AustralieFrV1, Main, Exploration, bibRecord, 006200

Common variants of the BRCA1 wild-type allele modify the risk of breast cancer in BRCA1 mutation carriers

Identifieur interne : 006200 ( Main/Exploration ); précédent : 006199; suivant : 006201

Common variants of the BRCA1 wild-type allele modify the risk of breast cancer in BRCA1 mutation carriers

Auteurs : David G. Cox [France, Royaume-Uni] ; Jacques Simard [Canada] ; Daniel Sinnett [Canada] ; Yosr Hamdi [Canada] ; Penny Soucy [Canada] ; Manon Ouimet [Canada] ; Laure Barjhoux [France] ; Carole Verny-Pierre [France] ; Lesley Mcguffog [Royaume-Uni] ; Sue Healey [Australie] ; Csilla Szabo [États-Unis] ; Mark H. Greene [États-Unis] ; Phuong L. Mai [États-Unis] ; Irene L. Andrulis [Canada]

Source :

Human Molecular Genetics [ 0964-6906 ] ; 2011.

RBID : PMC:3733139

Abstract

Mutations in the BRCA1 gene substantially increase a woman's lifetime risk of breast cancer. However, there is great variation in this increase in risk with several genetic and non-genetic modifiers identified. The BRCA1 protein plays a central role in DNA repair, a mechanism that is particularly instrumental in safeguarding cells against tumorigenesis. We hypothesized that polymorphisms that alter the expression and/or function of BRCA1 carried on the wild-type (non-mutated) copy of the BRCA1 gene would modify the risk of breast cancer in carriers of BRCA1 mutations. A total of 9874 BRCA1 mutation carriers were available in the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA) for haplotype analyses of BRCA1. Women carrying the rare allele of single nucleotide polymorphism rs16942 on the wild-type copy of BRCA1 were at decreased risk of breast cancer (hazard ratio 0.86, 95% confidence interval 0.77–0.95, P = 0.003). Promoter in vitro assays of the major BRCA1 haplotypes showed that common polymorphisms in the regulatory region alter its activity and that this effect may be attributed to the differential binding affinity of nuclear proteins. In conclusion, variants on the wild-type copy of BRCA1 modify risk of breast cancer among carriers of BRCA1 mutations, possibly by altering the efficiency of BRCA1 transcription.

Url:

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3733139

DOI: 10.1093/hmg/ddr388
PubMed: 21890493
PubMed Central: 3733139

Affiliations:

