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Common genetic variation at BARD1 is not associated with Breast cancer risk in BRCA1 or BRCA2 mutation carriers

Identifieur interne : 006202 ( Main/Exploration ); précédent : 006201; suivant : 006203

Common genetic variation at BARD1 is not associated with Breast cancer risk in BRCA1 or BRCA2 mutation carriers

Auteurs : Amanda B. Spurdle [Australie] ; Louise Marquart [Australie] ; Lesley Mcguffog [Royaume-Uni] ; Sue Healey [Australie] ; Olga Sinilnikova [France] ; Fei Wan [États-Unis] ; Xiaoqing Chen [Australie] ; Jonathan Beesley [Australie] ; Christian F. Singer [Autriche] ; Anne-Catharine Dressler [Autriche] ; Daphne Gschwantler-Kaulich [Autriche] ; Joanne L. Blum [États-Unis] ; Nadine Tung [États-Unis] ; Jeff Weitzel [États-Unis] ; Henry Lynch [États-Unis] ; Judy Garber [États-Unis] ; Douglas F. Easton [Royaume-Uni] ; Susan Peock [Royaume-Uni] ; Margaret Cook [Royaume-Uni] ; Clare T. Oliver [Royaume-Uni] ; Debra Frost [Royaume-Uni] ; Don Conroy [Royaume-Uni] ; D. Gareth Evans [Royaume-Uni] ; Fiona Lalloo [Royaume-Uni] ; Ros Eeles [Royaume-Uni] ; Louise Izatt [Royaume-Uni] ; Rosemarie Davidson [Royaume-Uni] ; Carol Chu [Royaume-Uni] ; Diana Eccles [Royaume-Uni] ; Christina G. Selkirk [États-Unis] ; Mary Daly [États-Unis] ; Claudine Isaacs [États-Unis] ; Dominique Stoppa-Lyonnet [France] ; Olga M. Sinilnikova [France] ; Bruno Buecher [France] ; Muriel Belotti [France] ; Sylvie Mazoyer [France] ; Laure Barjhoux [France] ; Carole Verny-Pierre [France] ; Christine Lasset [France] ; Hélène Dreyfus [France] ; Pascal Pujol [France] ; Marie-Agnès Collonge-Rame [France] ; Matti A. Rookus [Pays-Bas] ; Senno Verhoef [Pays-Bas] ; Mieke Kriege [Pays-Bas] ; Nicoline Hoogerbrugge [Pays-Bas] ; Margreet G. E. M. Ausems [Pays-Bas] ; Theo A. Van Os [Pays-Bas] ; Juul Wijnen [Pays-Bas] ; Peter Devilee [Pays-Bas] ; Hanne E. J. Meijers-Heijboer [Pays-Bas] ; Marinus J. Blok [Pays-Bas] ; Tuomas Heikkinen [Finlande] ; Heli Nevanlinna [Finlande] ; Anna Jakubowska [Pologne] ; Jan Lubi Ski [Pologne] ; Tomasz Huzarski [Pologne] ; Tomasz Byrski [Pologne] ; Francine Durocher [Canada] ; Fergus J. Couch [États-Unis] ; Noralane M. Lindor [États-Unis] ; Xianshu Wang [États-Unis] ; Mads Thomassen [Danemark] ; Susan Domchek [États-Unis] ; Kate Nathanson [États-Unis] ; Ma Caligo [Italie] ; Helena Jernström [Suède] ; Annelie Liljegren [Suède] ; Hans Ehrencrona [Suède] ; Per Karlsson [Suède] ; Patricia A. Ganz [États-Unis] ; Olufunmilayo I. Olopade [États-Unis] ; Gail Tomlinson [États-Unis] ; Susan Neuhausen [États-Unis] ; Antonis C. Antoniou [Royaume-Uni] ; Georgia Chenevix-Trench [Australie] ; Timothy R. Rebbeck [États-Unis]

Source :

RBID : PMC:3089675

Abstract

Background

Inherited BRCA1 and BRCA2 (BRCA1/2) mutations confer elevated breast cancer risk. Knowledge of factors that can improve breast cancer risk assessment in BRCA1/2 mutation carriers may improve personalized cancer prevention strategies.

Methods

A cohort of 5,546 BRCA1 and 2,865 BRCA2 mutation carriers was used to evaluate risk of breast cancer associated with BARD1 Cys557Ser. In a second non-independent cohort of 1,537 of BRCA1 and 839 BRCA2 mutation carriers, BARD1 haplotypes were also evaluated.

Results

The BARD1 Cys557Ser variant was not significantly associated with risk of breast cancer from single SNP analysis, with a pooled effect estimate of 0.90 (95%CI: 0.71-1.15) in BRCA1 carriers and 0.87 (95%CI: 0.59-1.29) in BRCA2 carriers. Further analysis of haplotypes at BARD1 also revealed no evidence that additional common genetic variation not captured by Cys557Ser was associated with breast cancer risk.

Conclusion

Evidence to date does not support a role for BARD1 variation, including the Cy557Ser variant, as a modifier of risk in BRCA1/2 mutation carriers.

Impact

Interactors of BRCA1/2 have been implicated as modifiers of BRCA1/2-associated cancer risk. Our finding that BARD1 does not contribute to this risk modification may focus research on other genes that do modify BRCA1/2-associated cancer risk.


Url:
DOI: 10.1158/1055-9965.EPI-10-0909
PubMed: 21393566
PubMed Central: 3089675


Affiliations:


Links toward previous steps (curation, corpus...)


