple colorectal adenomas (608456). </p><p>In a 45-year-old French man who was found to have 25 colorectal adenomas on colonoscopy, Rouleau et al. (2011) identified compound heterozygosity for G382D and a large rearrangement of the MUTYH gene resulting in the deletion of exons 3 to 16 (604933.0009). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
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|
|
</div>
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|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0003 FAMILIAL ADENOMATOUS POLYPOSIS 2</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
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|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
MUTYH, 1-BP DEL, 1419C
|
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|
|
|
<br />
|
|
|
|
SNP: rs146331482,
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|
|
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gnomAD: rs146331482,
|
|
|
|
|
|
ClinVar: RCV000005616
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a female patient in the United Kingdom who was diagnosed with multiple (18) adenomas (608456) at age 57 years and who also had colorectal cancer and a family history of both, Sieber et al. (2003) identified a 1419delC frameshift mutation in codon 473 of the MUTYH gene in compound heterozygous state with a Y165C mutation (604933.0001). </p>
|
|
</span>
|
|
</div>
|
|
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|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0004 FAMILIAL ADENOMATOUS POLYPOSIS 2</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
MUTYH, TYR90TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121908380,
|
|
|
|
|
|
gnomAD: rs121908380,
|
|
|
|
|
|
ClinVar: RCV000005617, RCV000163049, RCV000486820, RCV000661934, RCV001353649, RCV002496270
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a Pakistani patient with multiple colorectal adenomas (FAP2; 608456), Jones et al. (2002) identified homozygosity for a 270C-A mutation in exon 3 of the MUTYH gene, resulting in a tyr90-to-ter (Y90X) substitution. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0005 FAMILIAL ADENOMATOUS POLYPOSIS 2</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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MUTYH, GLU466TER
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<br />
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SNP: rs121908381,
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gnomAD: rs121908381,
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ClinVar: RCV000005618, RCV000222872, RCV000235388, RCV001353602, RCV002496271, RCV003335015
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In 3 patients with multiple colorectal adenomas (FAP2; 608456) from unrelated Indian families, Jones et al. (2002) identified homozygosity for a 494A-G mutation in exon 14 of the MUTYH gene, resulting in a glu466-to-ter (E466X) substitution. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0006 GASTRIC CANCER, SOMATIC</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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MUTYH, PRO391SER
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<br />
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SNP: rs121908382,
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ClinVar: RCV000005619, RCV001851673
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In gastric cancer (137215) tissue from a patient who was a carrier of H. pylori (see 600263), Kim et al. (2004) identified a change at codon 391 of the MUTYH gene from CCG (pro) to TCG (ser) (P391S). </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>.0007 GASTRIC CANCER, SOMATIC</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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MUTYH, GLN400ARG
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<br />
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SNP: rs121908383,
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ClinVar: RCV000005620
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In gastric cancer (137215) tissue from a patient who was a carrier of H. pylori (see 600263), Kim et al. (2004) identified a change at codon 400 of the MUTYH gene from CAG (gln) to GGG (arg) (Q400R). </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>.0008 FAMILIAL ADENOMATOUS POLYPOSIS 2</strong>
|
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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MUTYH, 2-BP INS, 1186GG
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<br />
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SNP: rs587780078,
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gnomAD: rs587780078,
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|
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ClinVar: RCV000115749, RCV000144636, RCV000191935, RCV000235187, RCV004542819
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>In a brother and sister, the offspring of first-cousin parents, with association of multiple adenomatous polyps of the colon (FAP2; 608456) with childhood pilomatricomas, Baglioni et al. (2005) identified a homozygous 2-bp insertion in exon 13 of the MUTYH gene, 1186insGG, resulting in a frameshift and a premature stop codon at position 438. The brother also had early-onset rectal adenocarcinoma. Baglioni et al. (2005) investigated exon 3 of the CTNNB1 gene (116806), mutations in which have been associated with pilomatricomas (132600), in 3 pilomatricomas from one of the affected sibs. Although no CTNNB1 mutations were found in these samples, it is still possible that other genes acting in the same pathway, such as APC (611731), were involved in pilomatricoma development in these sibs. </p>
|
|
</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0009 FAMILIAL ADENOMATOUS POLYPOSIS 2</strong>
|
|
</span>
|
|
</h4>
|
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</div>
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<div>
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<span class="mim-text-font">
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MUTYH, EX3-16DEL
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<br />
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ClinVar: RCV000023394
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>For discussion of the rearrangement of the MUTYH gene resulting in the deletion of exons 3 to 16 that was found in a patient with multiple colorectal adenomas (FAP2; 608456) by Rouleau et al. (2011), see 604933.0002. </p>
|
|
</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<h4>
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|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
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</h4>
|
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<div>
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<p />
|
|
</div>
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<div>
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<ol>
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<li>
|
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<p class="mim-text-font">
|
|
Al-Tassan, N., Chmiel, N. H., Maynard, J., Fleming, N., Livingston, A. L., Williams, G. T., Hodges, A. K., Davies, D. R., David, S. S., Sampson, J. R., Cheadle, J. P.
|
|
<strong>Inherited variants of MYH associated with somatic G:C-T:A mutations in colorectal tumors.</strong>
|
|
Nature Genet. 30: 227-232, 2002.
