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Entry
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- *605882 - BRCA1-INTERACTING PROTEIN 1; BRIP1
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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">*605882</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="#cloning">Cloning and Expression</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="#mapping">Mapping</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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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/605882">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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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>
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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-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=ENSG00000136492;t=ENST00000259008" 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=83990" 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=605882" 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="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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<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=ENSG00000136492;t=ENST00000259008" 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_032043,XM_011525332,XM_011525333,XM_011525334,XM_011525335,XM_011525336,XM_011525339,XM_011525340,XM_011525341,XM_047436891,XM_047436892,XM_047436893,XM_047436894,XM_047436895,XM_047436896,XM_047436897,XM_047436899,XM_047436900,XM_047436901,XM_047436902,XM_047436903,XM_047436904" 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_032043" 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=605882" 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=05797&isoform_id=05797_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/BRIP1" 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/13661819,22760335,75516497,75516501,119571815,119571816,119571817,119571818,301897118,767996111,767996113,767996115,767996117,767996119,767996125,767996127,767996129,1491741725,2217314263,2217314265,2217314269,2217314271,2217314274,2217314277,2217314279,2217314281,2217314283,2217314285,2217314287,2217314289,2217314291,2462558157,2462558159,2462558161,2462558163,2462558165,2462558167,2462558169,2462558171,2462558173,2462558175,2462558177,2462558179,2462558181,2462558183,2462558185,2462558187,2462558189,2462558191,2462558193,2462558195,2462558197,2909903177,2909903179,2909903181" 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/Q9BX63" 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>
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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=83990" 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=ENSG00000136492;t=ENST00000259008" 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=BRIP1" 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=BRIP1" 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+83990" 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/BRIP1" 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:83990" 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/83990" 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=chr17&hgg_gene=ENST00000259008.7&hgg_start=61679139&hgg_end=61863528&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:20473" 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:20473" 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://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=605882[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=605882[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/BRIP1/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/ENSG00000136492" 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=BRIP1" 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=BRIP1" 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=BRIP1" 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.rockefeller.edu/fanconi/mutate/" 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=BRIP1&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/PA134906421" 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:20473" 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:2442836" 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/BRIP1#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:2442836" 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/83990/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=83990" 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://wormbase.org/db/gene/gene?name=WBGene00001049;class=Gene" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name'{'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">Wormbase Gene</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-081107-11" 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:83990" 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=BRIP1&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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</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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605882
|
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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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BRCA1-INTERACTING PROTEIN 1; BRIP1
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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>
|
|
<h4>
|
|
<span class="mim-font">
|
|
BRCA1-ASSOCIATED C-TERMINAL HELICASE 1; BACH1<br />
|
|
DELETIONS OF GUANINE-RICH DNA, C. ELEGANS, HOMOLOG OF<br />
|
|
DOG1, HOMOLOG OF<br />
|
|
FANCJ GENE; FANCJ
|
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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">
|
|
<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=BRIP1" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">BRIP1</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/17/824?start=-3&limit=10&highlight=824">17q23.2</a>
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|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr17:61679139-61863528&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'})">17:61,679,139-61,863,528</a> </span>
|
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</em>
|
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</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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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>
|
|
<a id="geneMap" class="mim-anchor"></a>
|
|
<div style="margin-bottom: 10px;">
|
|
<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
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</div>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
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<th>
|
|
Location
|
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</th>
|
|
<th>
|
|
Phenotype
|
|
|
|
<span class="hidden-sm hidden-xs pull-right">
|
|
<a href="/clinicalSynopsis/table?mimNumber=114480,609054" class="label label-warning" onclick="gtag('event', 'mim_link', {'source': 'Entry', 'destination': 'clinicalSynopsisTable'})">
|
|
View Clinical Synopses
|
|
</a>
|
|
</span>
|
|
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
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</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
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</th>
|
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</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="2">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/17/824?start=-3&limit=10&highlight=824">
|
|
17q23.2
|
|
</a>
|
|
</span>
|
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</td>
|
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|
|
|
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<td>
|
|
<span class="mim-font">
|
|
{Breast cancer, early-onset, susceptibility to}
|
|
|
|
</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/114480"> 114480 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
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|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Somatic mutation">SMu</abbr>
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
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|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
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</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">
|
|
Fanconi anemia, complementation group J
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/609054"> 609054 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
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<p><a href="#2" class="mim-tip-reference" title="Cantor, S. B., Bell, D. W., Ganesan, S., Kass, E. M., Drapkin, R., Grossman, S., Wahrer, D. C. R., Sgroi, D. C., Lane, W. S., Haber, D. A., Livingston, D. M. <strong>BACH1, a novel helicase-like protein, interacts directly with BRCA1 and contributes to its DNA repair function.</strong> Cell 105: 149-160, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11301010/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11301010</a>] [<a href="https://doi.org/10.1016/s0092-8674(01)00304-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11301010">Cantor et al. (2001)</a> showed that BRCA1 (<a href="/entry/113705">113705</a>) interacts in vivo with a novel protein, BRIP1, which they called BACH1 (BRCA1-associated C-terminal helicase-1), a member of the DEAH helicase family. The predicted 1,249-amino acid BRIP1 protein contains the 7 helicase-specific motifs that are conserved among members of the DEAH family, and the helicase domain includes a nuclear localization signal. Northern blot analysis revealed ubiquitous expression of BRIP1, with highest levels in testis, an expression pattern similar to that of BRCA1. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11301010" 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="#2" class="mim-tip-reference" title="Cantor, S. B., Bell, D. W., Ganesan, S., Kass, E. M., Drapkin, R., Grossman, S., Wahrer, D. C. R., Sgroi, D. C., Lane, W. S., Haber, D. A., Livingston, D. M. <strong>BACH1, a novel helicase-like protein, interacts directly with BRCA1 and contributes to its DNA repair function.