Le document en format XML

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<name sortKey="Eeles, Ros" sort="Eeles, Ros" uniqKey="Eeles R" first="Ros" last="Eeles">Ros Eeles</name>
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<name sortKey="Izatt, Louise" sort="Izatt, Louise" uniqKey="Izatt L" first="Louise" last="Izatt">Louise Izatt</name>
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<name sortKey="Davidson, Rosemarie" sort="Davidson, Rosemarie" uniqKey="Davidson R" first="Rosemarie" last="Davidson">Rosemarie Davidson</name>
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<name sortKey="Chu, Carol" sort="Chu, Carol" uniqKey="Chu C" first="Carol" last="Chu">Carol Chu</name>
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<name sortKey="Eccles, Diana" sort="Eccles, Diana" uniqKey="Eccles D" first="Diana" last="Eccles">Diana Eccles</name>
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<name sortKey="Selkirk, Christina G" sort="Selkirk, Christina G" uniqKey="Selkirk C" first="Christina G." last="Selkirk">Christina G. Selkirk</name>
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<name sortKey="Daly, Mary" sort="Daly, Mary" uniqKey="Daly M" first="Mary" last="Daly">Mary Daly</name>
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<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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<nlm:aff id="A22">INSERM U509, Service de Génétique Oncologique, Institut Curie, Université Paris-Descartes, Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
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<name sortKey="Sinilnikova, Olga M" sort="Sinilnikova, Olga M" uniqKey="Sinilnikova O" first="Olga M." last="Sinilnikova">Olga M. Sinilnikova</name>
<affiliation wicri:level="3">
<nlm:aff id="A23">Unité Mixte de Génétique Constitutionnelle des Cancers Fréquents, Centre Hospitalier Universitaire de Lyon / Centre Léon Bérard, Lyon, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Unité Mixte de Génétique Constitutionnelle des Cancers Fréquents, Centre Hospitalier Universitaire de Lyon / Centre Léon Bérard, Lyon</wicri:regionArea>
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<settlement type="city">Lyon</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3">
<nlm:aff id="A24">Equipe labellisée LIGUE 2008, UMR5201 CNRS, Centre Léon Bérard, Université de Lyon, Lyon, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Equipe labellisée LIGUE 2008, UMR5201 CNRS, Centre Léon Bérard, Université de Lyon, Lyon</wicri:regionArea>
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<region type="region">Auvergne-Rhône-Alpes</region>
<region type="old region">Rhône-Alpes</region>
<settlement type="city">Lyon</settlement>
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</affiliation>
</author>
<author>
<name sortKey="Buecher, Bruno" sort="Buecher, Bruno" uniqKey="Buecher B" first="Bruno" last="Buecher">Bruno Buecher</name>
<affiliation wicri:level="4">
<nlm:aff id="A22">INSERM U509, Service de Génétique Oncologique, Institut Curie, Université Paris-Descartes, Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>INSERM U509, Service de Génétique Oncologique, Institut Curie, Université Paris-Descartes, Paris</wicri:regionArea>
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<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>
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<author>
<name sortKey="Belotti, Muriel" sort="Belotti, Muriel" uniqKey="Belotti M" first="Muriel" last="Belotti">Muriel Belotti</name>
<affiliation wicri:level="4">
<nlm:aff id="A22">INSERM U509, Service de Génétique Oncologique, Institut Curie, Université Paris-Descartes, Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>INSERM U509, Service de Génétique Oncologique, Institut Curie, Université Paris-Descartes, Paris</wicri:regionArea>
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<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>
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</author>
<author>
<name sortKey="Mazoyer, Sylvie" sort="Mazoyer, Sylvie" uniqKey="Mazoyer S" first="Sylvie" last="Mazoyer">Sylvie Mazoyer</name>
<affiliation wicri:level="3">
<nlm:aff id="A24">Equipe labellisée LIGUE 2008, UMR5201 CNRS, Centre Léon Bérard, Université de Lyon, Lyon, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Equipe labellisée LIGUE 2008, UMR5201 CNRS, Centre Léon Bérard, Université de Lyon, Lyon</wicri:regionArea>
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<region type="region">Auvergne-Rhône-Alpes</region>
<region type="old region">Rhône-Alpes</region>
<settlement type="city">Lyon</settlement>
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</affiliation>
</author>
<author>
<name sortKey="Barjhoux, Laure" sort="Barjhoux, Laure" uniqKey="Barjhoux L" first="Laure" last="Barjhoux">Laure Barjhoux</name>
<affiliation wicri:level="3">
<nlm:aff id="A23">Unité Mixte de Génétique Constitutionnelle des Cancers Fréquents, Centre Hospitalier Universitaire de Lyon / Centre Léon Bérard, Lyon, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Unité Mixte de Génétique Constitutionnelle des Cancers Fréquents, Centre Hospitalier Universitaire de Lyon / Centre Léon Bérard, Lyon</wicri:regionArea>
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<region type="region">Auvergne-Rhône-Alpes</region>
<region type="old region">Rhône-Alpes</region>
<settlement type="city">Lyon</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3">
<nlm:aff id="A24">Equipe labellisée LIGUE 2008, UMR5201 CNRS, Centre Léon Bérard, Université de Lyon, Lyon, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Equipe labellisée LIGUE 2008, UMR5201 CNRS, Centre Léon Bérard, Université de Lyon, Lyon</wicri:regionArea>
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<region type="region">Auvergne-Rhône-Alpes</region>
<region type="old region">Rhône-Alpes</region>
<settlement type="city">Lyon</settlement>
</placeName>
</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>
<affiliation wicri:level="3">
<nlm:aff id="A23">Unité Mixte de Génétique Constitutionnelle des Cancers Fréquents, Centre Hospitalier Universitaire de Lyon / Centre Léon Bérard, Lyon, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Unité Mixte de Génétique Constitutionnelle des Cancers Fréquents, Centre Hospitalier Universitaire de Lyon / Centre Léon Bérard, Lyon</wicri:regionArea>
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<region type="region">Auvergne-Rhône-Alpes</region>
<region type="old region">Rhône-Alpes</region>
<settlement type="city">Lyon</settlement>
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</affiliation>
<affiliation wicri:level="3">
<nlm:aff id="A24">Equipe labellisée LIGUE 2008, UMR5201 CNRS, Centre Léon Bérard, Université de Lyon, Lyon, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Equipe labellisée LIGUE 2008, UMR5201 CNRS, Centre Léon Bérard, Université de Lyon, Lyon</wicri:regionArea>
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<region type="region">Auvergne-Rhône-Alpes</region>
<region type="old region">Rhône-Alpes</region>
<settlement type="city">Lyon</settlement>
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</affiliation>
</author>
<author>
<name sortKey="Lasset, Christine" sort="Lasset, Christine" uniqKey="Lasset C" first="Christine" last="Lasset">Christine Lasset</name>
<affiliation wicri:level="3">
<nlm:aff id="A25">CNRS UMR5558, Université Lyon 1, and Unité de Prévention et d’Epidémiologie Génétique, Centre Léon Bérard, Lyon, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>CNRS UMR5558, Université Lyon 1, and Unité de Prévention et d’Epidémiologie Génétique, Centre Léon Bérard, Lyon</wicri:regionArea>
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<region type="region">Auvergne-Rhône-Alpes</region>
<region type="old region">Rhône-Alpes</region>
<settlement type="city">Lyon</settlement>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Dreyfus, Helene" sort="Dreyfus, Helene" uniqKey="Dreyfus H" first="Hélène" last="Dreyfus">Hélène Dreyfus</name>
<affiliation wicri:level="3">
<nlm:aff id="A26">Department of Genetics, Centre Hospitalier Universitaire de Grenoble, and Institut Albert Bonniot, Université de Grenoble, Grenoble, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Department of Genetics, Centre Hospitalier Universitaire de Grenoble, and Institut Albert Bonniot, Université de Grenoble, Grenoble</wicri:regionArea>
<placeName>
<region type="region">Auvergne-Rhône-Alpes</region>
<region type="old region">Rhône-Alpes</region>
<settlement type="city">Grenoble</settlement>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Pujol, Pascal" sort="Pujol, Pascal" uniqKey="Pujol P" first="Pascal" last="Pujol">Pascal Pujol</name>
<affiliation wicri:level="3">
<nlm:aff id="A27">Unité d’Oncogénétique, Centre Hospitalier Universitaire Arnaud de Villeneuve, and INSERM 896, CRCM Val d’Aurelle, Montpellier, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Unité d’Oncogénétique, Centre Hospitalier Universitaire Arnaud de Villeneuve, and INSERM 896, CRCM Val d’Aurelle, Montpellier</wicri:regionArea>
<placeName>
<region type="region">Occitanie (région administrative)</region>
<region type="old region">Languedoc-Roussillon</region>
<settlement type="city">Montpellier</settlement>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Collonge Rame, Marie Agnes" sort="Collonge Rame, Marie Agnes" uniqKey="Collonge Rame M" first="Marie-Agnès" last="Collonge-Rame">Marie-Agnès Collonge-Rame</name>
<affiliation wicri:level="3">
<nlm:aff id="A28">Service de Génétique-Histologie-Biologie du Développement et de la Reproduction, Centre Hospitalier Universitaire de Besançon, Besançon, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Service de Génétique-Histologie-Biologie du Développement et de la Reproduction, Centre Hospitalier Universitaire de Besançon, Besançon</wicri:regionArea>
<placeName>
<region type="region">Bourgogne-Franche-Comté</region>
<region type="old region">Franche-Comté</region>
<settlement type="city">Besançon</settlement>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Rookus, Matti A" sort="Rookus, Matti A" uniqKey="Rookus M" first="Matti A." last="Rookus">Matti A. Rookus</name>
