AustralieFrV1, Main, Exploration, bibRecord, 005390

Evaluation of chromosome 6p22 as a breast cancer risk modifier locus in a follow-up study of BRCA2 mutation carriers

Identifieur interne : 005390 ( Main/Exploration ); précédent : 005389; suivant : 005391

Evaluation of chromosome 6p22 as a breast cancer risk modifier locus in a follow-up study of BRCA2 mutation carriers

Auteurs : Kristen N. Stevens [États-Unis] ; Xianshu Wang [États-Unis] ; Zachary Fredericksen [États-Unis] ; Vernon S. Pankratz [États-Unis] ; Mark H. Greene [États-Unis] ; Irene L. Andrulis [Canada, États-Unis] ; Mads Thomassen [Danemark] ; Maria Caligo [Italie] ; Katherine L. Nathanson [États-Unis] ; Anna Jakubowska [Pologne] ; Ana Osorio ; Ute Hamann [Allemagne] ; Andrew K. Godwin [États-Unis] ; Dominique Stoppa-Lyonnet [France] ; Melissa Southey [Australie] ; Saundra S. Buys [États-Unis] ; Christian F. Singer [Autriche] ; Thomas V. O. Hansen [Danemark] ; Adalgeir Arason [Islande] ; Kenneth Offit [États-Unis] ; Marion Piedmonte [États-Unis] ; Marco Montagna [Italie] ; Evgeny Imyanitov [Russie] ; Laima Tihomirova [Lettonie] ; Lara Sucheston [États-Unis] ; Mary Beattie [États-Unis] ; Susan L. Neuhausen [États-Unis] ; Csilla I. Szabo [États-Unis] ; Jacques Simard ; Amanda B. Spurdle [Australie] ; Sue Healey [Australie] ; Xiaoqing Chen [Australie] ; Timothy R. Rebbeck [Royaume-Uni] ; Douglas F. Easton [Royaume-Uni] ; Georgia Chenevix-Trench [Australie] ; Antonis C. Antoniou [Royaume-Uni] ; Fergus J. Couch [États-Unis]

Source :

Breast cancer research and treatment [ 0167-6806 ] ; 2012.

RBID : PMC:3482828

Abstract

Several common germline variants identified through genome-wide association studies of breast cancer risk in the general population have recently been shown to be associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers. When combined, these variants can identify marked differences in the absolute risk of developing breast cancer for mutation carriers, suggesting that additional modifier loci may further enhance individual risk assessment for BRCA1 and BRCA2 mutation carriers. Recently, a common variant on 6p22 (rs9393597) was found to be associated with increased breast cancer risk for BRCA2 mutation carriers [Hazard ratio (HR)=1.55, 95% CI 1.25–1.92, p=6.0×10⁻⁵]. This observation was based on data from GWAS studies in which, despite statistical correction for multiple comparisons, the possibility of false discovery remains a concern. Here we report on an analysis of this variant in an additional 6,165 BRCA1 and 3,900 BRCA2 mutation carriers from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). In this replication analysis, rs9393597 was not associated with breast cancer risk for BRCA2 mutation carriers [HR=1.09, 95% CI 0.96–1.24, p=0.18]. No association with ovarian cancer risk for BRCA1 or BRCA2 mutation carriers or with breast cancer risk for BRCA1 mutation carriers was observed. This follow-up study suggests that, contrary to our initial report, this variant is not associated with breast cancer risk among individuals with germline BRCA2 mutations.

Url:

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3482828

DOI: 10.1007/s10549-012-2255-6
PubMed: 23011509
PubMed Central: 3482828

Affiliations:

Le document en format XML

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<author><name sortKey="Imyanitov, Evgeny" sort="Imyanitov, Evgeny" uniqKey="Imyanitov E" first="Evgeny" last="Imyanitov">Evgeny Imyanitov</name>
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<author><name sortKey="Beattie, Mary" sort="Beattie, Mary" uniqKey="Beattie M" first="Mary" last="Beattie">Mary Beattie</name>
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<author><name sortKey="Neuhausen, Susan L" sort="Neuhausen, Susan L" uniqKey="Neuhausen S" first="Susan L." last="Neuhausen">Susan L. Neuhausen</name>
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<author><name sortKey="Szabo, Csilla I" sort="Szabo, Csilla I" uniqKey="Szabo C" first="Csilla I." last="Szabo">Csilla I. Szabo</name>
<affiliation wicri:level="2"><nlm:aff id="A36">Department of Biological Sciences, University of Delaware, Newark, Delaware, USA</nlm:aff>
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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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<author><name sortKey="Spurdle, Amanda B" sort="Spurdle, Amanda B" uniqKey="Spurdle A" first="Amanda B." last="Spurdle">Amanda B. Spurdle</name>
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<affiliation wicri:level="3"><nlm:aff id="A37">Kathleen Cuningham Consortium for Research into Familial Breast Cancer—Peter MacCallum Cancer Center, Melbourne, Australia</nlm:aff>
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<wicri:regionArea>Kathleen Cuningham Consortium for Research into Familial Breast Cancer—Peter MacCallum Cancer Center, Melbourne</wicri:regionArea>
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<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="A39">Queensland Institute of Medical Research, Brisbane, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Queensland Institute of Medical Research, Brisbane</wicri:regionArea>
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<author><name sortKey="Chen, Xiaoqing" sort="Chen, Xiaoqing" uniqKey="Chen X" first="Xiaoqing" last="Chen">Xiaoqing Chen</name>
<affiliation wicri:level="1"><nlm:aff id="A39">Queensland Institute of Medical Research, Brisbane, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Queensland Institute of Medical Research, Brisbane</wicri:regionArea>
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<author><name sortKey="Rebbeck, Timothy R" sort="Rebbeck, Timothy R" uniqKey="Rebbeck T" first="Timothy R." last="Rebbeck">Timothy R. Rebbeck</name>
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<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Northern Ireland Regional Genetics Center, Belfast City Hospital, Belfast</wicri:regionArea>
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<author><name sortKey="Easton, Douglas F" sort="Easton, Douglas F" uniqKey="Easton D" first="Douglas F." last="Easton">Douglas F. Easton</name>
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</placeName>
</affiliation>
</author>
<author><name sortKey="Chenevix Trench, Georgia" sort="Chenevix Trench, Georgia" uniqKey="Chenevix Trench G" first="Georgia" last="Chenevix-Trench">Georgia Chenevix-Trench</name>
<affiliation wicri:level="1"><nlm:aff id="A39">Queensland Institute of Medical Research, Brisbane, Australia</nlm:aff>
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<author><name sortKey="Antoniou, Antonis C" sort="Antoniou, Antonis C" uniqKey="Antoniou A" first="Antonis C" last="Antoniou">Antonis C. Antoniou</name>
<affiliation wicri:level="4"><nlm:aff id="A41">Center for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Center for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge</wicri:regionArea>
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</placeName>
</affiliation>
</author>
<author><name sortKey="Couch, Fergus J" sort="Couch, Fergus J" uniqKey="Couch F" first="Fergus J." last="Couch">Fergus J. Couch</name>
<affiliation wicri:level="2"><nlm:aff id="A2">Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota</wicri:regionArea>
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 mutation carriers</title>
<author><name sortKey="Stevens, Kristen N" sort="Stevens, Kristen N" uniqKey="Stevens K" first="Kristen N." last="Stevens">Kristen N. Stevens</name>
<affiliation wicri:level="2"><nlm:aff id="A1">Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota</wicri:regionArea>
<placeName><region type="state">Minnesota</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Wang, Xianshu" sort="Wang, Xianshu" uniqKey="Wang X" first="Xianshu" last="Wang">Xianshu Wang</name>
<affiliation wicri:level="2"><nlm:aff id="A2">Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota</wicri:regionArea>
<placeName><region type="state">Minnesota</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Fredericksen, Zachary" sort="Fredericksen, Zachary" uniqKey="Fredericksen Z" first="Zachary" last="Fredericksen">Zachary Fredericksen</name>