</strong> Cell 105: 149-160, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11301010/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11301010</a>] [<a href="https://doi.org/10.1016/s0092-8674(01)00304-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11301010">Cantor et al. (2001)</a> demonstrated that BRIP1 binds directly to the BRCT repeats of BRCA1. A BRIP1 derivative, bearing a mutation in a residue that is essential for catalytic function in other helicases, interfered with normal double-strand break repair in a manner that was dependent on its BRCA1-binding function. Thus, the authors concluded that BRIP1-BRCA1 complex formation contributes to a key BRCA1 activity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11301010" 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>Genes that contribute to tumorigenesis can be broadly classified as either gatekeepers or caretakers (<a href="#7" class="mim-tip-reference" title="Kinzler, K. W., Vogelstein, B. <strong>Gatekeepers and caretakers.</strong> Nature 386: 761-763, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9126728/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9126728</a>] [<a href="https://doi.org/10.1038/386761a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9126728">Kinzler and Vogelstein, 1997</a>). Genes in the gatekeeper class directly regulate cell division or cell death, and their alteration results in the uncontrolled cellular proliferation that characterizes tumor cells. Genes in the caretaker class are involved in DNA metabolic processes and are responsible for maintaining the overall stability of the genome. The inherent stability of DNA sequences varies widely, with some types of sequences being classified as 'at risk motifs' (ARMs) that are particularly prone to accumulating mutations or promoting genome rearrangements. One structural feature of intact genomes is runs of homopolymeric dC/dG. <a href="#4" class="mim-tip-reference" title="Cheung, I., Schertzer, M., Rose, A., Lansdorp, P. M. <strong>Disruption of dog-1 in Caenorhabditis elegans triggers deletions upstream of guanine-rich DNA.</strong> Nature Genet. 31: 405-409, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12101400/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12101400</a>] [<a href="https://doi.org/10.1038/ng928" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12101400">Cheung et al. (2002)</a> described an unusual mutator phenotype in Caenorhabditis elegans characterized by deletions that start around the 3-prime end of polyguanine tracts and terminate at variable positions 5-prime from such tracts. They observed deletions throughout genomic DNA in about half of polyguanine tracts examined, especially those containing 22 or more consecutive guanine nucleotides. The mutator phenotype resulted from disruption of a gene that encodes a protein with characteristics of a DEAH helicase, which <a href="#4" class="mim-tip-reference" title="Cheung, I., Schertzer, M., Rose, A., Lansdorp, P. M. <strong>Disruption of dog-1 in Caenorhabditis elegans triggers deletions upstream of guanine-rich DNA.</strong> Nature Genet. 31: 405-409, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12101400/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12101400</a>] [<a href="https://doi.org/10.1038/ng928" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12101400">Cheung et al. (2002)</a> named dog1 (deletions of guanine-rich DNA). Nematodes mutated in dog1 showed germline as well as somatic deletions in genes containing polyguanine tracts. They proposed that dog1 is required to resolve the secondary structures of guanine-rich DNA that occasionally form during lagging-strand DNA synthesis. <a href="#6" class="mim-tip-reference" title="Jinks-Robertson, S. <strong>The genome's best friend.</strong> Nature Genet. 31: 331-332, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12101401/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12101401</a>] [<a href="https://doi.org/10.1038/ng936" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12101401">Jinks-Robertson (2002)</a>, who referred to dog1 as 'the genome's best friend,' pointed to BACH1 as the structurally most closely related protein in humans and raised the possibility that targeted mutations in BACH1 might show the mutational signature seen in dog1 mutant nematodes. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9126728+12101400+12101401" 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="#13" class="mim-tip-reference" title="Yu, X., Chini, C. C. S., He, M., Mer, G., Chen, J. <strong>The BRCT domain is a phospho-protein binding domain.</strong> Science 302: 639-642, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14576433/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14576433</a>] [<a href="https://doi.org/10.1126/science.1088753" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14576433">Yu et al. (2003)</a> demonstrated that the BRCT domain of BRCA1 directly interacts with phosphorylated BACH1. The specific interaction between BRCA1 and phosphorylated BACH1 is cell cycle regulated and is required for DNA damage-induced checkpoint control during the transition from G2 to M phase of the cell cycle. Further, <a href="#13" class="mim-tip-reference" title="Yu, X., Chini, C. C. S., He, M., Mer, G., Chen, J. <strong>The BRCT domain is a phospho-protein binding domain.</strong> Science 302: 639-642, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14576433/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14576433</a>] [<a href="https://doi.org/10.1126/science.1088753" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14576433">Yu et al. (2003)</a> showed that 2 other BRCT domains interact with their respective physiologic partners in a phosphorylation-dependent manner. Thirteen additional BRCT domains also preferentially bind phosphopeptides rather than nonphosphorylated control peptides. <a href="#13" class="mim-tip-reference" title="Yu, X., Chini, C. C. S., He, M., Mer, G., Chen, J. <strong>The BRCT domain is a phospho-protein binding domain.</strong> Science 302: 639-642, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14576433/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14576433</a>] [<a href="https://doi.org/10.1126/science.1088753" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14576433">Yu et al. (2003)</a> concluded that their data implied that the BRCT domain is a phosphoprotein-binding domain involved in cell cycle control. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14576433" 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="Cantor, S., Drapkin, R., Zhang, F., Lin, Y., Han, J., Pamidi, S., Livingston, D. M. <strong>The BRCA1-associated protein BACH1 is a DNA helicase targeted by clinically relevant inactivating mutations.</strong> Proc. Nat. Acad. Sci. 101: 2357-2362, 2004. Note: Erratum: Proc. Nat. Acad. Sci. 101: 6834 only, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14983014/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14983014</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=14983014[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/10.1073/pnas.0308717101" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14983014">Cantor et al. (2004)</a> determined that BRIP1 is both a DNA-dependent ATPase and a 5-prime-to-3-prime DNA helicase. Helicase activity was strictly ATP dependent and was inhibited by the addition of EDTA, consistent with a requirement for cations. BRIP1 unwound DNA:DNA substrates and RNA:DNA hybrid substrates, but it did not unwind double-stranded RNA. BRIP1 carrying a lys52-to-arg mutation lacked ATPase activity, failed to be stimulated by single-stranded DNA, and was inactive in an unwinding assay. BRIP1 with the clinically relevant mutation pro47 to ala (P47A; <a href="#0001">605882.0001</a>) showed no detectable ATPase activity and complete loss of function, whereas BRIP1 with the clinically relevant mutation met299 to ile (M299I; <a href="#0002">605882.0002</a>) showed elevated ATPase activity, but had limited ability to unwind DNA substrates of more than 19 basepairs. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14983014" 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="#1" class="mim-tip-reference" title="Bridge, W. L., Vandenberg, C. J., Franklin, R. J., Hiom, K. <strong>The BRIP1 helicase functions independently of BRCA1 in the Fanconi anemia pathway for DNA crosslink repair.</strong> Nature Genet. 37: 953-957, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16116421/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16116421</a>] [<a href="https://doi.org/10.1038/ng1627" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16116421">Bridge et al. (2005)</a> cloned the chicken ortholog of BRIP1 and established a homologous knockout in the avian B-cell line DT40. The phenotype of these brip1 mutant cells in response to DNA damage differed from that of brca1 mutant cells and more closely resembled that of fancc (<a href="/entry/613899">613899</a>) mutant cells, with a profound sensitivity to the DNA-crosslinking agent cisplatin and acute cell-cycle arrest in late S-G2 phase. These defects were corrected by expression of human BRIP1 lacking the BRCT interaction domain. Moreover, in human cells exposed to mitomycin C, short interfering RNA-mediated knockdown of BRIP1 led to a substantial increase in chromosome aberrations, a characteristic phenotype of cells derived from individuals with Fanconi anemia (see FANCJ; <a href="/entry/609054">609054</a>). Because brip1 mutant cells are proficient for the ubiquitination of FANCD2 protein (<a href="/entry/613984">613984</a>), these data indicated that brip1 has a function in the Fanconi anemia pathway that is independent of BRCA1 and downstream of FANCD2 activation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16116421" 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="Gupta, R., Sharma, S., Sommers, J. A., Kenny, M. K., Cantor, S. B., Brosh, R. M., Jr. <strong>FANCJ (BACH1) helicase forms DNA damage inducible foci with replication protein A and interacts physically and functionally with the single-stranded DNA-binding protein.