<affiliation wicri:level="3">
<nlm:aff id="A30">Netherlands Cancer Institute, Amsterdam, Netherlands</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Netherlands Cancer Institute, Amsterdam</wicri:regionArea>
<placeName>
<settlement type="city">Amsterdam</settlement>
<region nuts="2" type="province">Hollande-Septentrionale</region>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Verhoef, Senno" sort="Verhoef, Senno" uniqKey="Verhoef S" first="Senno" last="Verhoef">Senno Verhoef</name>
<affiliation wicri:level="3">
<nlm:aff id="A30">Netherlands Cancer Institute, Amsterdam, Netherlands</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Netherlands Cancer Institute, Amsterdam</wicri:regionArea>
<placeName>
<settlement type="city">Amsterdam</settlement>
<region nuts="2" type="province">Hollande-Septentrionale</region>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Kriege, Mieke" sort="Kriege, Mieke" uniqKey="Kriege M" first="Mieke" last="Kriege">Mieke Kriege</name>
<affiliation wicri:level="3">
<nlm:aff id="A31">Erasmus Medical Center, Rotterdam, Netherlands</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Erasmus Medical Center, Rotterdam</wicri:regionArea>
<placeName>
<settlement type="city">Rotterdam</settlement>
<region nuts="2" type="province">Hollande-Méridionale</region>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Hoogerbrugge, Nicoline" sort="Hoogerbrugge, Nicoline" uniqKey="Hoogerbrugge N" first="Nicoline" last="Hoogerbrugge">Nicoline Hoogerbrugge</name>
<affiliation wicri:level="3">
<nlm:aff id="A32">Radboud University Nijmegen Medical Center, Nijmegen, Netherlands</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Radboud University Nijmegen Medical Center, Nijmegen</wicri:regionArea>
<placeName>
<settlement type="city">Nimègue</settlement>
<region type="province" nuts="2">Gueldre</region>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Ausems, Margreet G E M" sort="Ausems, Margreet G E M" uniqKey="Ausems M" first="Margreet G. E. M." last="Ausems">Margreet G. E. M. Ausems</name>
<affiliation wicri:level="3">
<nlm:aff id="A33">University Medical Center Utrecht, Utrecht, Netherlands</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>University Medical Center Utrecht, Utrecht</wicri:regionArea>
<placeName>
<settlement type="city">Utrecht</settlement>
<region nuts="2" type="province">Utrecht (province)</region>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Van Os, Theo A" sort="Van Os, Theo A" uniqKey="Van Os T" first="Theo A." last="Van Os">Theo A. Van Os</name>
<affiliation wicri:level="1">
<nlm:aff id="A34">Amsterdam Medical Center, Netherlands</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Amsterdam Medical Center</wicri:regionArea>
</affiliation>
</author>
<author>
<name sortKey="Wijnen, Juul" sort="Wijnen, Juul" uniqKey="Wijnen J" first="Juul" last="Wijnen">Juul Wijnen</name>
<affiliation wicri:level="3">
<nlm:aff id="A35">Leiden University Medical Center, Leiden, Netherlands</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Leiden University Medical Center, Leiden</wicri:regionArea>
<placeName>
<settlement type="city">Leyde</settlement>
<region nuts="2" type="province">Hollande-Méridionale</region>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Devilee, Peter" sort="Devilee, Peter" uniqKey="Devilee P" first="Peter" last="Devilee">Peter Devilee</name>
<affiliation wicri:level="3">
<nlm:aff id="A35">Leiden University Medical Center, Leiden, Netherlands</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Leiden University Medical Center, Leiden</wicri:regionArea>
<placeName>
<settlement type="city">Leyde</settlement>
<region nuts="2" type="province">Hollande-Méridionale</region>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Meijers Heijboer, Hanne E J" sort="Meijers Heijboer, Hanne E J" uniqKey="Meijers Heijboer H" first="Hanne E. J." last="Meijers-Heijboer">Hanne E. J. Meijers-Heijboer</name>
<affiliation wicri:level="3">
<nlm:aff id="A36">VU University Medical Center, Amsterdam, Netherlands</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>VU University Medical Center, Amsterdam</wicri:regionArea>
<placeName>
<settlement type="city">Amsterdam</settlement>
<region nuts="2" type="province">Hollande-Septentrionale</region>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Blok, Marinus J" sort="Blok, Marinus J" uniqKey="Blok M" first="Marinus J." last="Blok">Marinus J. Blok</name>
<affiliation wicri:level="1">
<nlm:aff id="A37">University Hospital Maastricht, Maastricht, Netherlands</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>University Hospital Maastricht, Maastricht</wicri:regionArea>
<wicri:noRegion>Maastricht</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Heikkinen, Tuomas" sort="Heikkinen, Tuomas" uniqKey="Heikkinen T" first="Tuomas" last="Heikkinen">Tuomas Heikkinen</name>
<affiliation wicri:level="1">
<nlm:aff id="A38">Department of Obstetrics and Gynegology, Helsinki University Central Hospital, Helsinki, Finland</nlm:aff>
<country xml:lang="fr">Finlande</country>
<wicri:regionArea>Department of Obstetrics and Gynegology, Helsinki University Central Hospital, Helsinki</wicri:regionArea>
<wicri:noRegion>Helsinki</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Nevanlinna, Heli" sort="Nevanlinna, Heli" uniqKey="Nevanlinna H" first="Heli" last="Nevanlinna">Heli Nevanlinna</name>
<affiliation wicri:level="1">
<nlm:aff id="A38">Department of Obstetrics and Gynegology, Helsinki University Central Hospital, Helsinki, Finland</nlm:aff>
<country xml:lang="fr">Finlande</country>
<wicri:regionArea>Department of Obstetrics and Gynegology, Helsinki University Central Hospital, Helsinki</wicri:regionArea>
<wicri:noRegion>Helsinki</wicri:noRegion>
</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="A39">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>
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</affiliation>
</author>
<author>
<name sortKey="Lubi Ski, Jan" sort="Lubi Ski, Jan" uniqKey="Lubi Ski J" first="Jan" last="Lubi Ski">Jan Lubi Ski</name>
<affiliation wicri:level="1">
<nlm:aff id="A39">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="Huzarski, Tomasz" sort="Huzarski, Tomasz" uniqKey="Huzarski T" first="Tomasz" last="Huzarski">Tomasz Huzarski</name>
<affiliation wicri:level="1">
<nlm:aff id="A39">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="Byrski, Tomasz" sort="Byrski, Tomasz" uniqKey="Byrski T" first="Tomasz" last="Byrski">Tomasz Byrski</name>
<affiliation wicri:level="1">
<nlm:aff id="A39">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="Durocher, Francine" sort="Durocher, Francine" uniqKey="Durocher F" first="Francine" last="Durocher">Francine Durocher</name>
<affiliation wicri:level="1">
<nlm:aff id="A40">Centre Hospitalier Universitaire de Québec and Laval University, Quebec City, Canada</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Centre Hospitalier Universitaire de Québec and Laval University, Quebec City</wicri:regionArea>
<wicri:noRegion>Quebec City</wicri:noRegion>
</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="A41">Mayo Clinic, Rochester, MN, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Mayo Clinic, Rochester, MN</wicri:regionArea>
<placeName>
<region type="state">Minnesota</region>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Lindor, Noralane M" sort="Lindor, Noralane M" uniqKey="Lindor N" first="Noralane M." last="Lindor">Noralane M. Lindor</name>
<affiliation wicri:level="2">
<nlm:aff id="A41">Mayo Clinic, Rochester, MN, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Mayo Clinic, Rochester, MN</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="A41">Mayo Clinic, Rochester, MN, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Mayo Clinic, Rochester, MN</wicri:regionArea>
<placeName>
<region type="state">Minnesota</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="A42">Department of Clinical Genetics, Odense University Hospital, Denmark</nlm:aff>
<country xml:lang="fr">Danemark</country>
<wicri:regionArea>Department of Clinical Genetics, Odense University Hospital</wicri:regionArea>
<wicri:noRegion>Odense University Hospital</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Domchek, Susan" sort="Domchek, Susan" uniqKey="Domchek S" first="Susan" last="Domchek">Susan Domchek</name>
<affiliation wicri:level="2">
<nlm:aff id="A4">University of Pennsylvania School of Medicine, Philadelphia, PA, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>University of Pennsylvania School of Medicine, Philadelphia, PA</wicri:regionArea>
<placeName>
<region type="state">Pennsylvanie</region>
</placeName>
</affiliation>
<affiliation wicri:level="2">
<nlm:aff id="A5">Abramson Cancer Center, Philadelphia, PA, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Abramson Cancer Center, Philadelphia, PA</wicri:regionArea>
<placeName>
<region type="state">Pennsylvanie</region>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Nathanson, Kate" sort="Nathanson, Kate" uniqKey="Nathanson K" first="Kate" last="Nathanson">Kate Nathanson</name>
<affiliation wicri:level="2">
<nlm:aff id="A4">University of Pennsylvania School of Medicine, Philadelphia, PA, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>University of Pennsylvania School of Medicine, Philadelphia, PA</wicri:regionArea>
<placeName>
<region type="state">Pennsylvanie</region>
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</affiliation>
<affiliation wicri:level="2">
<nlm:aff id="A5">Abramson Cancer Center, Philadelphia, PA, USA</nlm:aff>
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<author>
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<name sortKey="Liljegren, Annelie" sort="Liljegren, Annelie" uniqKey="Liljegren A" first="Annelie" last="Liljegren">Annelie Liljegren</name>
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<nlm:aff id="A46">Rudbeck Laboratory, Uppsala University, Sweden</nlm:aff>
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<name sortKey="Karlsson, Per" sort="Karlsson, Per" uniqKey="Karlsson P" first="Per" last="Karlsson">Per Karlsson</name>
