Pathogenicity of the BRCA1 missense variant M1775K is determined by the disruption of the BRCT phosphopeptide-binding pocket: a multi-modal approach
Identifieur interne : 000349 ( Ncbi/Merge ); précédent : 000348; suivant : 000350Pathogenicity of the BRCA1 missense variant M1775K is determined by the disruption of the BRCT phosphopeptide-binding pocket: a multi-modal approach
Auteurs : Marc Tischkowitz [Canada] ; Nancy Hamel [Canada] ; Marcelo A. Carvalho [États-Unis, Brésil] ; Gabriel Birrane [États-Unis] ; Aditi Soni [États-Unis] ; Erik H. Van Beers [Pays-Bas] ; Simon A. Joosse [Pays-Bas] ; Nora Wong [Canada] ; David Novak [Canada] ; Louise A. Quenneville [Canada] ; Scott A. Grist [Australie] ; Petra M. Nederlof [Pays-Bas] ; David E. Goldgar [États-Unis] ; Sean V. Tavtigian [France] ; Alvaro N. Monteiro [États-Unis] ; John Aa Ladias [États-Unis] ; William D. Foulkes [Canada]Source :
- European journal of human genetics : EJHG [ 1018-4813 ] ; 2008.
Abstract
A number of germ-line mutations in the
Url:
DOI: 10.1038/ejhg.2008.13
PubMed: 18285836
PubMed Central: 3905962
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PMC:3905962Le document en format XML
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missense variant M1775K is determined by the disruption of the BRCT phosphopeptide-binding pocket: a multi-modal approach</title>
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Pathogenicity of the <italic>BRCA1</italic>
missense variant M1775K is determined by the disruption of the BRCT phosphopeptide-binding pocket: a multi-modal approach</title>
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</affiliation>
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<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Dermatology, University of Utah School of Medicine, Salt Lake City, UT</wicri:regionArea>
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</placeName>
</affiliation>
</author>
<author><name sortKey="Tavtigian, Sean V" sort="Tavtigian, Sean V" uniqKey="Tavtigian S" first="Sean V" last="Tavtigian">Sean V. Tavtigian</name>
<affiliation wicri:level="3"><nlm:aff id="A12">International Agency for Research on Cancer, World Health Organization, Lyon, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>International Agency for Research on Cancer, World Health Organization, Lyon</wicri:regionArea>
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</placeName>
</affiliation>
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<author><name sortKey="Ladias, John Aa" sort="Ladias, John Aa" uniqKey="Ladias J" first="John Aa" last="Ladias">John Aa Ladias</name>
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<country xml:lang="fr">États-Unis</country>
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<wicri:regionArea>Department of Oncology, Segal Cancer Centre, Sir M.B. Davis-Jewish General Hospital, Montréal, Quebec</wicri:regionArea>
<wicri:noRegion>Quebec</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="A3">Department of Medicine, The Research Institute, McGill University Health Centre, Montréal, Quebec, Canada</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Department of Medicine, The Research Institute, McGill University Health Centre, Montréal, Quebec</wicri:regionArea>
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<series><title level="j">European journal of human genetics : EJHG</title>
<idno type="ISSN">1018-4813</idno>
<idno type="eISSN">1476-5438</idno>
<imprint><date when="2008">2008</date>
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<front><div type="abstract" xml:lang="en"><p id="P1">A number of germ-line mutations in the <italic>BRCA1</italic>