</strong> Blood 110: 2390-2398, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17596542/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17596542</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17596542[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/10.1182/blood-2006-11-057273" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17596542">Gupta et al. (2007)</a> found that FANCJ immunoprecipitated with RPA (see RPA70, or RPA1; <a href="/entry/179835">179835</a>), a multiprotein single-stranded DNA-binding complex implicated in DNA replication and repair. FANCJ and RPA colocalized in nuclear foci after DNA damage or replication stress. FANCJ and RPA bound with high affinity via the RPA70 subunit. Although FANCJ showed limited ability to unwind even a 47-bp forked duplex, the presence of RPA enabled FANCJ to act as a much more processive helicase. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17596542" 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>By genomic analysis, <a href="#2" class="mim-tip-reference" title="Cantor, S. B., Bell, D. W., Ganesan, S., Kass, E. M., Drapkin, R., Grossman, S., Wahrer, D. C. R., Sgroi, D. C., Lane, W. S., Haber, D. A., Livingston, D. M. <strong>BACH1, a novel helicase-like protein, interacts directly with BRCA1 and contributes to its DNA repair function.</strong> Cell 105: 149-160, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11301010/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11301010</a>] [<a href="https://doi.org/10.1016/s0092-8674(01)00304-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11301010">Cantor et al. (2001)</a> mapped the BRIP1 gene to chromosome 17q22. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11301010" 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="#2" class="mim-tip-reference" title="Cantor, S. B., Bell, D. W., Ganesan, S., Kass, E. M., Drapkin, R., Grossman, S., Wahrer, D. C. R., Sgroi, D. C., Lane, W. S., Haber, D. A., Livingston, D. M. <strong>BACH1, a novel helicase-like protein, interacts directly with BRCA1 and contributes to its DNA repair function.</strong> Cell 105: 149-160, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11301010/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11301010</a>] [<a href="https://doi.org/10.1016/s0092-8674(01)00304-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11301010">Cantor et al. (2001)</a> identified germline BRIP1 mutations affecting the helicase domain in 2 of 65 patients with early-onset breast cancer (<a href="/entry/114480">114480</a>), of whom 35 had a strong family history of breast and/or ovarian cancer but lacked mutations in either the BRCA1 or BRCA2 (<a href="/entry/600185">600185</a>) genes. The mutations were not found in 200 matched controls. The authors concluded that like BRCA1, BRIP1 may be a target of germline cancer-inducing mutations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11301010" 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="Seal, S., Thompson, D., Renwick, A., Elliott, A., Kelly, P., Barfoot, R., Chagtai, T., Jayatilake, H., Ahmed, M., Spanova, K., North, B., McGuffog, L., Evans, D. G., Eccles, D., Breast Cancer Susceptibility Collaboration (UK), Easton, D. F., Stratton, M. R., Rahman, N. <strong>Truncating mutations in the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility alleles.</strong> Nature Genet. 38: 1239-1241, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17033622/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17033622</a>] [<a href="https://doi.org/10.1038/ng1902" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17033622">Seal et al. (2006)</a> identified constitutional truncating mutations of the BRCA1-interacting helicase BRIP1 in 9 of 1,212 individuals with breast cancer from BRCA1/BRCA2 mutation-negative families but in only 2 of 2,081 controls (p = 0.0030). They estimated that BRIP1 mutations confer a relative risk of breast cancer of 2.0 (95% confidence interval = 1.2-3.2). Thus, as in the case of BRCA2, inactivating truncating mutations of BRIP1 cause Fanconi anemia in biallelic carriers and confer susceptibility to breast cancer in monoallelic carriers. Of note, biallelic mutations of the breast cancer susceptibility gene BRCA2 cause Fanconi anemia complementation group D1 (<a href="/entry/605724">605724</a>) (<a href="#10" class="mim-tip-reference" title="Litman, R., Peng, M., Jin, Z., Zhang, F., Zhang, J., Powell, S., Andreassen P. R., Cantor, S. B. <strong>BACH1 is critical for homologous recombination and appears to be the Fanconi anemia gene product FANCJ.</strong> Cancer Cell 8: 255-265, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16153896/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16153896</a>] [<a href="https://doi.org/10.1016/j.ccr.2005.08.004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16153896">Litman et al., 2005</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=17033622+16153896" 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>Fanconi Anemia, Complementation Group J</em></strong></p><p>
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Using genetic mapping, mutation identification, and Western blot data, <a href="#9" class="mim-tip-reference" title="Levran, O., Attwooll, C., Henry, R. T., Milton, K. L., Neveling, K., Rio, P., Batish, S. D., Kalb, R., Velleur, E., Barral, S., Ott, J., Petrini, J., Schindler, D., Hanenberg, H., Auerbach, A. D. <strong>The BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemia.</strong> Nature Genet. 37: 931-933, 2005. Note: Addendum: Nature Genet. 37: 1296 only, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16116424/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16116424</a>] [<a href="https://doi.org/10.1038/ng1624" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16116424">Levran et al. (2005)</a> identified the defective protein in FA-J cells (FANCJ; <a href="/entry/609054">609054</a>) as BRIP1. Genome scans identified a statistically significant region of homozygosity of 6 Mb on 17q23. In this region, 2 affected Inuit sibs shared the same haplotype for 48 SNPs; the haplotype of another Inuit individual differed by only 1 SNP, leaving a 4.5-Mb region of shared haplotype among the Inuit individuals. Each of 2 Hispanic individuals had a unique haplotype; the extent of the homozygous region was different in each individual. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16116424" 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>After numerous unsuccessful attempts to identify the gene mutated in FA-J (FANCJ), using a complementation cloning strategy, <a href="#8" class="mim-tip-reference" title="Levitus, M., Waisfisz, Q., Godthelp, B. C., de Vries, Y., Hussain, S., Wiegant, W. W., Elghalbzouri-Maghrani, E., Steltenpool, J., Rooimans, M. A., Pals, G., Arwert, F., Mathew, C. G., Zdzienicka, M. Z., Hiom, K., De Winter, J. P., Joenje, H. <strong>The DNA helicase BRIP1 is defective in Fanconi anemia complementation group J.</strong> Nature Genet. 37: 934-935, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16116423/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16116423</a>] [<a href="https://doi.org/10.1038/ng1625" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16116423">Levitus et al. (2005)</a> attempted positional cloning. By means of a genomewide scan using closely positioned polymorphic markers, they identified the largest region of homozygosity on chromosome 17 and studied this region in more detail in informative families with FA-J. They also tested chromosome 17 for complementation of the Fanconi anemia defect by microcell-mediated chromosome transfer. Boundaries of the chromosome 17 fragment and information from the genomewide screen in genetically informative families narrowed the FANCJ candidate region. They found that BRIP1 resided in the critical linkage region and considered it a good candidate because chicken DT40 cells lacking BRIP1 expression have a Fanconi anemia-like phenotype. They sequenced this gene in families with FA-J and identified mutation in all affected individuals that segregated with disease status in informative families. They found a recurrent nonsense mutation, R798X in exon 17 (<a href="#0003">605882.0003</a>), in 5 alleles from 4 individuals of diverse geographic origin, suggesting that it might be a hotspot or an ancient mutation. All other mutations were private. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16116423" 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>Susceptibility to Ovarian Cancer</em></strong></p><p>
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For discussion of a possible association between susceptibility to ovarian cancer and variation in the BRIP1 gene, see <a href="/entry/167000">167000</a>.</p>
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<strong>ALLELIC VARIANTS (<a href="/help/faq#1_4"></strong>
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<strong>4 Selected Examples</a>):</strong>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=605882[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> rs28903098 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs28903098;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/rs28903098?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=rs28903098" 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=rs28903098" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p><a href="#2" class="mim-tip-reference" title="Cantor, S. B., Bell, D. W., Ganesan, S., Kass, E. M., Drapkin, R., Grossman, S., Wahrer, D. C. R., Sgroi, D. C., Lane, W. S., Haber, D. A., Livingston, D. M. <strong>BACH1, a novel helicase-like protein, interacts directly with BRCA1 and contributes to its DNA repair function.</strong> Cell 105: 149-160, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11301010/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11301010</a>] [<a href="https://doi.org/10.1016/s0092-8674(01)00304-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11301010">Cantor et al. (2001)</a> identified a heterozygous C-to-G transversion at nucleotide 139 of the BRIP1 gene, resulting in a pro47-to-ala mutation, in an individual with early-onset breast cancer (<a href="/entry/114480">114480</a>) and a family history of breast and ovarian cancer. This mutation occurred in the helicase domain of the BRIP1 protein and was not found in 200 controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11301010" 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="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000005003 OR RCV000582137 OR RCV000636166 OR RCV004799733" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000005003, RCV000582137, RCV000636166, RCV004799733" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000005003...</a>