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<nlm:aff id="A47">Sahlgrenska University Hospital, Gothenburg, Sweden</nlm:aff>
<country xml:lang="fr">Suède</country>
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<nlm:aff id="A48">UCLA Schools of Medicine and Public Health and Jonsson Comprehensive Cancer Center, Los Angeles, CA, USA</nlm:aff>
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<author>
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<nlm:aff id="A49">University of Chicago, Chicago, IL, USA</nlm:aff>
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<placeName>
<region type="state">Illinois</region>
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<author>
<name sortKey="Tomlinson, Gail" sort="Tomlinson, Gail" uniqKey="Tomlinson G" first="Gail" last="Tomlinson">Gail Tomlinson</name>
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<nlm:aff id="A50">University of Texas, Southwestern Medical Center, Dallas, TX, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
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<region type="state">Texas</region>
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<name sortKey="Neuhausen, Susan" sort="Neuhausen, Susan" uniqKey="Neuhausen S" first="Susan" last="Neuhausen">Susan Neuhausen</name>
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<nlm:aff id="A9">City of Hope, Duarte, CA, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>City of Hope, Duarte, CA</wicri:regionArea>
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<region type="state">Californie</region>
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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>
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<nlm:aff id="A2">Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, UK.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Royaume-Uni</country>
<wicri:regionArea>Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge</wicri:regionArea>
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<region type="country">Angleterre</region>
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</placeName>
<orgName type="university">Université de Cambridge</orgName>
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<name sortKey="Chenevix Trench, Georgia" sort="Chenevix Trench, Georgia" uniqKey="Chenevix Trench G" first="Georgia" last="Chenevix-Trench">Georgia Chenevix-Trench</name>
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<nlm:aff id="A1">Queensland Institute for Medical Research, Brisbane, Australia.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Australie</country>
<wicri:regionArea>Queensland Institute for Medical Research, Brisbane</wicri:regionArea>
<wicri:noRegion>Brisbane</wicri:noRegion>
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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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<nlm:aff id="A4">University of Pennsylvania School of Medicine, Philadelphia, PA, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>University of Pennsylvania School of Medicine, Philadelphia, PA</wicri:regionArea>
<placeName>
<region type="state">Pennsylvanie</region>
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<affiliation wicri:level="2">
<nlm:aff id="A5">Abramson Cancer Center, Philadelphia, PA, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Abramson Cancer Center, Philadelphia, PA</wicri:regionArea>
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<title xml:lang="en" level="a" type="main">Common genetic variation at
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is not associated with Breast cancer risk in
<italic>BRCA1</italic>
or
<italic>BRCA2</italic>
mutation carriers</title>
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<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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<nlm:aff id="A1">Queensland Institute for Medical Research, Brisbane, Australia.</nlm:aff>
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<nlm:aff id="A1">Queensland Institute for Medical Research, Brisbane, Australia.</nlm:aff>
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<name sortKey="Healey, Sue" sort="Healey, Sue" uniqKey="Healey S" first="Sue" last="Healey">Sue Healey</name>
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<nlm:aff id="A1">Queensland Institute for Medical Research, Brisbane, Australia.</nlm:aff>
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<wicri:regionArea>Queensland Institute for Medical Research, Brisbane</wicri:regionArea>
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<name sortKey="Sinilnikova, Olga" sort="Sinilnikova, Olga" uniqKey="Sinilnikova O" first="Olga" last="Sinilnikova">Olga Sinilnikova</name>
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<nlm:aff id="A3">IARC, Lyon, France</nlm:aff>
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<name sortKey="Wan, Fei" sort="Wan, Fei" uniqKey="Wan F" first="Fei" last="Wan">Fei Wan</name>
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<nlm:aff id="A4">University of Pennsylvania School of Medicine, Philadelphia, PA, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
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<name sortKey="Chen, Xiaoqing" sort="Chen, Xiaoqing" uniqKey="Chen X" first="Xiaoqing" last="Chen">Xiaoqing Chen</name>
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<nlm:aff id="A1">Queensland Institute for Medical Research, Brisbane, Australia.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Australie</country>
<wicri:regionArea>Queensland Institute for Medical Research, Brisbane</wicri:regionArea>
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<nlm:aff id="A1">Queensland Institute for Medical Research, Brisbane, Australia.</nlm:aff>
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<wicri:regionArea>Queensland Institute for Medical Research, Brisbane</wicri:regionArea>
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<nlm:aff id="A6">Medical University of Vienna, Waehringer Guertel 18-20, A-1090 Vienna, Austria.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Autriche</country>
<wicri:regionArea>Medical University of Vienna, Waehringer Guertel 18-20, A-1090 Vienna</wicri:regionArea>
<wicri:noRegion>A-1090 Vienna</wicri:noRegion>
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<author>
<name sortKey="Dressler, Anne Catharine" sort="Dressler, Anne Catharine" uniqKey="Dressler A" first="Anne-Catharine" last="Dressler">Anne-Catharine Dressler</name>
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<nlm:aff id="A6">Medical University of Vienna, Waehringer Guertel 18-20, A-1090 Vienna, Austria.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Autriche</country>
<wicri:regionArea>Medical University of Vienna, Waehringer Guertel 18-20, A-1090 Vienna</wicri:regionArea>
<wicri:noRegion>A-1090 Vienna</wicri:noRegion>
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</author>
<author>
<name sortKey="Gschwantler Kaulich, Daphne" sort="Gschwantler Kaulich, Daphne" uniqKey="Gschwantler Kaulich D" first="Daphne" last="Gschwantler-Kaulich">Daphne Gschwantler-Kaulich</name>
<affiliation wicri:level="1">
<nlm:aff id="A6">Medical University of Vienna, Waehringer Guertel 18-20, A-1090 Vienna, Austria.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Autriche</country>
<wicri:regionArea>Medical University of Vienna, Waehringer Guertel 18-20, A-1090 Vienna</wicri:regionArea>
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</author>
<author>
<name sortKey="Blum, Joanne L" sort="Blum, Joanne L" uniqKey="Blum J" first="Joanne L." last="Blum">Joanne L. Blum</name>
<affiliation wicri:level="2">
<nlm:aff id="A7">Hereditary Cancer Risk Program at the Baylor-Sammons Cancer Center, Dallas, TX</nlm:aff>
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<placeName>
<region type="state">Texas</region>
</placeName>
<wicri:cityArea>Hereditary Cancer Risk Program at the Baylor-Sammons Cancer Center, Dallas</wicri:cityArea>
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<author>
<name sortKey="Tung, Nadine" sort="Tung, Nadine" uniqKey="Tung N" first="Nadine" last="Tung">Nadine Tung</name>
<affiliation wicri:level="2">
<nlm:aff id="A8">Beth Israel Deaconess Medical Center, Boston, MA, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Beth Israel Deaconess Medical Center, Boston, MA</wicri:regionArea>
<placeName>
<region type="state">Massachusetts</region>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Weitzel, Jeff" sort="Weitzel, Jeff" uniqKey="Weitzel J" first="Jeff" last="Weitzel">Jeff Weitzel</name>
<affiliation wicri:level="2">
<nlm:aff id="A9">City of Hope, Duarte, CA, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>City of Hope, Duarte, CA</wicri:regionArea>
<placeName>
<region type="state">Californie</region>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Lynch, Henry" sort="Lynch, Henry" uniqKey="Lynch H" first="Henry" last="Lynch">Henry Lynch</name>
<affiliation wicri:level="2">
<nlm:aff id="A10">Creighton University, Omaha, NE, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Creighton University, Omaha, NE</wicri:regionArea>
<placeName>
<region type="state">Nebraska</region>
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</affiliation>
</author>
<author>
<name sortKey="Garber, Judy" sort="Garber, Judy" uniqKey="Garber J" first="Judy" last="Garber">Judy Garber</name>
<affiliation wicri:level="2">
<nlm:aff id="A11">Dana Farber Cancer Institute, Boston, MA, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Dana Farber Cancer Institute, Boston, MA</wicri:regionArea>
<placeName>
<region type="state">Massachusetts</region>
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</affiliation>
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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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<nlm:aff id="A2">Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, UK.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Royaume-Uni</country>
<wicri:regionArea>Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge</wicri:regionArea>