Australie, Canada, France, Royaume-Uni, États-Unis

Le document en format XML

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<affiliation wicri:level="1"><nlm:aff id="af2"><addr-line>Department of Epidemiology and Biostatistics, School of Public Health</addr-line>
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<author><name sortKey="Sinnett, Daniel" sort="Sinnett, Daniel" uniqKey="Sinnett D" first="Daniel" last="Sinnett">Daniel Sinnett</name>
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<author><name sortKey="Hamdi, Yosr" sort="Hamdi, Yosr" uniqKey="Hamdi Y" first="Yosr" last="Hamdi">Yosr Hamdi</name>
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<author><name sortKey="Soucy, Penny" sort="Soucy, Penny" uniqKey="Soucy P" first="Penny" last="Soucy">Penny Soucy</name>
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<author><name sortKey="Ouimet, Manon" sort="Ouimet, Manon" uniqKey="Ouimet M" first="Manon" last="Ouimet">Manon Ouimet</name>
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<author><name sortKey="Barjhoux, Laure" sort="Barjhoux, Laure" uniqKey="Barjhoux L" first="Laure" last="Barjhoux">Laure Barjhoux</name>
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,</nlm:aff>
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<author><name sortKey="Verny Pierre, Carole" sort="Verny Pierre, Carole" uniqKey="Verny Pierre C" first="Carole" last="Verny-Pierre">Carole Verny-Pierre</name>
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<author><name sortKey="Mcguffog, Lesley" sort="Mcguffog, Lesley" uniqKey="Mcguffog L" first="Lesley" last="Mcguffog">Lesley Mcguffog</name>
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Common variants of the <italic>BRCA1</italic>
 wild-type allele modify the risk of breast cancer in <italic>BRCA1</italic>
 mutation carriers</title>
<author><name sortKey="Cox, David G" sort="Cox, David G" uniqKey="Cox D" first="David G." last="Cox">David G. Cox</name>
<affiliation wicri:level="1"><nlm:aff id="af1"><addr-line>INSERM U1052, CNRS UMR5286</addr-line>
,<institution>Université Lyon 1, Cancer Research Center of Lyon</institution>
,<addr-line>Lyon</addr-line>
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,</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="af2"><addr-line>Department of Epidemiology and Biostatistics, School of Public Health</addr-line>
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,<addr-line>London</addr-line>
,<country>UK</country>
,</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
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<author><name sortKey="Simard, Jacques" sort="Simard, Jacques" uniqKey="Simard J" first="Jacques" last="Simard">Jacques Simard</name>
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,<institution>Centre Hospitalier Universitaire de Québec and Laval University</institution>
,<addr-line>Quebec City, QC</addr-line>
,<country>Canada</country>
,</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
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<author><name sortKey="Sinnett, Daniel" sort="Sinnett, Daniel" uniqKey="Sinnett D" first="Daniel" last="Sinnett">Daniel Sinnett</name>
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,<addr-line>Montreal, QC</addr-line>
,<country>Canada</country>
,</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="af5"><addr-line>Department of Pediatrics, Faculty of Medicine</addr-line>
,<institution>University of Montreal</institution>
,<addr-line>Montreal, QC</addr-line>
,<country>Canada</country>
,</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Hamdi, Yosr" sort="Hamdi, Yosr" uniqKey="Hamdi Y" first="Yosr" last="Hamdi">Yosr Hamdi</name>
<affiliation wicri:level="1"><nlm:aff id="af3"><addr-line>Cancer Genomics Laboratory</addr-line>
,<institution>Centre Hospitalier Universitaire de Québec and Laval University</institution>
,<addr-line>Quebec City, QC</addr-line>
,<country>Canada</country>
,</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Soucy, Penny" sort="Soucy, Penny" uniqKey="Soucy P" first="Penny" last="Soucy">Penny Soucy</name>
<affiliation wicri:level="1"><nlm:aff id="af3"><addr-line>Cancer Genomics Laboratory</addr-line>
,<institution>Centre Hospitalier Universitaire de Québec and Laval University</institution>
,<addr-line>Quebec City, QC</addr-line>
,<country>Canada</country>
,</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Ouimet, Manon" sort="Ouimet, Manon" uniqKey="Ouimet M" first="Manon" last="Ouimet">Manon Ouimet</name>
<affiliation wicri:level="1"><nlm:aff id="af4"><addr-line>Division of Hematology-Oncology, Research Center</addr-line>
,<institution>Sainte-Justine University Health Center</institution>
,<addr-line>Montreal, QC</addr-line>
,<country>Canada</country>
,</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Barjhoux, Laure" sort="Barjhoux, Laure" uniqKey="Barjhoux L" first="Laure" last="Barjhoux">Laure Barjhoux</name>
<affiliation wicri:level="1"><nlm:aff id="af1"><addr-line>INSERM U1052, CNRS UMR5286</addr-line>
,<institution>Université Lyon 1, Cancer Research Center of Lyon</institution>
,<addr-line>Lyon</addr-line>
,<country>France</country>
,</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Verny Pierre, Carole" sort="Verny Pierre, Carole" uniqKey="Verny Pierre C" first="Carole" last="Verny-Pierre">Carole Verny-Pierre</name>
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,<institution>Université Lyon 1, Cancer Research Center of Lyon</institution>
,<addr-line>Lyon</addr-line>
,<country>France</country>
,</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
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</author>
<author><name sortKey="Mcguffog, Lesley" sort="Mcguffog, Lesley" uniqKey="Mcguffog L" first="Lesley" last="Mcguffog">Lesley Mcguffog</name>
<affiliation wicri:level="1"><nlm:aff id="af6"><addr-line>Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care</addr-line>
,<institution>University of Cambridge</institution>
,<country>UK</country>
,</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Healey, Sue" sort="Healey, Sue" uniqKey="Healey S" first="Sue" last="Healey">Sue Healey</name>
<affiliation wicri:level="1"><nlm:aff id="af7"><addr-line>Genetics and Population Health</addr-line>
,<institution>Queensland Institute of Medical Research</institution>
,<addr-line>Brisbane</addr-line>
,<country>Australia</country>