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<p><a href="#2" class="mim-tip-reference" title="Cantor, S. B., Bell, D. W., Ganesan, S., Kass, E. M., Drapkin, R., Grossman, S., Wahrer, D. C. R., Sgroi, D. C., Lane, W. S., Haber, D. A., Livingston, D. M. <strong>BACH1, a novel helicase-like protein, interacts directly with BRCA1 and contributes to its DNA repair function.</strong> Cell 105: 149-160, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11301010/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11301010</a>] [<a href="https://doi.org/10.1016/s0092-8674(01)00304-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11301010">Cantor et al. (2001)</a> identified a heterozygous G-to-A transition at nucleotide 897 of the BRIP1 gene, resulting in a met299-to-ile mutation, in an individual with early-onset breast cancer (<a href="/entry/114480">114480</a>) and a family history of breast and ovarian cancer. This mutation occurred in the helicase domain of the BRIP1 protein and was not found in 200 controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11301010" 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>.0003 FANCONI ANEMIA, COMPLEMENTATION GROUP J</strong>
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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> rs137852986 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs137852986;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/rs137852986?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=rs137852986" 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=rs137852986" 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=RCV000005004 OR RCV000116139 OR RCV000205436 OR RCV000212324 OR RCV000312325 OR RCV000409918 OR RCV000504276 OR RCV000515368 OR RCV000778127 OR RCV000989994 OR RCV001355458 OR RCV001535465 OR RCV003149564 OR RCV003155909 OR RCV003162209" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000005004, RCV000116139, RCV000205436, RCV000212324, RCV000312325, RCV000409918, RCV000504276, RCV000515368, RCV000778127, RCV000989994, RCV001355458, RCV001535465, RCV003149564, RCV003155909, RCV003162209" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000005004...</a>
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<p>In 10 unrelated individuals with Fanconi anemia complementation group J (FANCJ; <a href="/entry/609054">609054</a>), <a href="#9" class="mim-tip-reference" title="Levran, O., Attwooll, C., Henry, R. T., Milton, K. L., Neveling, K., Rio, P., Batish, S. D., Kalb, R., Velleur, E., Barral, S., Ott, J., Petrini, J., Schindler, D., Hanenberg, H., Auerbach, A. D. <strong>The BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemia.</strong> Nature Genet. 37: 931-933, 2005. Note: Addendum: Nature Genet. 37: 1296 only, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16116424/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16116424</a>] [<a href="https://doi.org/10.1038/ng1624" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16116424">Levran et al. (2005)</a> found either homozygosity or compound heterozygosity for the nonsense mutation arg798 to ter (R798X) in the BRIP1 gene. Three of the 10 individuals were compound heterozygotes. The diverse ethnicity included Hispanic, European American, Irish Traveller, and Inuit. Phenotypic and hematologic abnormalities in these 10 affected families included growth retardation, cafe-au-lait spots, microphthalmia, thumb and kidney abnormalities, hearing loss, and bone marrow failure beginning between 2 and 6.5 years. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16116424" 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="#8" class="mim-tip-reference" title="Levitus, M., Waisfisz, Q., Godthelp, B. C., de Vries, Y., Hussain, S., Wiegant, W. W., Elghalbzouri-Maghrani, E., Steltenpool, J., Rooimans, M. A., Pals, G., Arwert, F., Mathew, C. G., Zdzienicka, M. Z., Hiom, K., De Winter, J. P., Joenje, H. <strong>The DNA helicase BRIP1 is defective in Fanconi anemia complementation group J.</strong> Nature Genet. 37: 934-935, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16116423/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16116423</a>] [<a href="https://doi.org/10.1038/ng1625" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16116423">Levitus et al. (2005)</a> found the R798X mutation in 5 alleles from 4 individuals with Fanconi anemia complementation group J of diverse geographic origin: Canada, United Kingdom, Kuwait, and the United States. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16116423" 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>.0004 FANCONI ANEMIA, COMPLEMENTATION GROUP J</strong>
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BRIP1, ALA349PRO
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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> rs149364097 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs149364097;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/rs149364097?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=rs149364097" 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=rs149364097" 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=RCV000023492 OR RCV000120412 OR RCV000131544 OR RCV000216316 OR RCV000466014 OR RCV000761010 OR RCV002271374 OR RCV003335053 OR RCV004528133" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000023492, RCV000120412, RCV000131544, RCV000216316, RCV000466014, RCV000761010, RCV002271374, RCV003335053, RCV004528133" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000023492...</a>
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<p>In a stillborn fetus with a gestational age of 22 weeks and Fanconi anemia complementation group J (FANCJ; <a href="/entry/609054">609054</a>), <a href="#9" class="mim-tip-reference" title="Levran, O., Attwooll, C., Henry, R. T., Milton, K. L., Neveling, K., Rio, P., Batish, S. D., Kalb, R., Velleur, E., Barral, S., Ott, J., Petrini, J., Schindler, D., Hanenberg, H., Auerbach, A. D. <strong>The BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemia.</strong> Nature Genet. 37: 931-933, 2005. Note: Addendum: Nature Genet. 37: 1296 only, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16116424/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16116424</a>] [<a href="https://doi.org/10.1038/ng1624" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16116424">Levran et al. (2005)</a> identified compound heterozygosity for mutations in the BRIP1 gene. The maternally inherited mutation was arg798 to ter (R798X; <a href="#0003">605882.0003</a>). The paternally inherited mutation was a G-to-C transversion at nucleotide 1186 in exon 8 of the BRIP1 gene, resulting in an ala349-to-pro (A349P) substitution. The fetus exhibited intrauterine growth retardation, radial and ulna aplasia, bilateral clubfeet, cleft palate, abnormal facies, and severe gastrointestinal, urogenital, cardiovascular, respiratory, and central nervous system abnormalities. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16116424" 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="Wu, Y., Sommers, J. A., Suhasini, A. N., Leonard, T., Deakyne, J. S., Mazin, A. V., Shin-ya, K., Kitao, H., Brosh, R. M., Jr. <strong>Fanconi anemia group J mutation abolishes its DNA repair function by uncoupling DNA translocation from helicase activity or disruption of protein-DNA complexes.</strong> Blood 116: 3780-3791, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20639400/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20639400</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20639400[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/10.1182/blood-2009-11-256016" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20639400">Wu et al. (2010)</a> stated that BRIP1 ala349 resides immediately adjacent to a highly conserved cysteine of the predicted iron-sulfur (Fe-S) domain. They found that the recombinant wildtype BRIP1 protein possessed 3 Fe atoms per polypeptide, whereas BRIP1 A349P had only 1 Fe atom per polypeptide. BRIP1 A349P did not differ from wildtype recombinant BRIP1 in binding to various DNA substrates, ATPase activity, or ability to translocate along single-stranded DNA in an ATPase-dependent manner. However, unlike wildtype BRIP1, BRIP1 A349P lacked the ability to unwind forked duplex DNA, 3-stranded D-loop DNA, or G4 DNA, was not activated by RPA (see <a href="/entry/179835">179835</a>), and was unable to displace RAD51 (<a href="/entry/179617">179617</a>) from single-stranded DNA. BRIP1 A349P failed to render cells resistant to the effects of the DNA crosslinking agent mitomycin C or the G4 DNA-binding agent telomestatin. <a href="#12" class="mim-tip-reference" title="Wu, Y., Sommers, J. A., Suhasini, A. N., Leonard, T., Deakyne, J. S., Mazin, A. V., Shin-ya, K., Kitao, H., Brosh, R. M., Jr. <strong>Fanconi anemia group J mutation abolishes its DNA repair function by uncoupling DNA translocation from helicase activity or disruption of protein-DNA complexes.</strong> Blood 116: 3780-3791, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20639400/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20639400</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20639400[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/10.1182/blood-2009-11-256016" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20639400">Wu et al. (2010)</a> concluded that BRIP1 A349P exerts a dominant-negative effect on cell survival or DNA damage accumulation after treatment with agents that induce DNA damage or cellular stress. They hypothesized that the mutation may disrupt the accumulation or activity of other DNA repair/checkpoint factors at stalled replication forks. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20639400" 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>REFERENCES</strong>
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<a id="Bridge2005" class="mim-anchor"></a>
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Bridge, W. L., Vandenberg, C. J., Franklin, R. J., Hiom, K.