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<region type="country">Angleterre</region>
<region type="région" nuts="1">Angleterre de l'Est</region>
</placeName>
<orgName type="university">Université de Cambridge</orgName>
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</author>
<author>
<name sortKey="Peock, Susan" sort="Peock, Susan" uniqKey="Peock S" first="Susan" last="Peock">Susan Peock</name>
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<nlm:aff id="A2">Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, UK.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Royaume-Uni</country>
<wicri:regionArea>Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge</wicri:regionArea>
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<settlement type="city">Cambridge</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Angleterre de l'Est</region>
</placeName>
<orgName type="university">Université de Cambridge</orgName>
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<author>
<name sortKey="Cook, Margaret" sort="Cook, Margaret" uniqKey="Cook M" first="Margaret" last="Cook">Margaret Cook</name>
<affiliation wicri:level="4">
<nlm:aff id="A2">Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, UK.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Royaume-Uni</country>
<wicri:regionArea>Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge</wicri:regionArea>
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<region type="country">Angleterre</region>
<region type="région" nuts="1">Angleterre de l'Est</region>
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<orgName type="university">Université de Cambridge</orgName>
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<author>
<name sortKey="Oliver, Clare T" sort="Oliver, Clare T" uniqKey="Oliver C" first="Clare T." last="Oliver">Clare T. Oliver</name>
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<nlm:aff id="A12">Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge</wicri:regionArea>
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<region type="country">Angleterre</region>
<region type="région" nuts="1">Angleterre de l'Est</region>
</placeName>
<orgName type="university">Université de Cambridge</orgName>
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<author>
<name sortKey="Frost, Debra" sort="Frost, Debra" uniqKey="Frost D" first="Debra" last="Frost">Debra Frost</name>
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<nlm:aff id="A12">Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge</wicri:regionArea>
<placeName>
<settlement type="city">Cambridge</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Angleterre de l'Est</region>
</placeName>
<orgName type="university">Université de Cambridge</orgName>
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<author>
<name sortKey="Conroy, Don" sort="Conroy, Don" uniqKey="Conroy D" first="Don" last="Conroy">Don Conroy</name>
<affiliation wicri:level="4">
<nlm:aff id="A12">Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge</wicri:regionArea>
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<settlement type="city">Cambridge</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Angleterre de l'Est</region>
</placeName>
<orgName type="university">Université de Cambridge</orgName>
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<author>
<name sortKey="Evans, D Gareth" sort="Evans, D Gareth" uniqKey="Evans D" first="D. Gareth" last="Evans">D. Gareth Evans</name>
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<nlm:aff id="A13">Genetic Medicine, Manchester Academic Health Sciences Centre, Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK</nlm:aff>
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<wicri:regionArea>Genetic Medicine, Manchester Academic Health Sciences Centre, Central Manchester University Hospitals NHS Foundation Trust, Manchester</wicri:regionArea>
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<settlement type="city">Manchester</settlement>
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<region type="région" nuts="1">Grand Manchester</region>
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<author>
<name sortKey="Lalloo, Fiona" sort="Lalloo, Fiona" uniqKey="Lalloo F" first="Fiona" last="Lalloo">Fiona Lalloo</name>
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<nlm:aff id="A13">Genetic Medicine, Manchester Academic Health Sciences Centre, Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Genetic Medicine, Manchester Academic Health Sciences Centre, Central Manchester University Hospitals NHS Foundation Trust, Manchester</wicri:regionArea>
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<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Manchester</region>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Eeles, Ros" sort="Eeles, Ros" uniqKey="Eeles R" first="Ros" last="Eeles">Ros Eeles</name>
<affiliation wicri:level="1">
<nlm:aff id="A14">Oncogenetics Team, The Institute of Cancer Research and Royal Marsden NHS Foundation Trust, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Oncogenetics Team, The Institute of Cancer Research and Royal Marsden NHS Foundation Trust</wicri:regionArea>
<wicri:noRegion>The Institute of Cancer Research and Royal Marsden NHS Foundation Trust</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Izatt, Louise" sort="Izatt, Louise" uniqKey="Izatt L" first="Louise" last="Izatt">Louise Izatt</name>
<affiliation wicri:level="3">
<nlm:aff id="A15">Clinical Genetics, Guy’s and St. Thomas’ NHS Foundation Trust, London, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Clinical Genetics, Guy’s and St. Thomas’ NHS Foundation Trust, London</wicri:regionArea>
<placeName>
<settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Grand Londres</region>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Davidson, Rosemarie" sort="Davidson, Rosemarie" uniqKey="Davidson R" first="Rosemarie" last="Davidson">Rosemarie Davidson</name>
<affiliation wicri:level="1">
<nlm:aff id="A16">Ferguson-Smith Centre for Clinical Genetics, Yorkhill Hospitals, Glasgow, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Ferguson-Smith Centre for Clinical Genetics, Yorkhill Hospitals, Glasgow</wicri:regionArea>
<wicri:noRegion>Glasgow</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Chu, Carol" sort="Chu, Carol" uniqKey="Chu C" first="Carol" last="Chu">Carol Chu</name>
<affiliation wicri:level="1">
<nlm:aff id="A17">Yorkshire Regional Genetics Service, Leeds, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Yorkshire Regional Genetics Service, Leeds</wicri:regionArea>
<wicri:noRegion>Leeds</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Eccles, Diana" sort="Eccles, Diana" uniqKey="Eccles D" first="Diana" last="Eccles">Diana Eccles</name>
<affiliation wicri:level="1">
<nlm:aff id="A18">Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton</wicri:regionArea>
<wicri:noRegion>Southampton</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Selkirk, Christina G" sort="Selkirk, Christina G" uniqKey="Selkirk C" first="Christina G." last="Selkirk">Christina G. Selkirk</name>
<affiliation wicri:level="2">
<nlm:aff id="A19">Northshore University Health System, Evanston, IL, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Northshore University Health System, Evanston, IL</wicri:regionArea>
<placeName>
<region type="state">Illinois</region>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Daly, Mary" sort="Daly, Mary" uniqKey="Daly M" first="Mary" last="Daly">Mary Daly</name>
<affiliation wicri:level="2">
<nlm:aff id="A20">Fox Chase Cancer Center, Philadelphia, PA, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Fox Chase Cancer Center, Philadelphia, PA</wicri:regionArea>
<placeName>
<region type="state">Pennsylvanie</region>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Isaacs, Claudine" sort="Isaacs, Claudine" uniqKey="Isaacs C" first="Claudine" last="Isaacs">Claudine Isaacs</name>
<affiliation wicri:level="2">
<nlm:aff id="A21">Lombardi Cancer Center, Georgetown University, Washington, DC, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Lombardi Cancer Center, Georgetown University, Washington, DC</wicri:regionArea>
<placeName>
<region type="state">District de Columbia</region>
</placeName>
</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>
<affiliation wicri:level="4">
<nlm:aff id="A22">INSERM U509, Service de Génétique Oncologique, Institut Curie, Université Paris-Descartes, Paris, France</nlm:aff>
<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>
</author>
<author>
<name sortKey="Sinilnikova, Olga M" sort="Sinilnikova, Olga M" uniqKey="Sinilnikova O" first="Olga M." last="Sinilnikova">Olga M. Sinilnikova</name>
<affiliation wicri:level="3">
<nlm:aff id="A23">Unité Mixte de Génétique Constitutionnelle des Cancers Fréquents, Centre Hospitalier Universitaire de Lyon / Centre Léon Bérard, Lyon, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Unité Mixte de Génétique Constitutionnelle des Cancers Fréquents, Centre Hospitalier Universitaire de Lyon / Centre Léon Bérard, Lyon</wicri:regionArea>
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<region type="region">Auvergne-Rhône-Alpes</region>
<region type="old region">Rhône-Alpes</region>
<settlement type="city">Lyon</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3">
<nlm:aff id="A24">Equipe labellisée LIGUE 2008, UMR5201 CNRS, Centre Léon Bérard, Université de Lyon, Lyon, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Equipe labellisée LIGUE 2008, UMR5201 CNRS, Centre Léon Bérard, Université de Lyon, Lyon</wicri:regionArea>
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<region type="region">Auvergne-Rhône-Alpes</region>
<region type="old region">Rhône-Alpes</region>
<settlement type="city">Lyon</settlement>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Buecher, Bruno" sort="Buecher, Bruno" uniqKey="Buecher B" first="Bruno" last="Buecher">Bruno Buecher</name>
<affiliation wicri:level="4">
<nlm:aff id="A22">INSERM U509, Service de Génétique Oncologique, Institut Curie, Université Paris-Descartes, Paris, France</nlm:aff>