<affiliation wicri:level="2"><nlm:aff id="A1">Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota</wicri:regionArea>
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</affiliation>
</author>
<author><name sortKey="Pankratz, Vernon S" sort="Pankratz, Vernon S" uniqKey="Pankratz V" first="Vernon S." last="Pankratz">Vernon S. Pankratz</name>
<affiliation wicri:level="2"><nlm:aff id="A1">Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota</wicri:regionArea>
<placeName><region type="state">Minnesota</region>
</placeName>
</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="2"><nlm:aff id="A3">Clinical Genetics Branch, US National Cancer Institute, Rockville, Maryland, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Clinical Genetics Branch, US National Cancer Institute, Rockville, Maryland</wicri:regionArea>
<placeName><region type="state">Maryland</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Andrulis, Irene L" sort="Andrulis, Irene L" uniqKey="Andrulis I" first="Irene L." last="Andrulis">Irene L. Andrulis</name>
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<country xml:lang="fr">Canada</country>
<wicri:regionArea>Ontario Cancer Genetics Network (OCGN), Cancer Care Ontario, Toronto, Ontario</wicri:regionArea>
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<affiliation wicri:level="2"><nlm:aff id="A5">Fred A. Litwin Center for Cancer Genetics, Samuel Lunenfeld Research Institute, Mount Sinai Hospital, New York, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Fred A. Litwin Center for Cancer Genetics, Samuel Lunenfeld Research Institute, Mount Sinai Hospital, New York</wicri:regionArea>
<placeName><region type="state">État de New York</region>
</placeName>
</affiliation>
<affiliation wicri:level="4"><nlm:aff id="A6">Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario</wicri:regionArea>
<orgName type="university">Université de Toronto</orgName>
<placeName><settlement type="city">Toronto</settlement>
<region type="state">Ontario</region>
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</affiliation>
<affiliation wicri:level="4"><nlm:aff id="A7">Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Department of Molecular Genetics, University of Toronto, Toronto, Ontario</wicri:regionArea>
<orgName type="university">Université de Toronto</orgName>
<placeName><settlement type="city">Toronto</settlement>
<region type="state">Ontario</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Thomassen, Mads" sort="Thomassen, Mads" uniqKey="Thomassen M" first="Mads" last="Thomassen">Mads Thomassen</name>
<affiliation wicri:level="1"><nlm:aff id="A8">Odense University Hospital, Department of Clinical Genetics, Odense, Denmark</nlm:aff>
<country xml:lang="fr">Danemark</country>
<wicri:regionArea>Odense University Hospital, Department of Clinical Genetics, Odense</wicri:regionArea>
<wicri:noRegion>Odense</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Caligo, Maria" sort="Caligo, Maria" uniqKey="Caligo M" first="Maria" last="Caligo">Maria Caligo</name>
<affiliation wicri:level="3"><nlm:aff id="A9">Division of Surgical, Molecular and Ultrastructural Pathology, Department of Oncology, University of Pisa and Pisa University Hospital, Pisa, Italy</nlm:aff>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Division of Surgical, Molecular and Ultrastructural Pathology, Department of Oncology, University of Pisa and Pisa University Hospital, Pisa</wicri:regionArea>
<placeName><settlement type="city">Pise</settlement>
<region nuts="2">Toscane</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Nathanson, Katherine L" sort="Nathanson, Katherine L" uniqKey="Nathanson K" first="Katherine L." last="Nathanson">Katherine L. Nathanson</name>
<affiliation wicri:level="2"><nlm:aff id="A12">Abramson Cancer Center and Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Abramson Cancer Center and Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania</wicri:regionArea>
<placeName><region type="state">Pennsylvanie</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Jakubowska, Anna" sort="Jakubowska, Anna" uniqKey="Jakubowska A" first="Anna" last="Jakubowska">Anna Jakubowska</name>
<affiliation wicri:level="1"><nlm:aff id="A13">International Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland</nlm:aff>
<country xml:lang="fr">Pologne</country>
<wicri:regionArea>International Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Medical University, Szczecin</wicri:regionArea>
<wicri:noRegion>Szczecin</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Osorio, Ana" sort="Osorio, Ana" uniqKey="Osorio A" first="Ana" last="Osorio">Ana Osorio</name>
<affiliation><nlm:aff id="A14">Human Genetics Group, Human Cancer Genetics Programme, Spanish National Cancer Research Centre, Madrid, Spain and Spanish Network on Rare Diseases (CIBERER)</nlm:aff>