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<strong>The BRIP1 helicase functions independently of BRCA1 in the Fanconi anemia pathway for DNA crosslink repair.</strong>
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[<a href="https://doi.org/10.1038/ng1627" target="_blank">Full Text</a>]
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Cantor, S. B., Bell, D. W., Ganesan, S., Kass, E. M., Drapkin, R., Grossman, S., Wahrer, D. C. R., Sgroi, D. C., Lane, W. S., Haber, D. A., Livingston, D. M.
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<strong>BACH1, a novel helicase-like protein, interacts directly with BRCA1 and contributes to its DNA repair function.</strong>
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Cell 105: 149-160, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11301010/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11301010</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11301010" 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/s0092-8674(01)00304-x" target="_blank">Full Text</a>]
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Cantor, S., Drapkin, R., Zhang, F., Lin, Y., Han, J., Pamidi, S., Livingston, D. M.
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<strong>The BRCA1-associated protein BACH1 is a DNA helicase targeted by clinically relevant inactivating mutations.</strong>
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Proc. Nat. Acad. Sci. 101: 2357-2362, 2004. Note: Erratum: Proc. Nat. Acad. Sci. 101: 6834 only, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14983014/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14983014</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=14983014[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=14983014" 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.0308717101" target="_blank">Full Text</a>]
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Cheung, I., Schertzer, M., Rose, A., Lansdorp, P. M.
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<strong>Disruption of dog-1 in Caenorhabditis elegans triggers deletions upstream of guanine-rich DNA.</strong>
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[<a href="https://doi.org/10.1038/ng928" target="_blank">Full Text</a>]
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Gupta, R., Sharma, S., Sommers, J. A., Kenny, M. K., Cantor, S. B., Brosh, R. M., Jr.
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<strong>FANCJ (BACH1) helicase forms DNA damage inducible foci with replication protein A and interacts physically and functionally with the single-stranded DNA-binding protein.</strong>
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Blood 110: 2390-2398, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17596542/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17596542</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17596542[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=17596542" 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/10.1182/blood-2006-11-057273" target="_blank">Full Text</a>]
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Jinks-Robertson, S.
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[<a href="https://doi.org/10.1038/386761a0" target="_blank">Full Text</a>]
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Levitus, M., Waisfisz, Q., Godthelp, B. C., de Vries, Y., Hussain, S., Wiegant, W. W., Elghalbzouri-Maghrani, E., Steltenpool, J., Rooimans, M. A., Pals, G., Arwert, F., Mathew, C. G., Zdzienicka, M. Z., Hiom, K., De Winter, J. P., Joenje, H.
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<strong>The DNA helicase BRIP1 is defective in Fanconi anemia complementation group J.</strong>
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Nature Genet. 37: 934-935, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16116423/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16116423</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16116423" 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/ng1625" target="_blank">Full Text</a>]
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</p>
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<a id="9" class="mim-anchor"></a>
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<a id="Levran2005" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Levran, O., Attwooll, C., Henry, R. T., Milton, K. L., Neveling, K., Rio, P., Batish, S. D., Kalb, R., Velleur, E., Barral, S., Ott, J., Petrini, J., Schindler, D., Hanenberg, H., Auerbach, A. D.
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<strong>The BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemia.</strong>
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Nature Genet. 37: 931-933, 2005. Note: Addendum: Nature Genet. 37: 1296 only, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16116424/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16116424</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16116424" 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/ng1624" target="_blank">Full Text</a>]
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</p>
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<a id="10" class="mim-anchor"></a>
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<a id="Litman2005" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Litman, R., Peng, M., Jin, Z., Zhang, F., Zhang, J., Powell, S., Andreassen P. R., Cantor, S. B.
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<strong>BACH1 is critical for homologous recombination and appears to be the Fanconi anemia gene product FANCJ.</strong>
|
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Cancer Cell 8: 255-265, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16153896/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16153896</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16153896" 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/j.ccr.2005.08.004" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="11" class="mim-anchor"></a>
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<a id="Seal2006" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Seal, S., Thompson, D., Renwick, A., Elliott, A., Kelly, P., Barfoot, R., Chagtai, T., Jayatilake, H., Ahmed, M., Spanova, K., North, B., McGuffog, L., Evans, D. G., Eccles, D., Breast Cancer Susceptibility Collaboration (UK), Easton, D. F., Stratton, M. R., Rahman, N.
|
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<strong>Truncating mutations in the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility alleles.</strong>
|
|
Nature Genet. 38: 1239-1241, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17033622/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17033622</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17033622" 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/ng1902" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="12" class="mim-anchor"></a>
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<a id="Wu2010" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Wu, Y., Sommers, J. A., Suhasini, A. N., Leonard, T., Deakyne, J. S., Mazin, A. V., Shin-ya, K., Kitao, H., Brosh, R. M., Jr.
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<strong>Fanconi anemia group J mutation abolishes its DNA repair function by uncoupling DNA translocation from helicase activity or disruption of protein-DNA complexes.</strong>
|
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Blood 116: 3780-3791, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20639400/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20639400</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20639400[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=20639400" 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/10.1182/blood-2009-11-256016" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="13" class="mim-anchor"></a>
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<a id="Yu2003" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Yu, X., Chini, C. C. S., He, M., Mer, G., Chen, J.