<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>
</author>
<author>
<name sortKey="Belotti, Muriel" sort="Belotti, Muriel" uniqKey="Belotti M" first="Muriel" last="Belotti">Muriel Belotti</name>
<affiliation wicri:level="4">
<nlm:aff id="A22">INSERM U509, Service de Génétique Oncologique, Institut Curie, Université Paris-Descartes, Paris, France</nlm:aff>
<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>
</author>
<author>
<name sortKey="Mazoyer, Sylvie" sort="Mazoyer, Sylvie" uniqKey="Mazoyer S" first="Sylvie" last="Mazoyer">Sylvie Mazoyer</name>
<affiliation wicri:level="3">
<nlm:aff id="A24">Equipe labellisée LIGUE 2008, UMR5201 CNRS, Centre Léon Bérard, Université de Lyon, Lyon, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Equipe labellisée LIGUE 2008, UMR5201 CNRS, Centre Léon Bérard, Université de Lyon, Lyon</wicri:regionArea>
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<region type="region">Auvergne-Rhône-Alpes</region>
<region type="old region">Rhône-Alpes</region>
<settlement type="city">Lyon</settlement>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Barjhoux, Laure" sort="Barjhoux, Laure" uniqKey="Barjhoux L" first="Laure" last="Barjhoux">Laure Barjhoux</name>
<affiliation wicri:level="3">
<nlm:aff id="A23">Unité Mixte de Génétique Constitutionnelle des Cancers Fréquents, Centre Hospitalier Universitaire de Lyon / Centre Léon Bérard, Lyon, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Unité Mixte de Génétique Constitutionnelle des Cancers Fréquents, Centre Hospitalier Universitaire de Lyon / Centre Léon Bérard, Lyon</wicri:regionArea>
<placeName>
<region type="region">Auvergne-Rhône-Alpes</region>
<region type="old region">Rhône-Alpes</region>
<settlement type="city">Lyon</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3">
<nlm:aff id="A24">Equipe labellisée LIGUE 2008, UMR5201 CNRS, Centre Léon Bérard, Université de Lyon, Lyon, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Equipe labellisée LIGUE 2008, UMR5201 CNRS, Centre Léon Bérard, Université de Lyon, Lyon</wicri:regionArea>
<placeName>
<region type="region">Auvergne-Rhône-Alpes</region>
<region type="old region">Rhône-Alpes</region>
<settlement type="city">Lyon</settlement>
</placeName>
</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>
<affiliation wicri:level="3">
<nlm:aff id="A23">Unité Mixte de Génétique Constitutionnelle des Cancers Fréquents, Centre Hospitalier Universitaire de Lyon / Centre Léon Bérard, Lyon, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Unité Mixte de Génétique Constitutionnelle des Cancers Fréquents, Centre Hospitalier Universitaire de Lyon / Centre Léon Bérard, Lyon</wicri:regionArea>
<placeName>
<region type="region">Auvergne-Rhône-Alpes</region>
<region type="old region">Rhône-Alpes</region>
<settlement type="city">Lyon</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3">
<nlm:aff id="A24">Equipe labellisée LIGUE 2008, UMR5201 CNRS, Centre Léon Bérard, Université de Lyon, Lyon, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Equipe labellisée LIGUE 2008, UMR5201 CNRS, Centre Léon Bérard, Université de Lyon, Lyon</wicri:regionArea>
<placeName>
<region type="region">Auvergne-Rhône-Alpes</region>
<region type="old region">Rhône-Alpes</region>
<settlement type="city">Lyon</settlement>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Lasset, Christine" sort="Lasset, Christine" uniqKey="Lasset C" first="Christine" last="Lasset">Christine Lasset</name>
<affiliation wicri:level="3">
<nlm:aff id="A25">CNRS UMR5558, Université Lyon 1, and Unité de Prévention et d’Epidémiologie Génétique, Centre Léon Bérard, Lyon, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>CNRS UMR5558, Université Lyon 1, and Unité de Prévention et d’Epidémiologie Génétique, Centre Léon Bérard, Lyon</wicri:regionArea>
<placeName>
<region type="region">Auvergne-Rhône-Alpes</region>
<region type="old region">Rhône-Alpes</region>
<settlement type="city">Lyon</settlement>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Dreyfus, Helene" sort="Dreyfus, Helene" uniqKey="Dreyfus H" first="Hélène" last="Dreyfus">Hélène Dreyfus</name>
<affiliation wicri:level="3">
<nlm:aff id="A26">Department of Genetics, Centre Hospitalier Universitaire de Grenoble, and Institut Albert Bonniot, Université de Grenoble, Grenoble, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Department of Genetics, Centre Hospitalier Universitaire de Grenoble, and Institut Albert Bonniot, Université de Grenoble, Grenoble</wicri:regionArea>
<placeName>
<region type="region">Auvergne-Rhône-Alpes</region>
<region type="old region">Rhône-Alpes</region>
<settlement type="city">Grenoble</settlement>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Pujol, Pascal" sort="Pujol, Pascal" uniqKey="Pujol P" first="Pascal" last="Pujol">Pascal Pujol</name>
<affiliation wicri:level="3">
<nlm:aff id="A27">Unité d’Oncogénétique, Centre Hospitalier Universitaire Arnaud de Villeneuve, and INSERM 896, CRCM Val d’Aurelle, Montpellier, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Unité d’Oncogénétique, Centre Hospitalier Universitaire Arnaud de Villeneuve, and INSERM 896, CRCM Val d’Aurelle, Montpellier</wicri:regionArea>
<placeName>
<region type="region">Occitanie (région administrative)</region>
<region type="old region">Languedoc-Roussillon</region>
<settlement type="city">Montpellier</settlement>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Collonge Rame, Marie Agnes" sort="Collonge Rame, Marie Agnes" uniqKey="Collonge Rame M" first="Marie-Agnès" last="Collonge-Rame">Marie-Agnès Collonge-Rame</name>
<affiliation wicri:level="3">
<nlm:aff id="A28">Service de Génétique-Histologie-Biologie du Développement et de la Reproduction, Centre Hospitalier Universitaire de Besançon, Besançon, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Service de Génétique-Histologie-Biologie du Développement et de la Reproduction, Centre Hospitalier Universitaire de Besançon, Besançon</wicri:regionArea>
<placeName>
<region type="region">Bourgogne-Franche-Comté</region>
<region type="old region">Franche-Comté</region>
<settlement type="city">Besançon</settlement>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Rookus, Matti A" sort="Rookus, Matti A" uniqKey="Rookus M" first="Matti A." last="Rookus">Matti A. Rookus</name>
<affiliation wicri:level="3">
<nlm:aff id="A30">Netherlands Cancer Institute, Amsterdam, Netherlands</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Netherlands Cancer Institute, Amsterdam</wicri:regionArea>
<placeName>
<settlement type="city">Amsterdam</settlement>
<region nuts="2" type="province">Hollande-Septentrionale</region>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Verhoef, Senno" sort="Verhoef, Senno" uniqKey="Verhoef S" first="Senno" last="Verhoef">Senno Verhoef</name>
<affiliation wicri:level="3">
<nlm:aff id="A30">Netherlands Cancer Institute, Amsterdam, Netherlands</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Netherlands Cancer Institute, Amsterdam</wicri:regionArea>
<placeName>
<settlement type="city">Amsterdam</settlement>
<region nuts="2" type="province">Hollande-Septentrionale</region>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Kriege, Mieke" sort="Kriege, Mieke" uniqKey="Kriege M" first="Mieke" last="Kriege">Mieke Kriege</name>
<affiliation wicri:level="3">
<nlm:aff id="A31">Erasmus Medical Center, Rotterdam, Netherlands</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Erasmus Medical Center, Rotterdam</wicri:regionArea>
<placeName>
<settlement type="city">Rotterdam</settlement>
<region nuts="2" type="province">Hollande-Méridionale</region>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Hoogerbrugge, Nicoline" sort="Hoogerbrugge, Nicoline" uniqKey="Hoogerbrugge N" first="Nicoline" last="Hoogerbrugge">Nicoline Hoogerbrugge</name>
<affiliation wicri:level="3">
<nlm:aff id="A32">Radboud University Nijmegen Medical Center, Nijmegen, Netherlands</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Radboud University Nijmegen Medical Center, Nijmegen</wicri:regionArea>
<placeName>
<settlement type="city">Nimègue</settlement>
<region type="province" nuts="2">Gueldre</region>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Ausems, Margreet G E M" sort="Ausems, Margreet G E M" uniqKey="Ausems M" first="Margreet G. E. M." last="Ausems">Margreet G. E. M. Ausems</name>
<affiliation wicri:level="3">
<nlm:aff id="A33">University Medical Center Utrecht, Utrecht, Netherlands</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>University Medical Center Utrecht, Utrecht</wicri:regionArea>
<placeName>
<settlement type="city">Utrecht</settlement>
<region nuts="2" type="province">Utrecht (province)</region>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Van Os, Theo A" sort="Van Os, Theo A" uniqKey="Van Os T" first="Theo A." last="Van Os">Theo A. Van Os</name>
<affiliation wicri:level="1">
<nlm:aff id="A34">Amsterdam Medical Center, Netherlands</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Amsterdam Medical Center</wicri:regionArea>
</affiliation>
</author>
<author>
<name sortKey="Wijnen, Juul" sort="Wijnen, Juul" uniqKey="Wijnen J" first="Juul" last="Wijnen">Juul Wijnen</name>
<affiliation wicri:level="3">
<nlm:aff id="A35">Leiden University Medical Center, Leiden, Netherlands</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Leiden University Medical Center, Leiden</wicri:regionArea>
<placeName>
<settlement type="city">Leyde</settlement>
<region nuts="2" type="province">Hollande-Méridionale</region>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Devilee, Peter" sort="Devilee, Peter" uniqKey="Devilee P" first="Peter" last="Devilee">Peter Devilee</name>
<affiliation wicri:level="3">
<nlm:aff id="A35">Leiden University Medical Center, Leiden, Netherlands</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Leiden University Medical Center, Leiden</wicri:regionArea>
<placeName>
<settlement type="city">Leyde</settlement>
<region nuts="2" type="province">Hollande-Méridionale</region>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Meijers Heijboer, Hanne E J" sort="Meijers Heijboer, Hanne E J" uniqKey="Meijers Heijboer H" first="Hanne E. J." last="Meijers-Heijboer">Hanne E. J. Meijers-Heijboer</name>