gene confer susceptibility to breast and ovarian cancer. However, it remains difficult to determine whether many single amino-acid (missense) changes in the BRCA1 protein that are frequently detected in the clinical setting are pathologic or not. Here, we used a combination of functional, crystallographic, biophysical, molecular and evolutionary techniques, and classical genetic segregation analysis to demonstrate that the <italic>BRCA1</italic>
missense variant M1775K is pathogenic. Functional assays in yeast and mammalian cells showed that the BRCA1 BRCT domains carrying the amino-acid change M1775K displayed markedly reduced transcriptional activity, indicating that this variant represents a deleterious mutation. Importantly, the M1775K mutation disrupted the phosphopeptide-binding pocket of the BRCA1 BRCT domains, thereby inhibiting the BRCA1 interaction with the proteins BRIP1 and CtIP, which are involved in DNA damage-induced checkpoint control. These results indicate that the integrity of the BRCT phosphopeptide-binding pocket is critical for the tumor suppression function of BRCA1. Moreover, this study demonstrates that multiple lines of evidence obtained from a combination of functional, structural, molecular and evolutionary techniques, and classical genetic segregation analysis are required to confirm the pathogenicity of rare variants of disease-susceptibility genes and obtain important insights into the underlying pathogenetic mechanisms.</p>
</div>
</front>
</TEI>
<pmc article-type="research-article"><pmc-comment>The publisher of this article does not allow downloading of the full text in XML form.</pmc-comment>
<pmc-dir>properties manuscript</pmc-dir>
<front><journal-meta><journal-id journal-id-type="nlm-journal-id">9302235</journal-id>
<journal-id journal-id-type="pubmed-jr-id">8515</journal-id>
<journal-id journal-id-type="nlm-ta">Eur J Hum Genet</journal-id>
<journal-id journal-id-type="iso-abbrev">Eur. J. Hum. Genet.</journal-id>
<journal-title-group><journal-title>European journal of human genetics : EJHG</journal-title>
</journal-title-group>
<issn pub-type="ppub">1018-4813</issn>
<issn pub-type="epub">1476-5438</issn>
</journal-meta>
<article-meta><article-id pub-id-type="pmid">18285836</article-id>
<article-id pub-id-type="pmc">3905962</article-id>
<article-id pub-id-type="doi">10.1038/ejhg.2008.13</article-id>
<article-id pub-id-type="manuscript">NIHMS340193</article-id>
<article-categories><subj-group subj-group-type="heading"><subject>Article</subject>
</subj-group>
</article-categories>
<title-group><article-title>Pathogenicity of the <italic>BRCA1</italic>
missense variant M1775K is determined by the disruption of the BRCT phosphopeptide-binding pocket: a multi-modal approach</article-title>
</title-group>
<contrib-group><contrib contrib-type="author"><name><surname>Tischkowitz</surname>
<given-names>Marc</given-names>
</name>
<xref ref-type="aff" rid="A1">1</xref>
<xref ref-type="aff" rid="A2">2</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Hamel</surname>
<given-names>Nancy</given-names>
</name>
<xref ref-type="aff" rid="A1">1</xref>
<xref ref-type="aff" rid="A3">3</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Carvalho</surname>
<given-names>Marcelo A</given-names>
</name>
<xref ref-type="aff" rid="A4">4</xref>
<xref ref-type="aff" rid="A5">5</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Birrane</surname>
<given-names>Gabriel</given-names>
</name>
<xref ref-type="aff" rid="A6">6</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Soni</surname>
<given-names>Aditi</given-names>
</name>
<xref ref-type="aff" rid="A6">6</xref>
</contrib>
<contrib contrib-type="author"><name><surname>van Beers</surname>
<given-names>Erik H</given-names>
</name>