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<strong>The BRCT domain is a phospho-protein binding domain.</strong>
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Science 302: 639-642, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14576433/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14576433</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14576433" 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/10.1126/science.1088753" target="_blank">Full Text</a>]
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</p>
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</ol>
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<br />
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<a id="contributors" class="mim-anchor"></a>
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<span class="mim-text-font">
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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 : 9/6/2011
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</span>
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<div class="row collapse" id="mimCollapseContributors">
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<span class="mim-text-font">
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Patricia A. Hartz - updated : 7/11/2011<br>Patricia A. Hartz - updated : 6/18/2008<br>Victor A. McKusick - updated : 11/21/2006<br>Victor A. McKusick - updated : 11/17/2005<br>Victor A. McKusick - updated : 10/6/2005<br>Patricia A. Hartz - updated : 3/16/2004<br>Ada Hamosh - updated : 11/11/2003<br>Victor A. McKusick - updated : 8/1/2002
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</span>
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</div>
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</div>
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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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</span>
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</div>
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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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Stylianos E. Antonarakis : 4/26/2001
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</span>
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<a id="editHistory" class="mim-anchor"></a>
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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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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carol : 04/19/2019
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</span>
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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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carol : 07/06/2016<br>terry : 11/13/2012<br>alopez : 7/26/2012<br>alopez : 7/26/2012<br>terry : 7/23/2012<br>mgross : 9/6/2011<br>mgross : 9/6/2011<br>terry : 7/11/2011<br>wwang : 6/24/2011<br>ckniffin : 5/10/2010<br>mgross : 6/19/2008<br>terry : 6/18/2008<br>wwang : 12/1/2006<br>alopez : 11/28/2006<br>terry : 11/21/2006<br>carol : 8/31/2006<br>alopez : 11/21/2005<br>terry : 11/17/2005<br>alopez : 10/11/2005<br>alopez : 10/10/2005<br>alopez : 10/10/2005<br>terry : 10/6/2005<br>mgross : 3/23/2004<br>terry : 3/16/2004<br>terry : 1/2/2003<br>alopez : 8/1/2002<br>mgross : 4/26/2001
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</span>
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<div class="container visible-print-block">
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<h3>
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<span class="mim-font">
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<strong>*</strong> 605882
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</span>
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<div>
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<h3>
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<span class="mim-font">
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BRCA1-INTERACTING PROTEIN 1; BRIP1
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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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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</p>
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<div>
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<h4>
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<span class="mim-font">
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BRCA1-ASSOCIATED C-TERMINAL HELICASE 1; BACH1<br />
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DELETIONS OF GUANINE-RICH DNA, C. ELEGANS, HOMOLOG OF<br />
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DOG1, HOMOLOG OF<br />
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FANCJ GENE; FANCJ
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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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<strong><em>HGNC Approved Gene Symbol: BRIP1</em></strong>
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<strong>
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<em>
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Cytogenetic location: 17q23.2
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Genomic coordinates <span class="small">(GRCh38)</span> : 17:61,679,139-61,863,528 </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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<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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<td rowspan="2">
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<span class="mim-font">
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17q23.2
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</td>
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<td>
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<span class="mim-font">
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{Breast cancer, early-onset, susceptibility to}
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</span>
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</td>
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<td>
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<span class="mim-font">
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114480
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</td>
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<td>
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<span class="mim-font">
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Autosomal dominant; Somatic mutation
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<td>
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<span class="mim-font">
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3
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<span class="mim-font">
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Fanconi anemia, complementation group J
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</td>
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<span class="mim-font">
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609054
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<span class="mim-font">
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<span class="mim-font">
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3
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</table>
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>Cantor et al. (2001) showed that BRCA1 (113705) interacts in vivo with a novel protein, BRIP1, which they called BACH1 (BRCA1-associated C-terminal helicase-1), a member of the DEAH helicase family. The predicted 1,249-amino acid BRIP1 protein contains the 7 helicase-specific motifs that are conserved among members of the DEAH family, and the helicase domain includes a nuclear localization signal. Northern blot analysis revealed ubiquitous expression of BRIP1, with highest levels in testis, an expression pattern similar to that of BRCA1. </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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<h4>
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<span class="mim-font">
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<strong>Gene Function</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>Cantor et al. (2001) demonstrated that BRIP1 binds directly to the BRCT repeats of BRCA1. A BRIP1 derivative, bearing a mutation in a residue that is essential for catalytic function in other helicases, interfered with normal double-strand break repair in a manner that was dependent on its BRCA1-binding function. Thus, the authors concluded that BRIP1-BRCA1 complex formation contributes to a key BRCA1 activity. </p><p>Genes that contribute to tumorigenesis can be broadly classified as either gatekeepers or caretakers (Kinzler and Vogelstein, 1997). Genes in the gatekeeper class directly regulate cell division or cell death, and their alteration results in the uncontrolled cellular proliferation that characterizes tumor cells. Genes in the caretaker class are involved in DNA metabolic processes and are responsible for maintaining the overall stability of the genome. The inherent stability of DNA sequences varies widely, with some types of sequences being classified as 'at risk motifs' (ARMs) that are particularly prone to accumulating mutations or promoting genome rearrangements. One structural feature of intact genomes is runs of homopolymeric dC/dG. Cheung et al. (2002) described an unusual mutator phenotype in Caenorhabditis elegans characterized by deletions that start around the 3-prime end of polyguanine tracts and terminate at variable positions 5-prime from such tracts. They observed deletions throughout genomic DNA in about half of polyguanine tracts examined, especially those containing 22 or more consecutive guanine nucleotides. The mutator phenotype resulted from disruption of a gene that encodes a protein with characteristics of a DEAH helicase, which Cheung et al. (2002) named dog1 (deletions of guanine-rich DNA). Nematodes mutated in dog1 showed germline as well as somatic deletions in genes containing polyguanine tracts. They proposed that dog1 is required to resolve the secondary structures of guanine-rich DNA that occasionally form during lagging-strand DNA synthesis. Jinks-Robertson (2002), who referred to dog1 as 'the genome's best friend,' pointed to BACH1 as the structurally most closely related protein in humans and raised the possibility that targeted mutations in BACH1 might show the mutational signature seen in dog1 mutant nematodes. </p><p>Yu et al. (2003) demonstrated that the BRCT domain of BRCA1 directly interacts with phosphorylated BACH1. The specific interaction between BRCA1 and phosphorylated BACH1 is cell cycle regulated and is required for DNA damage-induced checkpoint control during the transition from G2 to M phase of the cell cycle. Further, Yu et al. (2003) showed that 2 other BRCT domains interact with their respective physiologic partners in a phosphorylation-dependent manner. Thirteen additional BRCT domains also preferentially bind phosphopeptides rather than nonphosphorylated control peptides. Yu et al. (2003) concluded that their data implied that the BRCT domain is a phosphoprotein-binding domain involved in cell cycle control. </p><p>Cantor et al. (2004) determined that BRIP1 is both a DNA-dependent ATPase and a 5-prime-to-3-prime DNA helicase. Helicase activity was strictly ATP dependent and was inhibited by the addition of EDTA, consistent with a requirement for cations. BRIP1 unwound DNA:DNA substrates and RNA:DNA hybrid substrates, but it did not unwind double-stranded RNA. BRIP1 carrying a lys52-to-arg mutation lacked ATPase activity, failed to be stimulated by single-stranded DNA, and was inactive in an unwinding assay. BRIP1 with the clinically relevant mutation pro47 to ala (P47A; 605882.0001) showed no detectable ATPase activity and complete loss of function, whereas BRIP1 with the clinically relevant mutation met299 to ile (M299I; 605882.0002) showed elevated ATPase activity, but had limited ability to unwind DNA substrates of more than 19 basepairs. </p><p>Bridge et al. (2005) cloned the chicken ortholog of BRIP1 and established a homologous knockout in the avian B-cell line DT40. The phenotype of these brip1 mutant cells in response to DNA damage differed from that of brca1 mutant cells and more closely resembled that of fancc (613899) mutant cells, with a profound sensitivity to the DNA-crosslinking agent cisplatin and acute cell-cycle arrest in late S-G2 phase. These defects were corrected by expression of human BRIP1 lacking the BRCT interaction domain. Moreover, in human cells exposed to mitomycin C, short interfering RNA-mediated knockdown of BRIP1 led to a substantial increase in chromosome aberrations, a characteristic phenotype of cells derived from individuals with Fanconi anemia (see FANCJ; 609054). Because brip1 mutant cells are proficient for the ubiquitination of FANCD2 protein (613984), these data indicated that brip1 has a function in the Fanconi anemia pathway that is independent of BRCA1 and downstream of FANCD2 activation. </p><p>Gupta et al. (2007) found that FANCJ immunoprecipitated with RPA (see RPA70, or RPA1; 179835), a multiprotein single-stranded DNA-binding complex implicated in DNA replication and repair. FANCJ and RPA colocalized in nuclear foci after DNA damage or replication stress. FANCJ and RPA bound with high affinity via the RPA70 subunit. Although FANCJ showed limited ability to unwind even a 47-bp forked duplex, the presence of RPA enabled FANCJ to act as a much more processive helicase. </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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<h4>