<affiliation wicri:level="3">
<nlm:aff id="A36">VU University Medical Center, Amsterdam, Netherlands</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>VU University Medical Center, Amsterdam</wicri:regionArea>
<placeName>
<settlement type="city">Amsterdam</settlement>
<region nuts="2" type="province">Hollande-Septentrionale</region>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Blok, Marinus J" sort="Blok, Marinus J" uniqKey="Blok M" first="Marinus J." last="Blok">Marinus J. Blok</name>
<affiliation wicri:level="1">
<nlm:aff id="A37">University Hospital Maastricht, Maastricht, Netherlands</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>University Hospital Maastricht, Maastricht</wicri:regionArea>
<wicri:noRegion>Maastricht</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Heikkinen, Tuomas" sort="Heikkinen, Tuomas" uniqKey="Heikkinen T" first="Tuomas" last="Heikkinen">Tuomas Heikkinen</name>
<affiliation wicri:level="1">
<nlm:aff id="A38">Department of Obstetrics and Gynegology, Helsinki University Central Hospital, Helsinki, Finland</nlm:aff>
<country xml:lang="fr">Finlande</country>
<wicri:regionArea>Department of Obstetrics and Gynegology, Helsinki University Central Hospital, Helsinki</wicri:regionArea>
<wicri:noRegion>Helsinki</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Nevanlinna, Heli" sort="Nevanlinna, Heli" uniqKey="Nevanlinna H" first="Heli" last="Nevanlinna">Heli Nevanlinna</name>
<affiliation wicri:level="1">
<nlm:aff id="A38">Department of Obstetrics and Gynegology, Helsinki University Central Hospital, Helsinki, Finland</nlm:aff>
<country xml:lang="fr">Finlande</country>
<wicri:regionArea>Department of Obstetrics and Gynegology, Helsinki University Central Hospital, Helsinki</wicri:regionArea>
<wicri:noRegion>Helsinki</wicri:noRegion>
</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="A39">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="Lubi Ski, Jan" sort="Lubi Ski, Jan" uniqKey="Lubi Ski J" first="Jan" last="Lubi Ski">Jan Lubi Ski</name>
<affiliation wicri:level="1">
<nlm:aff id="A39">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="Huzarski, Tomasz" sort="Huzarski, Tomasz" uniqKey="Huzarski T" first="Tomasz" last="Huzarski">Tomasz Huzarski</name>
<affiliation wicri:level="1">
<nlm:aff id="A39">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="Byrski, Tomasz" sort="Byrski, Tomasz" uniqKey="Byrski T" first="Tomasz" last="Byrski">Tomasz Byrski</name>
<affiliation wicri:level="1">
<nlm:aff id="A39">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="Durocher, Francine" sort="Durocher, Francine" uniqKey="Durocher F" first="Francine" last="Durocher">Francine Durocher</name>
<affiliation wicri:level="1">
<nlm:aff id="A40">Centre Hospitalier Universitaire de Québec and Laval University, Quebec City, Canada</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Centre Hospitalier Universitaire de Québec and Laval University, Quebec City</wicri:regionArea>
<wicri:noRegion>Quebec City</wicri:noRegion>
</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="A41">Mayo Clinic, Rochester, MN, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Mayo Clinic, Rochester, MN</wicri:regionArea>
<placeName>
<region type="state">Minnesota</region>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Lindor, Noralane M" sort="Lindor, Noralane M" uniqKey="Lindor N" first="Noralane M." last="Lindor">Noralane M. Lindor</name>
<affiliation wicri:level="2">
<nlm:aff id="A41">Mayo Clinic, Rochester, MN, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Mayo Clinic, Rochester, MN</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="A41">Mayo Clinic, Rochester, MN, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Mayo Clinic, Rochester, MN</wicri:regionArea>
<placeName>
<region type="state">Minnesota</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="A42">Department of Clinical Genetics, Odense University Hospital, Denmark</nlm:aff>
<country xml:lang="fr">Danemark</country>
<wicri:regionArea>Department of Clinical Genetics, Odense University Hospital</wicri:regionArea>
<wicri:noRegion>Odense University Hospital</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Domchek, Susan" sort="Domchek, Susan" uniqKey="Domchek S" first="Susan" last="Domchek">Susan Domchek</name>
<affiliation wicri:level="2">
<nlm:aff id="A4">University of Pennsylvania School of Medicine, Philadelphia, PA, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>University of Pennsylvania School of Medicine, Philadelphia, PA</wicri:regionArea>
<placeName>
<region type="state">Pennsylvanie</region>
</placeName>
</affiliation>
<affiliation wicri:level="2">
<nlm:aff id="A5">Abramson Cancer Center, Philadelphia, PA, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Abramson Cancer Center, Philadelphia, PA</wicri:regionArea>
<placeName>
<region type="state">Pennsylvanie</region>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Nathanson, Kate" sort="Nathanson, Kate" uniqKey="Nathanson K" first="Kate" last="Nathanson">Kate Nathanson</name>
<affiliation wicri:level="2">
<nlm:aff id="A4">University of Pennsylvania School of Medicine, Philadelphia, PA, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>University of Pennsylvania School of Medicine, Philadelphia, PA</wicri:regionArea>
<placeName>
<region type="state">Pennsylvanie</region>
</placeName>
</affiliation>
<affiliation wicri:level="2">
<nlm:aff id="A5">Abramson Cancer Center, Philadelphia, PA, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Abramson Cancer Center, Philadelphia, PA</wicri:regionArea>
<placeName>
<region type="state">Pennsylvanie</region>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Caligo, Ma" sort="Caligo, Ma" uniqKey="Caligo M" first="Ma" last="Caligo">Ma Caligo</name>
<affiliation wicri:level="1">
<nlm:aff id="A43">University Hospital of Pisa, Italy</nlm:aff>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>University Hospital of Pisa</wicri:regionArea>
</affiliation>
</author>
<author>
<name sortKey="Jernstrom, Helena" sort="Jernstrom, Helena" uniqKey="Jernstrom H" first="Helena" last="Jernström">Helena Jernström</name>
<affiliation wicri:level="1">
<nlm:aff id="A44">Lund University Hospital, Lund, Sweden</nlm:aff>
<country xml:lang="fr">Suède</country>
<wicri:regionArea>Lund University Hospital, Lund</wicri:regionArea>
<wicri:noRegion>Lund</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Liljegren, Annelie" sort="Liljegren, Annelie" uniqKey="Liljegren A" first="Annelie" last="Liljegren">Annelie Liljegren</name>
<affiliation wicri:level="3">
<nlm:aff id="A45">Karolinska Institutet, Karolinska University Hospital,Stockholm, Sweden</nlm:aff>
<country xml:lang="fr">Suède</country>
<wicri:regionArea>Karolinska Institutet, Karolinska University Hospital,Stockholm</wicri:regionArea>
<placeName>
<settlement type="city">Stockholm</settlement>
<region nuts="2">Svealand</region>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Ehrencrona, Hans" sort="Ehrencrona, Hans" uniqKey="Ehrencrona H" first="Hans" last="Ehrencrona">Hans Ehrencrona</name>
<affiliation wicri:level="4">
<nlm:aff id="A46">Rudbeck Laboratory, Uppsala University, Sweden</nlm:aff>
<country xml:lang="fr">Suède</country>
<wicri:regionArea>Rudbeck Laboratory, Uppsala University</wicri:regionArea>
<placeName>
<settlement type="city">Uppsala</settlement>
<region nuts="1">Svealand</region>
<region nuts="1">East Middle Sweden</region>
</placeName>
<orgName type="university">Université d'Uppsala</orgName>
</affiliation>
</author>
<author>
<name sortKey="Karlsson, Per" sort="Karlsson, Per" uniqKey="Karlsson P" first="Per" last="Karlsson">Per Karlsson</name>
<affiliation wicri:level="1">
<nlm:aff id="A47">Sahlgrenska University Hospital, Gothenburg, Sweden</nlm:aff>
<country xml:lang="fr">Suède</country>
<wicri:regionArea>Sahlgrenska University Hospital, Gothenburg</wicri:regionArea>
<wicri:noRegion>Gothenburg</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Ganz, Patricia A" sort="Ganz, Patricia A" uniqKey="Ganz P" first="Patricia A." last="Ganz">Patricia A. Ganz</name>
<affiliation wicri:level="2">
<nlm:aff id="A48">UCLA Schools of Medicine and Public Health and Jonsson Comprehensive Cancer Center, Los Angeles, CA, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>UCLA Schools of Medicine and Public Health and Jonsson Comprehensive Cancer Center, Los Angeles, CA</wicri:regionArea>
<placeName>
<region type="state">Californie</region>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Olopade, Olufunmilayo I" sort="Olopade, Olufunmilayo I" uniqKey="Olopade O" first="Olufunmilayo I." last="Olopade">Olufunmilayo I. Olopade</name>
<affiliation wicri:level="2">
<nlm:aff id="A49">University of Chicago, Chicago, IL, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>University of Chicago, Chicago, IL</wicri:regionArea>
<placeName>
<region type="state">Illinois</region>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Tomlinson, Gail" sort="Tomlinson, Gail" uniqKey="Tomlinson G" first="Gail" last="Tomlinson">Gail Tomlinson</name>
<affiliation wicri:level="2">
<nlm:aff id="A50">University of Texas, Southwestern Medical Center, Dallas, TX, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>University of Texas, Southwestern Medical Center, Dallas, TX</wicri:regionArea>
<placeName>
<region type="state">Texas</region>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Neuhausen, Susan" sort="Neuhausen, Susan" uniqKey="Neuhausen S" first="Susan" last="Neuhausen">Susan Neuhausen</name>
<affiliation wicri:level="2">
<nlm:aff id="A9">City of Hope, Duarte, CA, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>City of Hope, Duarte, CA</wicri:regionArea>
<placeName>
<region type="state">Californie</region>
</placeName>
</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="A2">Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, UK.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Royaume-Uni</country>
<wicri:regionArea>Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge</wicri:regionArea>
<placeName>
<settlement type="city">Cambridge</settlement>
<region type="country">Angleterre</region>