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[PubMed: 11818965]
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[Full Text: https://doi.org/10.1038/ng828]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Al-Tassan, N., Eisen, T., Maynard, J., Bridle, H., Shah, B., Fleishmann, C., Sampson, J. R., Cheadle, J. P., Houlston, R. S.
|
|
<strong>Inherited variants in MYH are unlikely to contribute to the risk of lung carcinoma.</strong>
|
|
Hum. Genet. 114: 207-210, 2004.
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|
|
[PubMed: 14579148]
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[Full Text: https://doi.org/10.1007/s00439-003-1033-2]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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|
Baglioni, S., Melean, G., Gensini, F., Santucci, M., Scatizzi, M., Papi, L., Genuardi, M.
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|
<strong>A kindred with MYH-associated polyposis and pilomatricomas.</strong>
|
|
Am. J. Med. Genet. 134A: 212-214, 2005.
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[PubMed: 15690400]
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[Full Text: https://doi.org/10.1002/ajmg.a.30585]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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|
Barnetson, R. A., Devlin, L., Miller, J., Farrington, S. M., Slater, S., Drake, A. C., Campbell, H., Dunlop, M. G., Porteous, M. E.
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<strong>Germline mutation prevalence in the base excision repair gene, MYH, in patients with endometrial cancer.</strong>
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Clin. Genet. 72: 551-555, 2007.
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[PubMed: 17956577]
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[Full Text: https://doi.org/10.1111/j.1399-0004.2007.00900.x]
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</p>
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<li>
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<p class="mim-text-font">
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Cheadle, J. P., Sampson, J. R.
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<strong>Exposing the MYtH about base excision repair and human inherited disease.</strong>
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Hum. Molec. Genet. 12: R159-R165, 2003.
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[PubMed: 12915454]
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[Full Text: https://doi.org/10.1093/hmg/ddg259]
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</p>
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<li>
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<p class="mim-text-font">
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Farrington, S. M., Tenesa, A., Barnetson, R., Wiltshire, A., Prendergast, J., Porteous, M., Campbell, H., Dunlop, M. G.
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<strong>Germline susceptibility to colorectal cancer due to base-excision repair gene defects.</strong>
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Am. J. Hum. Genet. 77: 112-119, 2005.
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[PubMed: 15931596]
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[Full Text: https://doi.org/10.1086/431213]
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<p class="mim-text-font">
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Fromme, J. C., Banerjee, A., Huang, S. J., Verdine, G. L.
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<strong>Structural basis for removal of adenine mispaired with 8-oxoguanine by MutY adenine DNA glycosylase.</strong>
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Nature 427: 652-656, 2004.
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[PubMed: 14961129]
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[Full Text: https://doi.org/10.1038/nature02306]
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<p class="mim-text-font">
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Fry, R. C., Svensson, J. P., Valiathan, C., Wang, E., Hogan, B. J., Bhattacharya, S., Bugni, J. M., Whittaker, C. A., Samson, L. D.
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<strong>Genomic predictors of interindividual differences in response to DNA damaging agents.</strong>
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Genes Dev. 22: 2621-2626, 2008.
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[Full Text: https://doi.org/10.1101/gad.1688508]
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</p>
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<li>
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<p class="mim-text-font">
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Jones, S., Emmerson, P., Maynard, J., Best, J. M., Jordan, S., Williams, G. T., Sampson, J. R., Cheadle, J. P.
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<strong>Biallelic germline mutations in MYH predispose to multiple colorectal adenoma and somatic G:C-to-T:A mutations.</strong>
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Hum. Molec. Genet. 11: 2961-2967, 2002.
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[PubMed: 12393807]
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[Full Text: https://doi.org/10.1093/hmg/11.23.2961]
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</p>
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<li>
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<p class="mim-text-font">
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Kim, C. J., Cho, Y. G., Park, C. H., Kim, S. Y., Nam, S. W., Lee, S. H., Yoo, N. J., Lee, J. Y., Park, W. S.
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<strong>Genetic alterations of the MYH gene in gastric cancer.</strong>
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Oncogene 23: 6820-6822, 2004.
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<p class="mim-text-font">
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Lu, A.-L., Fawcett, W. P.
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<strong>Characterization of the recombinant MutY homolog, an adenine DNA glycosylase, from the yeast Schizosaccharomyces pombe.</strong>
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J. Biol. Chem. 273: 25098-25105, 1998.
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[PubMed: 9737967]
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<p class="mim-text-font">
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Marra, G., Jiricny, J.