<wicri:noCountry code="subfield">Spain and Spanish Network on Rare Diseases (CIBERER)</wicri:noCountry>
</affiliation>
</author>
<author><name sortKey="Hamann, Ute" sort="Hamann, Ute" uniqKey="Hamann U" first="Ute" last="Hamann">Ute Hamann</name>
<affiliation wicri:level="3"><nlm:aff id="A15">Molecular Genetics of Breast Cancer, Deutsches Krebsforschungszentrum (DKFZ), Heidelberg, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Molecular Genetics of Breast Cancer, Deutsches Krebsforschungszentrum (DKFZ), Heidelberg</wicri:regionArea>
<placeName><region type="land" nuts="1">Bade-Wurtemberg</region>
<region type="district" nuts="2">District de Karlsruhe</region>
<settlement type="city">Heidelberg</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Godwin, Andrew K" sort="Godwin, Andrew K" uniqKey="Godwin A" first="Andrew K." last="Godwin">Andrew K. Godwin</name>
<affiliation wicri:level="2"><nlm:aff id="A16">Women's Cancer Program, Department of Medical Oncology, Fox Chase Cancer Center, Philadelphia, Pennsylvania</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Pennsylvanie</region>
</placeName>
<wicri:cityArea>Women's Cancer Program, Department of Medical Oncology, Fox Chase Cancer Center, Philadelphia</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Stoppa Lyonnet, Dominique" sort="Stoppa Lyonnet, Dominique" uniqKey="Stoppa Lyonnet D" first="Dominique" last="Stoppa-Lyonnet">Dominique Stoppa-Lyonnet</name>
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<country xml:lang="fr">France</country>
<wicri:regionArea>INSERM U509, Service de Génétique Oncologique, Institut Curie, Université Paris-Descartes, Paris</wicri:regionArea>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
<settlement type="city">Paris</settlement>
</placeName>
<orgName type="university">Université Paris-Descartes</orgName>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="A18">GEMO study: Cancer Genetics Network “Groupe Génétique et Cancer”, Fédération Nationale des Centres de Lutte Contre le Cancer, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>GEMO study: Cancer Genetics Network “Groupe Génétique et Cancer”, Fédération Nationale des Centres de Lutte Contre le Cancer</wicri:regionArea>
<wicri:noRegion>Fédération Nationale des Centres de Lutte Contre le Cancer</wicri:noRegion>
<wicri:noRegion>Fédération Nationale des Centres de Lutte Contre le Cancer</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Southey, Melissa" sort="Southey, Melissa" uniqKey="Southey M" first="Melissa" last="Southey">Melissa Southey</name>
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<country xml:lang="fr">Australie</country>
<wicri:regionArea>Genetic Epidemiology Laboratory, Department of Pathology, University of Melbourne</wicri:regionArea>
<placeName><settlement type="city">Melbourne</settlement>
<region type="état">Victoria (État)</region>
</placeName>
<orgName type="university">Université de Melbourne</orgName>
</affiliation>
</author>
<author><name sortKey="Buys, Saundra S" sort="Buys, Saundra S" uniqKey="Buys S" first="Saundra S." last="Buys">Saundra S. Buys</name>
<affiliation wicri:level="2"><nlm:aff id="A20">Department of Oncological Sciences, Huntsman Cancer Institute, University of Utah, Salt Lake City, Utah, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Oncological Sciences, Huntsman Cancer Institute, University of Utah, Salt Lake City, Utah</wicri:regionArea>
<placeName><region type="state">Utah</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Singer, Christian F" sort="Singer, Christian F" uniqKey="Singer C" first="Christian F." last="Singer">Christian F. Singer</name>
<affiliation wicri:level="3"><nlm:aff id="A21">Department of Obstetrics and Gynecology and Comprehensive Cancer Center MUW, Medical University of Vienna, Vienna, Austria</nlm:aff>
<country xml:lang="fr">Autriche</country>
<wicri:regionArea>Department of Obstetrics and Gynecology and Comprehensive Cancer Center MUW, Medical University of Vienna, Vienna</wicri:regionArea>
<placeName><settlement type="city">Vienne (Autriche)</settlement>
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</placeName>
</affiliation>
</author>
<author><name sortKey="Hansen, Thomas V O" sort="Hansen, Thomas V O" uniqKey="Hansen T" first="Thomas V. O." last="Hansen">Thomas V. O. Hansen</name>
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<country xml:lang="fr">Danemark</country>
<wicri:regionArea>Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital, Copenhagen</wicri:regionArea>
<placeName><settlement type="city">Copenhague</settlement>
<region type="région" nuts="2">Hovedstaden</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Arason, Adalgeir" sort="Arason, Adalgeir" uniqKey="Arason A" first="Adalgeir" last="Arason">Adalgeir Arason</name>
<affiliation wicri:level="1"><nlm:aff id="A23">Department of Pathology, Landspitali-LSH, Reykjavik, Iceland</nlm:aff>