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<span class="mim-font">
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<strong>Mapping</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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<p>By genomic analysis, Cantor et al. (2001) mapped the BRIP1 gene to chromosome 17q22. </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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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</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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<p><strong><em>Susceptibility to Breast Cancer</em></strong></p><p>
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Cantor et al. (2001) identified germline BRIP1 mutations affecting the helicase domain in 2 of 65 patients with early-onset breast cancer (114480), of whom 35 had a strong family history of breast and/or ovarian cancer but lacked mutations in either the BRCA1 or BRCA2 (600185) genes. The mutations were not found in 200 matched controls. The authors concluded that like BRCA1, BRIP1 may be a target of germline cancer-inducing mutations. </p><p>Seal et al. (2006) identified constitutional truncating mutations of the BRCA1-interacting helicase BRIP1 in 9 of 1,212 individuals with breast cancer from BRCA1/BRCA2 mutation-negative families but in only 2 of 2,081 controls (p = 0.0030). They estimated that BRIP1 mutations confer a relative risk of breast cancer of 2.0 (95% confidence interval = 1.2-3.2). Thus, as in the case of BRCA2, inactivating truncating mutations of BRIP1 cause Fanconi anemia in biallelic carriers and confer susceptibility to breast cancer in monoallelic carriers. Of note, biallelic mutations of the breast cancer susceptibility gene BRCA2 cause Fanconi anemia complementation group D1 (605724) (Litman et al., 2005). </p><p><strong><em>Fanconi Anemia, Complementation Group J</em></strong></p><p>
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Using genetic mapping, mutation identification, and Western blot data, Levran et al. (2005) identified the defective protein in FA-J cells (FANCJ; 609054) as BRIP1. Genome scans identified a statistically significant region of homozygosity of 6 Mb on 17q23. In this region, 2 affected Inuit sibs shared the same haplotype for 48 SNPs; the haplotype of another Inuit individual differed by only 1 SNP, leaving a 4.5-Mb region of shared haplotype among the Inuit individuals. Each of 2 Hispanic individuals had a unique haplotype; the extent of the homozygous region was different in each individual. </p><p>After numerous unsuccessful attempts to identify the gene mutated in FA-J (FANCJ), using a complementation cloning strategy, Levitus et al. (2005) attempted positional cloning. By means of a genomewide scan using closely positioned polymorphic markers, they identified the largest region of homozygosity on chromosome 17 and studied this region in more detail in informative families with FA-J. They also tested chromosome 17 for complementation of the Fanconi anemia defect by microcell-mediated chromosome transfer. Boundaries of the chromosome 17 fragment and information from the genomewide screen in genetically informative families narrowed the FANCJ candidate region. They found that BRIP1 resided in the critical linkage region and considered it a good candidate because chicken DT40 cells lacking BRIP1 expression have a Fanconi anemia-like phenotype. They sequenced this gene in families with FA-J and identified mutation in all affected individuals that segregated with disease status in informative families. They found a recurrent nonsense mutation, R798X in exon 17 (605882.0003), in 5 alleles from 4 individuals of diverse geographic origin, suggesting that it might be a hotspot or an ancient mutation. All other mutations were private. </p><p><strong><em>Susceptibility to Ovarian Cancer</em></strong></p><p>
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For discussion of a possible association between susceptibility to ovarian cancer and variation in the BRIP1 gene, see 167000.</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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<h4>
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<span class="mim-font">
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<strong>ALLELIC VARIANTS</strong>
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</span>
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<strong>4 Selected Examples):</strong>
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</span>
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</h4>
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<div>
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<p />
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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>.0001 BREAST CANCER, EARLY-ONSET</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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BRIP1, PRO47ALA
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<br />
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SNP: rs28903098,
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gnomAD: rs28903098,
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ClinVar: RCV000005002, RCV000116124, RCV000199377, RCV000200979, RCV000409748, RCV000410864, RCV000587908, RCV000778130, RCV000990044, RCV001090025, RCV003149563, RCV005089172
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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>Cantor et al. (2001) identified a heterozygous C-to-G transversion at nucleotide 139 of the BRIP1 gene, resulting in a pro47-to-ala mutation, in an individual with early-onset breast cancer (114480) and a family history of breast and ovarian cancer. This mutation occurred in the helicase domain of the BRIP1 protein and was not found in 200 controls. </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>.0002 BREAST CANCER, EARLY-ONSET</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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BRIP1, MET299ILE
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<br />
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SNP: rs137852985,
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ClinVar: RCV000005003, RCV000582137, RCV000636166, RCV004799733
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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>Cantor et al. (2001) identified a heterozygous G-to-A transition at nucleotide 897 of the BRIP1 gene, resulting in a met299-to-ile mutation, in an individual with early-onset breast cancer (114480) and a family history of breast and ovarian cancer. This mutation occurred in the helicase domain of the BRIP1 protein and was not found in 200 controls. </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>.0003 FANCONI ANEMIA, COMPLEMENTATION GROUP J</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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BRIP1, ARG798TER
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<br />
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SNP: rs137852986,
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gnomAD: rs137852986,
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ClinVar: RCV000005004, RCV000116139, RCV000205436, RCV000212324, RCV000312325, RCV000409918, RCV000504276, RCV000515368, RCV000778127, RCV000989994, RCV001355458, RCV001535465, RCV003149564, RCV003155909, RCV003162209
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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 10 unrelated individuals with Fanconi anemia complementation group J (FANCJ; 609054), Levran et al. (2005) found either homozygosity or compound heterozygosity for the nonsense mutation arg798 to ter (R798X) in the BRIP1 gene. Three of the 10 individuals were compound heterozygotes. The diverse ethnicity included Hispanic, European American, Irish Traveller, and Inuit. Phenotypic and hematologic abnormalities in these 10 affected families included growth retardation, cafe-au-lait spots, microphthalmia, thumb and kidney abnormalities, hearing loss, and bone marrow failure beginning between 2 and 6.5 years. </p><p>Levitus et al. (2005) found the R798X mutation in 5 alleles from 4 individuals with Fanconi anemia complementation group J of diverse geographic origin: Canada, United Kingdom, Kuwait, and the United States. </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>.0004 FANCONI ANEMIA, COMPLEMENTATION GROUP J</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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BRIP1, ALA349PRO
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<br />
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SNP: rs149364097,
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gnomAD: rs149364097,
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|
ClinVar: RCV000023492, RCV000120412, RCV000131544, RCV000216316, RCV000466014, RCV000761010, RCV002271374, RCV003335053, RCV004528133
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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 stillborn fetus with a gestational age of 22 weeks and Fanconi anemia complementation group J (FANCJ; 609054), Levran et al. (2005) identified compound heterozygosity for mutations in the BRIP1 gene. The maternally inherited mutation was arg798 to ter (R798X; 605882.0003). The paternally inherited mutation was a G-to-C transversion at nucleotide 1186 in exon 8 of the BRIP1 gene, resulting in an ala349-to-pro (A349P) substitution. The fetus exhibited intrauterine growth retardation, radial and ulna aplasia, bilateral clubfeet, cleft palate, abnormal facies, and severe gastrointestinal, urogenital, cardiovascular, respiratory, and central nervous system abnormalities. </p><p>Wu et al. (2010) stated that BRIP1 ala349 resides immediately adjacent to a highly conserved cysteine of the predicted iron-sulfur (Fe-S) domain. They found that the recombinant wildtype BRIP1 protein possessed 3 Fe atoms per polypeptide, whereas BRIP1 A349P had only 1 Fe atom per polypeptide. BRIP1 A349P did not differ from wildtype recombinant BRIP1 in binding to various DNA substrates, ATPase activity, or ability to translocate along single-stranded DNA in an ATPase-dependent manner. However, unlike wildtype BRIP1, BRIP1 A349P lacked the ability to unwind forked duplex DNA, 3-stranded D-loop DNA, or G4 DNA, was not activated by RPA (see 179835), and was unable to displace RAD51 (179617) from single-stranded DNA. BRIP1 A349P failed to render cells resistant to the effects of the DNA crosslinking agent mitomycin C or the G4 DNA-binding agent telomestatin. Wu et al. (2010) concluded that BRIP1 A349P exerts a dominant-negative effect on cell survival or DNA damage accumulation after treatment with agents that induce DNA damage or cellular stress. They hypothesized that the mutation may disrupt the accumulation or activity of other DNA repair/checkpoint factors at stalled replication forks. </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>
|
|
<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">
|
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Bridge, W. L., Vandenberg, C. J., Franklin, R. J., Hiom, K.