<xref ref-type="aff" rid="A7">7</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Joosse</surname>
<given-names>Simon A</given-names>
</name>
<xref ref-type="aff" rid="A7">7</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Wong</surname>
<given-names>Nora</given-names>
</name>
<xref ref-type="aff" rid="A1">1</xref>
<xref ref-type="aff" rid="A2">2</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Novak</surname>
<given-names>David</given-names>
</name>
<xref ref-type="aff" rid="A1">1</xref>
<xref ref-type="aff" rid="A3">3</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Quenneville</surname>
<given-names>Louise A</given-names>
</name>
<xref ref-type="aff" rid="A8">8</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Grist</surname>
<given-names>Scott A</given-names>
</name>
<xref ref-type="aff" rid="A9">9</xref>
</contrib>
<contrib contrib-type="author"><name><surname>kConFab</surname>
<given-names></given-names>
</name>
<xref ref-type="aff" rid="A10">10</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Nederlof</surname>
<given-names>Petra M</given-names>
</name>
<xref ref-type="aff" rid="A7">7</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Goldgar</surname>
<given-names>David E</given-names>
</name>
<xref ref-type="aff" rid="A11">11</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Tavtigian</surname>
<given-names>Sean V</given-names>
</name>
<xref ref-type="aff" rid="A12">12</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Monteiro</surname>
<given-names>Alvaro N</given-names>
</name>
<xref ref-type="aff" rid="A4">4</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Ladias</surname>
<given-names>John AA</given-names>
</name>
<xref ref-type="aff" rid="A6">6</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Foulkes</surname>
<given-names>William D</given-names>
</name>
<xref ref-type="corresp" rid="CR1">*</xref>
<xref ref-type="aff" rid="A1">1</xref>
<xref ref-type="aff" rid="A2">2</xref>
<xref ref-type="aff" rid="A3">3</xref>
</contrib>
</contrib-group>
<aff id="A1"><label>1</label>
Program in Cancer Genetics, Departments of Oncology, Human Genetics and Medicine, McGill University, Montréal, Quebec, Canada</aff>
<aff id="A2"><label>2</label>
Department of Oncology, Segal Cancer Centre, Sir M.B. Davis-Jewish General Hospital, Montréal, Quebec, Canada</aff>
<aff id="A3"><label>3</label>
Department of Medicine, The Research Institute, McGill University Health Centre, Montréal, Quebec, Canada</aff>
<aff id="A4"><label>4</label>
Risk Assessment, Detection, and Intervention Program, H. Lee Moffitt Cancer Center & Research Institute, Tampa, FL, USA</aff>
<aff id="A5"><label>5</label>
Centro Federal de Educação Tecnológica de Química, Rio de Janeiro, Brazil</aff>
<aff id="A6"><label>6</label>
Department of Medicine, Molecular Medicine Laboratory and Macromolecular Crystallography Unit, Division of Experimental Medicine, Harvard Institutes of Medicine, Harvard Medical School, Boston, MA, USA</aff>
<aff id="A7"><label>7</label>
Division of Experimental Therapy and Department of Pathology, Netherlands Cancer Institute, Amsterdam, The Netherlands</aff>
<aff id="A8"><label>8</label>
Department of Pathology, Sir M.B. Davis-Jewish General Hospital, McGill University, Montréal, Quebec, Canada</aff>
<aff id="A9"><label>9</label>
Department of Hematology & Genetic Pathology, Flinders Medical Centre, Flinders University of South Australia, Adelaide, South Australia, Australia</aff>
<aff id="A10"><label>10</label>
Kathleen Cuningham Consortium for Research into Familial Breast Cancer, Peter MacCallum Cancer Institute, East Melbourne, Victoria, Australia</aff>
<aff id="A11"><label>11</label>
Department of Dermatology, University of Utah School of Medicine, Salt Lake City, UT, USA</aff>