<country xml:lang="fr">Islande</country>
<wicri:regionArea>Department of Pathology, Landspitali-LSH, Reykjavik</wicri:regionArea>
<wicri:noRegion>Reykjavik</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="A24">Faculty of Medicine, University of Iceland, Reykjavik, Iceland</nlm:aff>
<country xml:lang="fr">Islande</country>
<wicri:regionArea>Faculty of Medicine, University of Iceland, Reykjavik</wicri:regionArea>
<wicri:noRegion>Reykjavik</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Offit, Kenneth" sort="Offit, Kenneth" uniqKey="Offit K" first="Kenneth" last="Offit">Kenneth Offit</name>
<affiliation wicri:level="2"><nlm:aff id="A25">Clinical Genetics Service, Department of Medicine, Memorial Sloan-Kettering Cancer Center, New York, New York, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Clinical Genetics Service, Department of Medicine, Memorial Sloan-Kettering Cancer Center, New York, New York</wicri:regionArea>
<placeName><region type="state">État de New York</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Piedmonte, Marion" sort="Piedmonte, Marion" uniqKey="Piedmonte M" first="Marion" last="Piedmonte">Marion Piedmonte</name>
<affiliation wicri:level="2"><nlm:aff id="A26">GOG Statistical and Data Center, Roswell Park Cancer Institute, Buffalo, New York, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>GOG Statistical and Data Center, Roswell Park Cancer Institute, Buffalo, New York</wicri:regionArea>
<placeName><region type="state">État de New York</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Montagna, Marco" sort="Montagna, Marco" uniqKey="Montagna M" first="Marco" last="Montagna">Marco Montagna</name>
<affiliation wicri:level="1"><nlm:aff id="A27">Immunology and Molecular Oncology Unit, Istituto Oncologico Veneto IOV - IRCCS, Padua, Italy</nlm:aff>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Immunology and Molecular Oncology Unit, Istituto Oncologico Veneto IOV - IRCCS, Padua</wicri:regionArea>
<wicri:noRegion>Padua</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Imyanitov, Evgeny" sort="Imyanitov, Evgeny" uniqKey="Imyanitov E" first="Evgeny" last="Imyanitov">Evgeny Imyanitov</name>
<affiliation wicri:level="1"><nlm:aff id="A28">Laboratory of Molecular Oncology, N.N. Petrov Institute of Oncology, St.-Petersburg, Russia</nlm:aff>
<country xml:lang="fr">Russie</country>
<wicri:regionArea>Laboratory of Molecular Oncology, N.N. Petrov Institute of Oncology, St.-Petersburg</wicri:regionArea>
<wicri:noRegion>St.-Petersburg</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Tihomirova, Laima" sort="Tihomirova, Laima" uniqKey="Tihomirova L" first="Laima" last="Tihomirova">Laima Tihomirova</name>
<affiliation wicri:level="1"><nlm:aff id="A29">Latvian Biomedical Research and Study Centre, Riga, Latvia</nlm:aff>
<country xml:lang="fr">Lettonie</country>
<wicri:regionArea>Latvian Biomedical Research and Study Centre, Riga</wicri:regionArea>
<wicri:noRegion>Riga</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Sucheston, Lara" sort="Sucheston, Lara" uniqKey="Sucheston L" first="Lara" last="Sucheston">Lara Sucheston</name>
<affiliation wicri:level="2"><nlm:aff id="A30">Department of Cancer Prevention and Control, Roswell Park Cancer Institute, Buffalo, New York, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Cancer Prevention and Control, Roswell Park Cancer Institute, Buffalo, New York</wicri:regionArea>
<placeName><region type="state">État de New York</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Beattie, Mary" sort="Beattie, Mary" uniqKey="Beattie M" first="Mary" last="Beattie">Mary Beattie</name>
<affiliation wicri:level="2"><nlm:aff id="A31">Department of Medicine, University of California at San Francisco, San Francisco, California, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Medicine, University of California at San Francisco, San Francisco, California</wicri:regionArea>
<placeName><region type="state">Californie</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Neuhausen, Susan L" sort="Neuhausen, Susan L" uniqKey="Neuhausen S" first="Susan L." last="Neuhausen">Susan L. Neuhausen</name>
<affiliation wicri:level="2"><nlm:aff id="A34">Department of Population Sciences, Beckman Research Institute of the City of Hope, Duarte, California, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Population Sciences, Beckman Research Institute of the City of Hope, Duarte, California</wicri:regionArea>
<placeName><region type="state">Californie</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Szabo, Csilla I" sort="Szabo, Csilla I" uniqKey="Szabo C" first="Csilla I." last="Szabo">Csilla I. Szabo</name>
<affiliation wicri:level="2"><nlm:aff id="A36">Department of Biological Sciences, University of Delaware, Newark, Delaware, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Biological Sciences, University of Delaware, Newark, Delaware</wicri:regionArea>