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<strong>The BRIP1 helicase functions independently of BRCA1 in the Fanconi anemia pathway for DNA crosslink repair.</strong>
|
|
Nature Genet. 37: 953-957, 2005.
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[PubMed: 16116421]
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[Full Text: https://doi.org/10.1038/ng1627]
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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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Cantor, S. B., Bell, D. W., Ganesan, S., Kass, E. M., Drapkin, R., Grossman, S., Wahrer, D. C. R., Sgroi, D. C., Lane, W. S., Haber, D. A., Livingston, D. M.
|
|
<strong>BACH1, a novel helicase-like protein, interacts directly with BRCA1 and contributes to its DNA repair function.</strong>
|
|
Cell 105: 149-160, 2001.
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|
[PubMed: 11301010]
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[Full Text: https://doi.org/10.1016/s0092-8674(01)00304-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">
|
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Cantor, S., Drapkin, R., Zhang, F., Lin, Y., Han, J., Pamidi, S., Livingston, D. M.
|
|
<strong>The BRCA1-associated protein BACH1 is a DNA helicase targeted by clinically relevant inactivating mutations.</strong>
|
|
Proc. Nat. Acad. Sci. 101: 2357-2362, 2004. Note: Erratum: Proc. Nat. Acad. Sci. 101: 6834 only, 2004.
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[PubMed: 14983014]
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[Full Text: https://doi.org/10.1073/pnas.0308717101]
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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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Cheung, I., Schertzer, M., Rose, A., Lansdorp, P. M.
|
|
<strong>Disruption of dog-1 in Caenorhabditis elegans triggers deletions upstream of guanine-rich DNA.</strong>
|
|
Nature Genet. 31: 405-409, 2002.
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[PubMed: 12101400]
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[Full Text: https://doi.org/10.1038/ng928]
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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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Gupta, R., Sharma, S., Sommers, J. A., Kenny, M. K., Cantor, S. B., Brosh, R. M., Jr.
|
|
<strong>FANCJ (BACH1) helicase forms DNA damage inducible foci with replication protein A and interacts physically and functionally with the single-stranded DNA-binding protein.</strong>
|
|
Blood 110: 2390-2398, 2007.
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[PubMed: 17596542]
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[Full Text: https://doi.org/10.1182/blood-2006-11-057273]
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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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Jinks-Robertson, S.
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<strong>The genome's best friend.</strong>
|
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Nature Genet. 31: 331-332, 2002.
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[PubMed: 12101401]
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[Full Text: https://doi.org/10.1038/ng936]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Kinzler, K. W., Vogelstein, B.
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|
<strong>Gatekeepers and caretakers.</strong>
|
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Nature 386: 761-763, 1997.
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[PubMed: 9126728]
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[Full Text: https://doi.org/10.1038/386761a0]
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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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Levitus, M., Waisfisz, Q., Godthelp, B. C., de Vries, Y., Hussain, S., Wiegant, W. W., Elghalbzouri-Maghrani, E., Steltenpool, J., Rooimans, M. A., Pals, G., Arwert, F., Mathew, C. G., Zdzienicka, M. Z., Hiom, K., De Winter, J. P., Joenje, H.
|
|
<strong>The DNA helicase BRIP1 is defective in Fanconi anemia complementation group J.</strong>
|
|
Nature Genet. 37: 934-935, 2005.
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|
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[PubMed: 16116423]
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[Full Text: https://doi.org/10.1038/ng1625]
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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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Levran, O., Attwooll, C., Henry, R. T., Milton, K. L., Neveling, K., Rio, P., Batish, S. D., Kalb, R., Velleur, E., Barral, S., Ott, J., Petrini, J., Schindler, D., Hanenberg, H., Auerbach, A. D.
|
|
<strong>The BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemia.</strong>
|
|
Nature Genet. 37: 931-933, 2005. Note: Addendum: Nature Genet. 37: 1296 only, 2005.
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[PubMed: 16116424]
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[Full Text: https://doi.org/10.1038/ng1624]
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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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Litman, R., Peng, M., Jin, Z., Zhang, F., Zhang, J., Powell, S., Andreassen P. R., Cantor, S. B.
|
|
<strong>BACH1 is critical for homologous recombination and appears to be the Fanconi anemia gene product FANCJ.</strong>
|
|
Cancer Cell 8: 255-265, 2005.
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[PubMed: 16153896]
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[Full Text: https://doi.org/10.1016/j.ccr.2005.08.004]
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</p>
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</li>
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Seal, S., Thompson, D., Renwick, A., Elliott, A., Kelly, P., Barfoot, R., Chagtai, T., Jayatilake, H., Ahmed, M., Spanova, K., North, B., McGuffog, L., Evans, D. G., Eccles, D., Breast Cancer Susceptibility Collaboration (UK), Easton, D. F., Stratton, M. R., Rahman, N.
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<strong>Truncating mutations in the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility alleles.</strong>
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[PubMed: 17033622]
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[Full Text: https://doi.org/10.1038/ng1902]
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Wu, Y., Sommers, J. A., Suhasini, A. N., Leonard, T., Deakyne, J. S., Mazin, A. V., Shin-ya, K., Kitao, H., Brosh, R. M., Jr.
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<strong>Fanconi anemia group J mutation abolishes its DNA repair function by uncoupling DNA translocation from helicase activity or disruption of protein-DNA complexes.</strong>
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Blood 116: 3780-3791, 2010.
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[PubMed: 20639400]
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[Full Text: https://doi.org/10.1182/blood-2009-11-256016]
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Yu, X., Chini, C. C. S., He, M., Mer, G., Chen, J.
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<strong>The BRCT domain is a phospho-protein binding domain.</strong>
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Science 302: 639-642, 2003.
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[PubMed: 14576433]
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[Full Text: https://doi.org/10.1126/science.1088753]
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Matthew B. Gross - updated : 9/6/2011<br>Patricia A. Hartz - updated : 7/11/2011<br>Patricia A. Hartz - updated : 6/18/2008<br>Victor A. McKusick - updated : 11/21/2006<br>Victor A. McKusick - updated : 11/17/2005<br>Victor A. McKusick - updated : 10/6/2005<br>Patricia A. Hartz - updated : 3/16/2004<br>Ada Hamosh - updated : 11/11/2003<br>Victor A. McKusick - updated : 8/1/2002
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Stylianos E. Antonarakis : 4/26/2001
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