<aff id="A12"><label>12</label>
International Agency for Research on Cancer, World Health Organization, Lyon, France</aff>
<author-notes><corresp id="CR1"><label>*</label>
Correspondence: William D Foulkes, Segal Cancer Centre, 3755 Côte Ste Catherine Road, Sir MB Davis-Jewish General Hospital, A802, Montreal, QC, Canada H3T 1E2. Tel: + 1 514 340 8222 Ext. 3965; Fax: + 1 514 340 8712; <email>william.foulkes@mcgill.ca</email>
</corresp>
</author-notes>
<pub-date pub-type="nihms-submitted"><day>2</day>
<month>1</month>
<year>2014</year>
</pub-date>
<pub-date pub-type="epub"><day>20</day>
<month>2</month>
<year>2008</year>
</pub-date>
<pub-date pub-type="ppub"><month>7</month>
<year>2008</year>
</pub-date>
<pub-date pub-type="pmc-release"><day>29</day>
<month>1</month>
<year>2014</year>
</pub-date>
<volume>16</volume>
<issue>7</issue>
<fpage>820</fpage>
<lpage>832</lpage>
<pmc-comment>elocation-id from pubmed: 10.1038/ejhg.2008.13</pmc-comment>
<permissions><copyright-statement>© 2008 Nature Publishing Group All rights reserved</copyright-statement>
<copyright-year>2008</copyright-year>
</permissions>
<abstract><p id="P1">A number of germ-line mutations in the <italic>BRCA1</italic>
gene confer susceptibility to breast and ovarian cancer. However, it remains difficult to determine whether many single amino-acid (missense) changes in the BRCA1 protein that are frequently detected in the clinical setting are pathologic or not. Here, we used a combination of functional, crystallographic, biophysical, molecular and evolutionary techniques, and classical genetic segregation analysis to demonstrate that the <italic>BRCA1</italic>
missense variant M1775K is pathogenic. Functional assays in yeast and mammalian cells showed that the BRCA1 BRCT domains carrying the amino-acid change M1775K displayed markedly reduced transcriptional activity, indicating that this variant represents a deleterious mutation. Importantly, the M1775K mutation disrupted the phosphopeptide-binding pocket of the BRCA1 BRCT domains, thereby inhibiting the BRCA1 interaction with the proteins BRIP1 and CtIP, which are involved in DNA damage-induced checkpoint control. These results indicate that the integrity of the BRCT phosphopeptide-binding pocket is critical for the tumor suppression function of BRCA1. Moreover, this study demonstrates that multiple lines of evidence obtained from a combination of functional, structural, molecular and evolutionary techniques, and classical genetic segregation analysis are required to confirm the pathogenicity of rare variants of disease-susceptibility genes and obtain important insights into the underlying pathogenetic mechanisms.</p>
</abstract>
<kwd-group><kwd>BRCA1</kwd>
<kwd>BRIP1</kwd>
<kwd>CtIP</kwd>
<kwd>hereditary breast cancer</kwd>
<kwd>missense variants</kwd>
</kwd-group>
<funding-group><award-group><funding-source country="United States">National Cancer Institute : NCI</funding-source>
<award-id>R01 CA116167-05 || CA</award-id>
</award-group>
<award-group><funding-source country="United States">National Institute on Aging : NIA</funding-source>
<award-id>R01 AG021964-01 || AG</award-id>
</award-group>
</funding-group>
</article-meta>
</front>
</pmc>
<affiliations><list><country><li>Australie</li>
<li>Brésil</li>
<li>Canada</li>
<li>France</li>
<li>Pays-Bas</li>
<li>États-Unis</li>
</country>
<region><li>Auvergne-Rhône-Alpes</li>
<li>Floride</li>
<li>Hollande-Septentrionale</li>
<li>Massachusetts</li>
<li>Québec</li>
<li>Rhône-Alpes</li>
<li>Utah</li>
<li>État de Rio de Janeiro</li>
</region>
<settlement><li>Amsterdam</li>
<li>Lyon</li>
<li>Montréal</li>
<li>Rio de Janeiro</li>
</settlement>
<orgName><li>Université McGill</li>