<placeName><region type="state">Delaware</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Simard, Jacques" sort="Simard, Jacques" uniqKey="Simard J" first="Jacques" last="Simard">Jacques Simard</name>
<affiliation><nlm:aff id="A38">Canada Research Chair in Oncogenetics, Cancer Genomics Laboratory, Centre Hospitalier Universitaire de Québec and Laval University</nlm:aff>
<wicri:noCountry code="subfield">Centre Hospitalier Universitaire de Québec and Laval University</wicri:noCountry>
</affiliation>
</author>
<author><name sortKey="Spurdle, Amanda B" sort="Spurdle, Amanda B" uniqKey="Spurdle A" first="Amanda B." last="Spurdle">Amanda B. Spurdle</name>
<affiliation wicri:level="1"><nlm:aff id="A39">Queensland Institute of Medical Research, Brisbane, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Queensland Institute of Medical Research, Brisbane</wicri:regionArea>
<wicri:noRegion>Brisbane</wicri:noRegion>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="A37">Kathleen Cuningham Consortium for Research into Familial Breast Cancer—Peter MacCallum Cancer Center, Melbourne, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Kathleen Cuningham Consortium for Research into Familial Breast Cancer—Peter MacCallum Cancer Center, Melbourne</wicri:regionArea>
<placeName><settlement type="city">Melbourne</settlement>
<region type="état">Victoria (État)</region>
</placeName>
</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="A39">Queensland Institute of Medical Research, Brisbane, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Queensland Institute of Medical Research, Brisbane</wicri:regionArea>
<wicri:noRegion>Brisbane</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Chen, Xiaoqing" sort="Chen, Xiaoqing" uniqKey="Chen X" first="Xiaoqing" last="Chen">Xiaoqing Chen</name>
<affiliation wicri:level="1"><nlm:aff id="A39">Queensland Institute of Medical Research, Brisbane, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Queensland Institute of Medical Research, Brisbane</wicri:regionArea>
<wicri:noRegion>Brisbane</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Rebbeck, Timothy R" sort="Rebbeck, Timothy R" uniqKey="Rebbeck T" first="Timothy R." last="Rebbeck">Timothy R. Rebbeck</name>
<affiliation wicri:level="1"><nlm:aff id="A40">Northern Ireland Regional Genetics Center, Belfast City Hospital, Belfast, United Kingdom</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Northern Ireland Regional Genetics Center, Belfast City Hospital, Belfast</wicri:regionArea>
<wicri:noRegion>Belfast</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Easton, Douglas F" sort="Easton, Douglas F" uniqKey="Easton D" first="Douglas F." last="Easton">Douglas F. Easton</name>
<affiliation wicri:level="4"><nlm:aff id="A41">Center for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Center for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge</wicri:regionArea>
<orgName type="university">Université de Cambridge</orgName>
<placeName><settlement type="city">Cambridge</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Angleterre de l'Est</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Chenevix Trench, Georgia" sort="Chenevix Trench, Georgia" uniqKey="Chenevix Trench G" first="Georgia" last="Chenevix-Trench">Georgia Chenevix-Trench</name>
<affiliation wicri:level="1"><nlm:aff id="A39">Queensland Institute of Medical Research, Brisbane, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Queensland Institute of Medical Research, Brisbane</wicri:regionArea>
<wicri:noRegion>Brisbane</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Antoniou, Antonis C" sort="Antoniou, Antonis C" uniqKey="Antoniou A" first="Antonis C" last="Antoniou">Antonis C. Antoniou</name>
<affiliation wicri:level="4"><nlm:aff id="A41">Center for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Center for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge</wicri:regionArea>
<orgName type="university">Université de Cambridge</orgName>
<placeName><settlement type="city">Cambridge</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Angleterre de l'Est</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Couch, Fergus J" sort="Couch, Fergus J" uniqKey="Couch F" first="Fergus J." last="Couch">Fergus J. Couch</name>
<affiliation wicri:level="2"><nlm:aff id="A2">Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota</wicri:regionArea>
<placeName><region type="state">Minnesota</region>
</placeName>
</affiliation>
</author>
</analytic>
<series><title level="j">Breast cancer research and treatment</title>
<idno type="ISSN">0167-6806</idno>
<idno type="eISSN">1573-7217</idno>