<region type="région" nuts="1">Angleterre de l'Est</region>
</placeName>
<orgName type="university">Université de Cambridge</orgName>
</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="A1">Queensland Institute for Medical Research, Brisbane, Australia.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Australie</country>
<wicri:regionArea>Queensland Institute for 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="2">
<nlm:aff id="A4">University of Pennsylvania School of Medicine, Philadelphia, PA, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>University of Pennsylvania School of Medicine, Philadelphia, PA</wicri:regionArea>
<placeName>
<region type="state">Pennsylvanie</region>
</placeName>
</affiliation>
<affiliation wicri:level="2">
<nlm:aff id="A5">Abramson Cancer Center, Philadelphia, PA, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Abramson Cancer Center, Philadelphia, PA</wicri:regionArea>
<placeName>
<region type="state">Pennsylvanie</region>
</placeName>
</affiliation>
</author>
</analytic>
<series>
<title level="j">Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology</title>
<idno type="ISSN">1055-9965</idno>
<idno type="eISSN">1538-7755</idno>
<imprint>
<date when="2011">2011</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc>
<textClass></textClass>
</profileDesc>
</teiHeader>
<front>
<div type="abstract" xml:lang="en">
<sec id="S1">
<title>Background</title>
<p id="P1">Inherited
<italic>BRCA1</italic>
and
<italic>BRCA2 (BRCA1/2)</italic>
mutations confer elevated breast cancer risk. Knowledge of factors that can improve breast cancer risk assessment in
<italic>BRCA1</italic>
/
<italic>2</italic>
mutation carriers may improve personalized cancer prevention strategies.</p>
</sec>
<sec sec-type="methods" id="S2">
<title>Methods</title>
<p id="P2">A cohort of 5,546
<italic>BRCA1</italic>
and 2,865
<italic>BRCA2</italic>
mutation carriers was used to evaluate risk of breast cancer associated with
<italic>BARD1</italic>
Cys557Ser. In a second non-independent cohort of 1,537 of
<italic>BRCA1</italic>
and 839
<italic>BRCA2</italic>
mutation carriers,
<italic>BARD1</italic>
haplotypes were also evaluated.</p>
</sec>
<sec id="S3">
<title>Results</title>
<p id="P3">The
<italic>BARD1</italic>
Cys557Ser variant was not significantly associated with risk of breast cancer from single SNP analysis, with a pooled effect estimate of 0.90 (95%CI: 0.71-1.15) in
<italic>BRCA1</italic>
carriers and 0.87 (95%CI: 0.59-1.29) in
<italic>BRCA2</italic>
carriers. Further analysis of haplotypes at
<italic>BARD1</italic>
also revealed no evidence that additional common genetic variation not captured by Cys557Ser was associated with breast cancer risk.</p>
</sec>
<sec id="S4">
<title>Conclusion</title>
<p id="P4">Evidence to date does not support a role for
<italic>BARD1</italic>
variation, including the Cy557Ser variant, as a modifier of risk in
<italic>BRCA1/2</italic>
mutation carriers.</p>
</sec>
<sec id="S5">
<title>Impact</title>
<p id="P5">Interactors of BRCA1/2 have been implicated as modifiers of
<italic>BRCA1/2</italic>
-associated cancer risk. Our finding that
<italic>BARD1</italic>
does not contribute to this risk modification may focus research on other genes that do modify
<italic>BRCA1/2</italic>
-associated cancer risk.</p>
</sec>
</div>
</front>
</TEI>
<affiliations>
<list>
<country>
<li>Australie</li>
<li>Autriche</li>
<li>Canada</li>
<li>Danemark</li>
<li>Finlande</li>
<li>France</li>
<li>Italie</li>
<li>Pays-Bas</li>
<li>Pologne</li>
<li>Royaume-Uni</li>
<li>Suède</li>
<li>États-Unis</li>
</country>
<region>
<li>Angleterre</li>
<li>Angleterre de l'Est</li>
<li>Auvergne-Rhône-Alpes</li>
<li>Bourgogne-Franche-Comté</li>
<li>Californie</li>
<li>District de Columbia</li>
<li>East Middle Sweden</li>
<li>Franche-Comté</li>
<li>Grand Londres</li>
<li>Grand Manchester</li>
<li>Gueldre</li>
<li>Hollande-Méridionale</li>
<li>Hollande-Septentrionale</li>
<li>Illinois</li>
<li>Languedoc-Roussillon</li>
<li>Massachusetts</li>
<li>Minnesota</li>
<li>Nebraska</li>
<li>Occitanie (région administrative)</li>
<li>Pennsylvanie</li>
<li>Rhône-Alpes</li>
<li>Svealand</li>
<li>Texas</li>
<li>Utrecht (province)</li>
<li>Île-de-France</li>
</region>
<settlement>
<li>Amsterdam</li>
<li>Besançon</li>
<li>Cambridge</li>
<li>Grenoble</li>
<li>Leyde</li>
<li>Londres</li>
<li>Lyon</li>
<li>Manchester</li>
<li>Montpellier</li>
<li>Nimègue</li>
<li>Paris</li>
<li>Rotterdam</li>
<li>Stockholm</li>
<li>Uppsala</li>
<li>Utrecht</li>
</settlement>
<orgName>
<li>Université Paris-Descartes</li>
<li>Université d'Uppsala</li>
<li>Université de Cambridge</li>
</orgName>
</list>
<tree>
<country name="Australie">
<noRegion>
<name sortKey="Spurdle, Amanda B" sort="Spurdle, Amanda B" uniqKey="Spurdle A" first="Amanda B." last="Spurdle">Amanda B. Spurdle</name>
</noRegion>
<name sortKey="Beesley, Jonathan" sort="Beesley, Jonathan" uniqKey="Beesley J" first="Jonathan" last="Beesley">Jonathan Beesley</name>
<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="Marquart, Louise" sort="Marquart, Louise" uniqKey="Marquart L" first="Louise" last="Marquart">Louise Marquart</name>
</country>
<country name="Royaume-Uni">
<region name="Angleterre">
<name sortKey="Mcguffog, Lesley" sort="Mcguffog, Lesley" uniqKey="Mcguffog L" first="Lesley" last="Mcguffog">Lesley Mcguffog</name>
</region>
<name sortKey="Antoniou, Antonis C" sort="Antoniou, Antonis C" uniqKey="Antoniou A" first="Antonis C." last="Antoniou">Antonis C. Antoniou</name>
<name sortKey="Chu, Carol" sort="Chu, Carol" uniqKey="Chu C" first="Carol" last="Chu">Carol Chu</name>
<name sortKey="Conroy, Don" sort="Conroy, Don" uniqKey="Conroy D" first="Don" last="Conroy">Don Conroy</name>
<name sortKey="Cook, Margaret" sort="Cook, Margaret" uniqKey="Cook M" first="Margaret" last="Cook">Margaret Cook</name>
<name sortKey="Davidson, Rosemarie" sort="Davidson, Rosemarie" uniqKey="Davidson R" first="Rosemarie" last="Davidson">Rosemarie Davidson</name>
<name sortKey="Easton, Douglas F" sort="Easton, Douglas F" uniqKey="Easton D" first="Douglas F." last="Easton">Douglas F. Easton</name>
<name sortKey="Eccles, Diana" sort="Eccles, Diana" uniqKey="Eccles D" first="Diana" last="Eccles">Diana Eccles</name>
<name sortKey="Eeles, Ros" sort="Eeles, Ros" uniqKey="Eeles R" first="Ros" last="Eeles">Ros Eeles</name>
<name sortKey="Evans, D Gareth" sort="Evans, D Gareth" uniqKey="Evans D" first="D. Gareth" last="Evans">D. Gareth Evans</name>
<name sortKey="Frost, Debra" sort="Frost, Debra" uniqKey="Frost D" first="Debra" last="Frost">Debra Frost</name>
<name sortKey="Izatt, Louise" sort="Izatt, Louise" uniqKey="Izatt L" first="Louise" last="Izatt">Louise Izatt</name>
<name sortKey="Lalloo, Fiona" sort="Lalloo, Fiona" uniqKey="Lalloo F" first="Fiona" last="Lalloo">Fiona Lalloo</name>
<name sortKey="Oliver, Clare T" sort="Oliver, Clare T" uniqKey="Oliver C" first="Clare T." last="Oliver">Clare T. Oliver</name>
<name sortKey="Peock, Susan" sort="Peock, Susan" uniqKey="Peock S" first="Susan" last="Peock">Susan Peock</name>
</country>
<country name="France">
<region name="Auvergne-Rhône-Alpes">
<name sortKey="Sinilnikova, Olga" sort="Sinilnikova, Olga" uniqKey="Sinilnikova O" first="Olga" last="Sinilnikova">Olga Sinilnikova</name>
</region>
<name sortKey="Barjhoux, Laure" sort="Barjhoux, Laure" uniqKey="Barjhoux L" first="Laure" last="Barjhoux">Laure Barjhoux</name>
<name sortKey="Barjhoux, Laure" sort="Barjhoux, Laure" uniqKey="Barjhoux L" first="Laure" last="Barjhoux">Laure Barjhoux</name>
<name sortKey="Belotti, Muriel" sort="Belotti, Muriel" uniqKey="Belotti M" first="Muriel" last="Belotti">Muriel Belotti</name>
<name sortKey="Buecher, Bruno" sort="Buecher, Bruno" uniqKey="Buecher B" first="Bruno" last="Buecher">Bruno Buecher</name>
<name sortKey="Collonge Rame, Marie Agnes" sort="Collonge Rame, Marie Agnes" uniqKey="Collonge Rame M" first="Marie-Agnès" last="Collonge-Rame">Marie-Agnès Collonge-Rame</name>
<name sortKey="Dreyfus, Helene" sort="Dreyfus, Helene" uniqKey="Dreyfus H" first="Hélène" last="Dreyfus">Hélène Dreyfus</name>
<name sortKey="Lasset, Christine" sort="Lasset, Christine" uniqKey="Lasset C" first="Christine" last="Lasset">Christine Lasset</name>
<name sortKey="Mazoyer, Sylvie" sort="Mazoyer, Sylvie" uniqKey="Mazoyer S" first="Sylvie" last="Mazoyer">Sylvie Mazoyer</name>
<name sortKey="Pujol, Pascal" sort="Pujol, Pascal" uniqKey="Pujol P" first="Pascal" last="Pujol">Pascal Pujol</name>
<name sortKey="Sinilnikova, Olga M" sort="Sinilnikova, Olga M" uniqKey="Sinilnikova O" first="Olga M." last="Sinilnikova">Olga M. Sinilnikova</name>
<name sortKey="Sinilnikova, Olga M" sort="Sinilnikova, Olga M" uniqKey="Sinilnikova O" first="Olga M." last="Sinilnikova">Olga M. Sinilnikova</name>
<name sortKey="Stoppa Lyonnet, Dominique" sort="Stoppa Lyonnet, Dominique" uniqKey="Stoppa Lyonnet D" first="Dominique" last="Stoppa-Lyonnet">Dominique Stoppa-Lyonnet</name>
<name sortKey="Verny Pierre, Carole" sort="Verny Pierre, Carole" uniqKey="Verny Pierre C" first="Carole" last="Verny-Pierre">Carole Verny-Pierre</name>
<name sortKey="Verny Pierre, Carole" sort="Verny Pierre, Carole" uniqKey="Verny Pierre C" first="Carole" last="Verny-Pierre">Carole Verny-Pierre</name>
</country>
<country name="États-Unis">
<region name="Pennsylvanie">
<name sortKey="Wan, Fei" sort="Wan, Fei" uniqKey="Wan F" first="Fei" last="Wan">Fei Wan</name>
</region>
<name sortKey="Blum, Joanne L" sort="Blum, Joanne L" uniqKey="Blum J" first="Joanne L." last="Blum">Joanne L. Blum</name>
<name sortKey="Couch, Fergus J" sort="Couch, Fergus J" uniqKey="Couch F" first="Fergus J." last="Couch">Fergus J. Couch</name>
<name sortKey="Daly, Mary" sort="Daly, Mary" uniqKey="Daly M" first="Mary" last="Daly">Mary Daly</name>
<name sortKey="Domchek, Susan" sort="Domchek, Susan" uniqKey="Domchek S" first="Susan" last="Domchek">Susan Domchek</name>
<name sortKey="Domchek, Susan" sort="Domchek, Susan" uniqKey="Domchek S" first="Susan" last="Domchek">Susan Domchek</name>
<name sortKey="Ganz, Patricia A" sort="Ganz, Patricia A" uniqKey="Ganz P" first="Patricia A." last="Ganz">Patricia A. Ganz</name>
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