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[PubMed: 12606740]
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[Full Text: https://doi.org/10.1056/NEJMe030002]
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</p>
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<li>
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<p class="mim-text-font">
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McGoldrick, J. P., Yeh, Y.-C., Solomon, M., Essigmann, J. M., Lu, A.-L.
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<strong>Characterization of a mammalian homolog of the Escherichia coli MutY mismatch repair protein.</strong>
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Molec. Cell. Biol. 15: 989-996, 1995.
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[PubMed: 7823963]
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[Full Text: https://doi.org/10.1128/MCB.15.2.989]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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|
Nghiem, Y., Cabrera, M., Cupples, C. G., Miller, J. H.
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<strong>The mutY gene: a mutator locus in Escherichia coli that generates G:C to T:A transversions.</strong>
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Proc. Nat. Acad. Sci. 85: 2709-2713, 1988.
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[PubMed: 3128795]
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[Full Text: https://doi.org/10.1073/pnas.85.8.2709]
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</p>
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</li>
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<li>
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|
<p class="mim-text-font">
|
|
Rouleau, E., Zattara, H., Lefol, C., Noguchi, T., Briaux, A., Buecher, B., Bourdon, V., Sobol, H., Lidereau, R., Olschwang, S.
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<strong>First large rearrangement in the MUTYH gene and attenuated familial adenomatous polyposis syndrome. (Letter)</strong>
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Clin. Genet. 80: 301-303, 2011.
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[PubMed: 21815886]
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[Full Text: https://doi.org/10.1111/j.1399-0004.2011.01699.x]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Sampson, J. R., Dolwani, S., Jones, S., Eccles, D., Ellis, A., Evans, D. G., Frayling, I., Jordan, S., Maher, E. R., Mak, T., Maynard, J., Pigatto, F., Shaw, J., Cheadle, J. P.
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<strong>Autosomal recessive colorectal adenomatous polyposis due to inherited mutations of MYH.</strong>
|
|
Lancet 362: 39-41, 2003.
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|
|
|
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[PubMed: 12853198]
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|
|
|
|
[Full Text: https://doi.org/10.1016/S0140-6736(03)13805-6]
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|
</p>
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|
</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Sieber, O. M., Lipton, L., Crabtree, M., Heinimann, K., Fidalgo, P., Phillips, R. K. S., Bisgaard, M.-L., Orntoft, T. F., Aaltonen, L. A., Hodgson, S. V., Thomas, H. J. W., Tomlinson, I. P. M.
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<strong>Multiple colorectal adenomas, classic adenomatous polyposis, and germ-line mutations in MYH.</strong>
|
|
New Eng. J. Med. 348: 791-799, 2003.
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|
|
|
|
[PubMed: 12606733]
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|
|
[Full Text: https://doi.org/10.1056/NEJMoa025283]
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</p>
|
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Slupska, M. M., Baikalov, C., Luther, W. M., Chiang, J.-H., Wei, Y.-F., Miller, J. H.
|
|
<strong>Cloning and sequencing a human homolog (hMYH) of the Escherichia coli mutY gene whose function is required for the repair of oxidative DNA damage.</strong>
|
|
J. Bacteriol. 178: 3885-3892, 1996.
|
|
|
|
|
|
[PubMed: 8682794]
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|
|
[Full Text: https://doi.org/10.1128/jb.178.13.3885-3892.1996]
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</p>
|
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Thomas, D., Scot, A. D., Barbey, R., Padula, M., Boiteux, S.
|
|
<strong>Inactivation of OGG1 increases the incidence of G:C to T:A transversions in Saccharomyces cerevisiae: evidence for endogenous oxidative damage to DNA in eukaryotic cells.</strong>
|
|
Molec. Gen. Genet. 254: 171-178, 1997.
|
|
|
|
|
|
[PubMed: 9108279]
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|
|
[Full Text: https://doi.org/10.1007/s004380050405]
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</p>
|
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Webb, E. L., Rudd, M. F., Houlston, R. S.
|
|
<strong>Colorectal cancer risk in monoallelic carriers of MYH variants. (Letter)</strong>
|
|
Am. J. Hum. Genet. 79: 768-771, 2006.
|
|
|
|
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[PubMed: 16960817]
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[Full Text: https://doi.org/10.1086/507912]
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Matthew B. Gross - updated : 01/04/2021<br>Cassandra L. Kniffin - updated : 10/5/2011<br>Patricia A. Hartz - updated : 11/7/2008<br>Cassandra L. Kniffin - updated : 1/14/2008<br>Victor A. McKusick - updated : 9/26/2006<br>Victor A. McKusick - updated : 6/28/2005<br>Victor A. McKusick - updated : 4/14/2005<br>Victor A. McKusick - updated : 12/9/2004<br>Ada Hamosh - updated : 2/12/2004<br>Victor A. McKusick - updated : 1/13/2004<br>Victor A. McKusick - updated : 12/23/2003<br>Victor A. McKusick - updated : 3/6/2003<br>Victor A. McKusick - updated : 1/23/2002
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Stefanie A. Nelson : 5/9/2000
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