<imprint><date when="2012">2012</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc><textClass></textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en"><p id="P1">Several common germline variants identified through genome-wide association studies of breast cancer risk in the general population have recently been shown to be associated with breast cancer risk for <italic>BRCA1</italic>
 and/or <italic>BRCA2</italic>
 mutation carriers. When combined, these variants can identify marked differences in the absolute risk of developing breast cancer for mutation carriers, suggesting that additional modifier loci may further enhance individual risk assessment for <italic>BRCA1</italic>
 and <italic>BRCA2</italic>
 mutation carriers. Recently, a common variant on 6p22 (rs9393597) was found to be associated with increased breast cancer risk for <italic>BRCA2</italic>
 mutation carriers [Hazard ratio (HR)=1.55, 95% CI 1.25–1.92, p=6.0×10<sup>−5</sup>
]. This observation was based on data from GWAS studies in which, despite statistical correction for multiple comparisons, the possibility of false discovery remains a concern. Here we report on an analysis of this variant in an additional 6,165 <italic>BRCA1</italic>
 and 3,900 <italic>BRCA2</italic>
 mutation carriers from the Consortium of Investigators of Modifiers of <italic>BRCA1/2</italic>
 (CIMBA). In this replication analysis, rs9393597 was not associated with breast cancer risk for <italic>BRCA2</italic>
 mutation carriers [HR=1.09, 95% CI 0.96–1.24, p=0.18]. No association with ovarian cancer risk for <italic>BRCA1</italic>
 or <italic>BRCA2</italic>
 mutation carriers or with breast cancer risk for <italic>BRCA1</italic>
 mutation carriers was observed. This follow-up study suggests that, contrary to our initial report, this variant is not associated with breast cancer risk among individuals with germline <italic>BRCA2</italic>
 mutations.</p>
</div>
</front>
</TEI>
<affiliations><list><country><li>Allemagne</li>
<li>Australie</li>
<li>Autriche</li>
<li>Canada</li>
<li>Danemark</li>
<li>France</li>
<li>Islande</li>
<li>Italie</li>
<li>Lettonie</li>
<li>Pologne</li>
<li>Royaume-Uni</li>
<li>Russie</li>
<li>États-Unis</li>
</country>
<region><li>Angleterre</li>
<li>Angleterre de l'Est</li>
<li>Bade-Wurtemberg</li>
<li>Californie</li>
<li>Delaware</li>
<li>District de Karlsruhe</li>
<li>Hovedstaden</li>
<li>Maryland</li>
<li>Minnesota</li>
<li>Ontario</li>
<li>Pennsylvanie</li>
<li>Toscane</li>
<li>Utah</li>
<li>Victoria (État)</li>
<li>Vienne (Autriche)</li>
<li>État de New York</li>
<li>Île-de-France</li>
</region>
<settlement><li>Cambridge</li>
<li>Copenhague</li>
<li>Heidelberg</li>
<li>Melbourne</li>
<li>Paris</li>
<li>Pise</li>
<li>Toronto</li>
<li>Vienne (Autriche)</li>
</settlement>
<orgName><li>Université Paris-Descartes</li>
<li>Université de Cambridge</li>
<li>Université de Melbourne</li>
<li>Université de Toronto</li>
</orgName>
</list>
<tree><noCountry><name sortKey="Osorio, Ana" sort="Osorio, Ana" uniqKey="Osorio A" first="Ana" last="Osorio">Ana Osorio</name>
<name sortKey="Simard, Jacques" sort="Simard, Jacques" uniqKey="Simard J" first="Jacques" last="Simard">Jacques Simard</name>
</noCountry>
<country name="États-Unis"><region name="Minnesota"><name sortKey="Stevens, Kristen N" sort="Stevens, Kristen N" uniqKey="Stevens K" first="Kristen N." last="Stevens">Kristen N. Stevens</name>
</region>
<name sortKey="Andrulis, Irene L" sort="Andrulis, Irene L" uniqKey="Andrulis I" first="Irene L." last="Andrulis">Irene L. Andrulis</name>
<name sortKey="Beattie, Mary" sort="Beattie, Mary" uniqKey="Beattie M" first="Mary" last="Beattie">Mary Beattie</name>
<name sortKey="Buys, Saundra S" sort="Buys, Saundra S" uniqKey="Buys S" first="Saundra S." last="Buys">Saundra S. Buys</name>
<name sortKey="Couch, Fergus J" sort="Couch, Fergus J" uniqKey="Couch F" first="Fergus J." last="Couch">Fergus J. Couch</name>
<name sortKey="Fredericksen, Zachary" sort="Fredericksen, Zachary" uniqKey="Fredericksen Z" first="Zachary" last="Fredericksen">Zachary Fredericksen</name>
<name sortKey="Godwin, Andrew K" sort="Godwin, Andrew K" uniqKey="Godwin A" first="Andrew K." last="Godwin">Andrew K. Godwin</name>
<name sortKey="Greene, Mark H" sort="Greene, Mark H" uniqKey="Greene M" first="Mark H." last="Greene">Mark H. Greene</name>
<name sortKey="Nathanson, Katherine L" sort="Nathanson, Katherine L" uniqKey="Nathanson K" first="Katherine L." last="Nathanson">Katherine L. Nathanson</name>
<name sortKey="Neuhausen, Susan L" sort="Neuhausen, Susan L" uniqKey="Neuhausen S" first="Susan L." last="Neuhausen">Susan L. Neuhausen</name>
<name sortKey="Offit, Kenneth" sort="Offit, Kenneth" uniqKey="Offit K" first="Kenneth" last="Offit">Kenneth Offit</name>
<name sortKey="Pankratz, Vernon S" sort="Pankratz, Vernon S" uniqKey="Pankratz V" first="Vernon S." last="Pankratz">Vernon S. Pankratz</name>
<name sortKey="Piedmonte, Marion" sort="Piedmonte, Marion" uniqKey="Piedmonte M" first="Marion" last="Piedmonte">Marion Piedmonte</name>