</orgName>
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<tree><country name="Canada"><region name="Québec"><name sortKey="Tischkowitz, Marc" sort="Tischkowitz, Marc" uniqKey="Tischkowitz M" first="Marc" last="Tischkowitz">Marc Tischkowitz</name>
</region>
<name sortKey="Foulkes, William D" sort="Foulkes, William D" uniqKey="Foulkes W" first="William D" last="Foulkes">William D. Foulkes</name>
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<name sortKey="Foulkes, William D" sort="Foulkes, William D" uniqKey="Foulkes W" first="William D" last="Foulkes">William D. Foulkes</name>
<name sortKey="Hamel, Nancy" sort="Hamel, Nancy" uniqKey="Hamel N" first="Nancy" last="Hamel">Nancy Hamel</name>
<name sortKey="Hamel, Nancy" sort="Hamel, Nancy" uniqKey="Hamel N" first="Nancy" last="Hamel">Nancy Hamel</name>
<name sortKey="Novak, David" sort="Novak, David" uniqKey="Novak D" first="David" last="Novak">David Novak</name>
<name sortKey="Novak, David" sort="Novak, David" uniqKey="Novak D" first="David" last="Novak">David Novak</name>
<name sortKey="Quenneville, Louise A" sort="Quenneville, Louise A" uniqKey="Quenneville L" first="Louise A" last="Quenneville">Louise A. Quenneville</name>
<name sortKey="Tischkowitz, Marc" sort="Tischkowitz, Marc" uniqKey="Tischkowitz M" first="Marc" last="Tischkowitz">Marc Tischkowitz</name>
<name sortKey="Wong, Nora" sort="Wong, Nora" uniqKey="Wong N" first="Nora" last="Wong">Nora Wong</name>
<name sortKey="Wong, Nora" sort="Wong, Nora" uniqKey="Wong N" first="Nora" last="Wong">Nora Wong</name>
</country>
<country name="États-Unis"><region name="Floride"><name sortKey="Carvalho, Marcelo A" sort="Carvalho, Marcelo A" uniqKey="Carvalho M" first="Marcelo A" last="Carvalho">Marcelo A. Carvalho</name>
</region>
<name sortKey="Birrane, Gabriel" sort="Birrane, Gabriel" uniqKey="Birrane G" first="Gabriel" last="Birrane">Gabriel Birrane</name>
<name sortKey="Goldgar, David E" sort="Goldgar, David E" uniqKey="Goldgar D" first="David E" last="Goldgar">David E. Goldgar</name>
<name sortKey="Ladias, John Aa" sort="Ladias, John Aa" uniqKey="Ladias J" first="John Aa" last="Ladias">John Aa Ladias</name>
<name sortKey="Monteiro, Alvaro N" sort="Monteiro, Alvaro N" uniqKey="Monteiro A" first="Alvaro N" last="Monteiro">Alvaro N. Monteiro</name>
<name sortKey="Soni, Aditi" sort="Soni, Aditi" uniqKey="Soni A" first="Aditi" last="Soni">Aditi Soni</name>
</country>
<country name="Brésil"><region name="État de Rio de Janeiro"><name sortKey="Carvalho, Marcelo A" sort="Carvalho, Marcelo A" uniqKey="Carvalho M" first="Marcelo A" last="Carvalho">Marcelo A. Carvalho</name>
</region>
</country>
<country name="Pays-Bas"><region name="Hollande-Septentrionale"><name sortKey="Van Beers, Erik H" sort="Van Beers, Erik H" uniqKey="Van Beers E" first="Erik H" last="Van Beers">Erik H. Van Beers</name>
</region>
<name sortKey="Joosse, Simon A" sort="Joosse, Simon A" uniqKey="Joosse S" first="Simon A" last="Joosse">Simon A. Joosse</name>
<name sortKey="Nederlof, Petra M" sort="Nederlof, Petra M" uniqKey="Nederlof P" first="Petra M" last="Nederlof">Petra M. Nederlof</name>
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<country name="Australie"><noRegion><name sortKey="Grist, Scott A" sort="Grist, Scott A" uniqKey="Grist S" first="Scott A" last="Grist">Scott A. Grist</name>
</noRegion>
</country>
<country name="France"><region name="Auvergne-Rhône-Alpes"><name sortKey="Tavtigian, Sean V" sort="Tavtigian, Sean V" uniqKey="Tavtigian S" first="Sean V" last="Tavtigian">Sean V. Tavtigian</name>
</region>
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</tree>
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</record>
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