,</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Szabo, Csilla" sort="Szabo, Csilla" uniqKey="Szabo C" first="Csilla" last="Szabo">Csilla Szabo</name>
<affiliation wicri:level="1"><nlm:aff id="af8"><institution>University of Delaware</institution>
,<addr-line>Newark, DE</addr-line>
,<country>USA</country>
,</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Greene, Mark H" sort="Greene, Mark H" uniqKey="Greene M" first="Mark H." last="Greene">Mark H. Greene</name>
<affiliation wicri:level="1"><nlm:aff id="af9"><addr-line>Clinical Genetics Branch</addr-line>
,<institution>US National Cancer Institute</institution>
,<addr-line>Rockville, MD</addr-line>
,<country>USA</country>
,</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Mai, Phuong L" sort="Mai, Phuong L" uniqKey="Mai P" first="Phuong L." last="Mai">Phuong L. Mai</name>
<affiliation wicri:level="1"><nlm:aff id="af9"><addr-line>Clinical Genetics Branch</addr-line>
,<institution>US National Cancer Institute</institution>
,<addr-line>Rockville, MD</addr-line>
,<country>USA</country>
,</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Andrulis, Irene L" sort="Andrulis, Irene L" uniqKey="Andrulis I" first="Irene L." last="Andrulis">Irene L. Andrulis</name>
<affiliation><nlm:aff wicri:cut=" and" id="af10"><addr-line>Department of Molecular Genetics and Laboratory Medicine and Pathobiology</addr-line>
,<institution>University of Toronto</institution>
</nlm:aff>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="af11"><addr-line>Fred A. Litwin Center for Cancer Genetics</addr-line>
,<institution>Samuel Lunenfeld Research Institute, Mount Sinai Hospital</institution>
,<addr-line>Toronto, ON</addr-line>
,<country>Canada</country>
,</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
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<series><title level="j">Human Molecular Genetics</title>
<idno type="ISSN">0964-6906</idno>
<idno type="eISSN">1460-2083</idno>
<imprint><date when="2011">2011</date>
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<front><div type="abstract" xml:lang="en"><p>Mutations in the <italic>BRCA1</italic>
 gene substantially increase a woman's lifetime risk of breast cancer. However, there is great variation in this increase in risk with several genetic and non-genetic modifiers identified. The BRCA1 protein plays a central role in DNA repair, a mechanism that is particularly instrumental in safeguarding cells against tumorigenesis. We hypothesized that polymorphisms that alter the expression and/or function of <italic>BRCA1</italic>
 carried on the wild-type (non-mutated) copy of the <italic>BRCA1</italic>
 gene would modify the risk of breast cancer in carriers of <italic>BRCA1</italic>
 mutations. A total of 9874 <italic>BRCA1</italic>
 mutation carriers were available in the Consortium of Investigators of Modifiers of <italic>BRCA1/2</italic>
 (CIMBA) for haplotype analyses of <italic>BRCA1</italic>
. Women carrying the rare allele of single nucleotide polymorphism rs16942 on the wild-type copy of <italic>BRCA1</italic>
 were at decreased risk of breast cancer (hazard ratio 0.86, 95% confidence interval 0.77–0.95, <italic>P</italic>
 = 0.003). Promoter <italic>in vitro</italic>
 assays of the major <italic>BRCA1</italic>
 haplotypes showed that common polymorphisms in the regulatory region alter its activity and that this effect may be attributed to the differential binding affinity of nuclear proteins. In conclusion, variants on the wild-type copy of <italic>BRCA1</italic>
 modify risk of breast cancer among carriers of <italic>BRCA1</italic>
 mutations, possibly by altering the efficiency of <italic>BRCA1</italic>
 transcription.</p>
</div>
</front>
</TEI>
<affiliations><list><country><li>Australie</li>
<li>Canada</li>
<li>France</li>
<li>Royaume-Uni</li>
<li>États-Unis</li>
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<tree><country name="France"><noRegion><name sortKey="Cox, David G" sort="Cox, David G" uniqKey="Cox D" first="David G." last="Cox">David G. Cox</name>
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<country name="Royaume-Uni"><noRegion><name sortKey="Cox, David G" sort="Cox, David G" uniqKey="Cox D" first="David G." last="Cox">David G. Cox</name>
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<country name="Canada"><noRegion><name sortKey="Simard, Jacques" sort="Simard, Jacques" uniqKey="Simard J" first="Jacques" last="Simard">Jacques Simard</name>
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<name sortKey="Ouimet, Manon" sort="Ouimet, Manon" uniqKey="Ouimet M" first="Manon" last="Ouimet">Manon Ouimet</name>
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<name sortKey="Sinnett, Daniel" sort="Sinnett, Daniel" uniqKey="Sinnett D" first="Daniel" last="Sinnett">Daniel Sinnett</name>
<name sortKey="Soucy, Penny" sort="Soucy, Penny" uniqKey="Soucy P" first="Penny" last="Soucy">Penny Soucy</name>
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<country name="Australie"><noRegion><name sortKey="Healey, Sue" sort="Healey, Sue" uniqKey="Healey S" first="Sue" last="Healey">Sue Healey</name>
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<country name="États-Unis"><noRegion><name sortKey="Szabo, Csilla" sort="Szabo, Csilla" uniqKey="Szabo C" first="Csilla" last="Szabo">Csilla Szabo</name>
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<name sortKey="Mai, Phuong L" sort="Mai, Phuong L" uniqKey="Mai P" first="Phuong L." last="Mai">Phuong L. Mai</name>
</country>
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</record>

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{{Explor lien
   |wiki=    Wicri/Asie
   |area=    AustralieFrV1
   |flux=    Main
   |étape=   Exploration
   |type=    RBID
   |clé=     PMC:3733139
   |texte=   Common variants of the BRCA1 wild-type allele modify the risk of breast cancer in BRCA1 mutation carriers
}}

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Serveur d'exploration sur les relations entre la France et l'Australie

Common variants of the BRCA1 wild-type allele modify the risk of breast cancer in BRCA1 mutation carriers

Common variants of the BRCA1 wild-type allele modify the risk of breast cancer in BRCA1 mutation carriers

Source :

Abstract

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	Serveur d'exploration sur les relations entre la France et l'Australie
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