<name sortKey="Sucheston, Lara" sort="Sucheston, Lara" uniqKey="Sucheston L" first="Lara" last="Sucheston">Lara Sucheston</name>
<name sortKey="Szabo, Csilla I" sort="Szabo, Csilla I" uniqKey="Szabo C" first="Csilla I." last="Szabo">Csilla I. Szabo</name>
<name sortKey="Wang, Xianshu" sort="Wang, Xianshu" uniqKey="Wang X" first="Xianshu" last="Wang">Xianshu Wang</name>
</country>
<country name="Canada"><noRegion><name sortKey="Andrulis, Irene L" sort="Andrulis, Irene L" uniqKey="Andrulis I" first="Irene L." last="Andrulis">Irene L. Andrulis</name>
</noRegion>
<name sortKey="Andrulis, Irene L" sort="Andrulis, Irene L" uniqKey="Andrulis I" first="Irene L." last="Andrulis">Irene L. Andrulis</name>
<name sortKey="Andrulis, Irene L" sort="Andrulis, Irene L" uniqKey="Andrulis I" first="Irene L." last="Andrulis">Irene L. Andrulis</name>
</country>
<country name="Danemark"><noRegion><name sortKey="Thomassen, Mads" sort="Thomassen, Mads" uniqKey="Thomassen M" first="Mads" last="Thomassen">Mads Thomassen</name>
</noRegion>
<name sortKey="Hansen, Thomas V O" sort="Hansen, Thomas V O" uniqKey="Hansen T" first="Thomas V. O." last="Hansen">Thomas V. O. Hansen</name>
</country>
<country name="Italie"><region name="Toscane"><name sortKey="Caligo, Maria" sort="Caligo, Maria" uniqKey="Caligo M" first="Maria" last="Caligo">Maria Caligo</name>
</region>
<name sortKey="Montagna, Marco" sort="Montagna, Marco" uniqKey="Montagna M" first="Marco" last="Montagna">Marco Montagna</name>
</country>
<country name="Pologne"><noRegion><name sortKey="Jakubowska, Anna" sort="Jakubowska, Anna" uniqKey="Jakubowska A" first="Anna" last="Jakubowska">Anna Jakubowska</name>
</noRegion>
</country>
<country name="Allemagne"><region name="Bade-Wurtemberg"><name sortKey="Hamann, Ute" sort="Hamann, Ute" uniqKey="Hamann U" first="Ute" last="Hamann">Ute Hamann</name>
</region>
</country>
<country name="France"><region name="Île-de-France"><name sortKey="Stoppa Lyonnet, Dominique" sort="Stoppa Lyonnet, Dominique" uniqKey="Stoppa Lyonnet D" first="Dominique" last="Stoppa-Lyonnet">Dominique Stoppa-Lyonnet</name>
</region>
<name sortKey="Stoppa Lyonnet, Dominique" sort="Stoppa Lyonnet, Dominique" uniqKey="Stoppa Lyonnet D" first="Dominique" last="Stoppa-Lyonnet">Dominique Stoppa-Lyonnet</name>
</country>
<country name="Australie"><region name="Victoria (État)"><name sortKey="Southey, Melissa" sort="Southey, Melissa" uniqKey="Southey M" first="Melissa" last="Southey">Melissa Southey</name>
</region>
<name sortKey="Chen, Xiaoqing" sort="Chen, Xiaoqing" uniqKey="Chen X" first="Xiaoqing" last="Chen">Xiaoqing Chen</name>
<name sortKey="Chenevix Trench, Georgia" sort="Chenevix Trench, Georgia" uniqKey="Chenevix Trench G" first="Georgia" last="Chenevix-Trench">Georgia Chenevix-Trench</name>
<name sortKey="Healey, Sue" sort="Healey, Sue" uniqKey="Healey S" first="Sue" last="Healey">Sue Healey</name>
<name sortKey="Spurdle, Amanda B" sort="Spurdle, Amanda B" uniqKey="Spurdle A" first="Amanda B." last="Spurdle">Amanda B. Spurdle</name>
<name sortKey="Spurdle, Amanda B" sort="Spurdle, Amanda B" uniqKey="Spurdle A" first="Amanda B." last="Spurdle">Amanda B. Spurdle</name>
</country>
<country name="Autriche"><region name="Vienne (Autriche)"><name sortKey="Singer, Christian F" sort="Singer, Christian F" uniqKey="Singer C" first="Christian F." last="Singer">Christian F. Singer</name>
</region>
</country>
<country name="Islande"><noRegion><name sortKey="Arason, Adalgeir" sort="Arason, Adalgeir" uniqKey="Arason A" first="Adalgeir" last="Arason">Adalgeir Arason</name>
</noRegion>
<name sortKey="Arason, Adalgeir" sort="Arason, Adalgeir" uniqKey="Arason A" first="Adalgeir" last="Arason">Adalgeir Arason</name>
</country>
<country name="Russie"><noRegion><name sortKey="Imyanitov, Evgeny" sort="Imyanitov, Evgeny" uniqKey="Imyanitov E" first="Evgeny" last="Imyanitov">Evgeny Imyanitov</name>
</noRegion>
</country>
<country name="Lettonie"><noRegion><name sortKey="Tihomirova, Laima" sort="Tihomirova, Laima" uniqKey="Tihomirova L" first="Laima" last="Tihomirova">Laima Tihomirova</name>
</noRegion>
</country>
<country name="Royaume-Uni"><noRegion><name sortKey="Rebbeck, Timothy R" sort="Rebbeck, Timothy R" uniqKey="Rebbeck T" first="Timothy R." last="Rebbeck">Timothy R. Rebbeck</name>
</noRegion>
<name sortKey="Antoniou, Antonis C" sort="Antoniou, Antonis C" uniqKey="Antoniou A" first="Antonis C" last="Antoniou">Antonis C. Antoniou</name>
<name sortKey="Easton, Douglas F" sort="Easton, Douglas F" uniqKey="Easton D" first="Douglas F." last="Easton">Douglas F. Easton</name>
</country>
</tree>
</affiliations>
</record>

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

Evaluation of chromosome 6p22 as a breast cancer risk modifier locus in a follow-up study of BRCA2 mutation carriers

Evaluation of chromosome 6p22 as a breast cancer risk modifier locus in a follow-up study of BRCA2 mutation carriers

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