Combined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms
Identifieur interne : 002208 ( Main/Exploration ); précédent : 002207; suivant : 002209Combined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms
Auteurs : Miguel De La Hoya [Espagne] ; Omar Soukarieh [France] ; Irene L Pez-Perolio [Espagne] ; Ana Vega [Espagne] ; Logan C. Walker [Nouvelle-Zélande] ; Yvette Van Ierland [Pays-Bas] ; Diana Baralle [Royaume-Uni] ; Marta Santamari A [Espagne] ; Vanessa Lattimore [Nouvelle-Zélande] ; Juul Wijnen [Pays-Bas] ; Philip Whiley [Australie] ; Ana Blanco [Espagne] ; Michela Raponi [Royaume-Uni] ; Jan Hauke [Allemagne] ; Barbara Wappenschmidt [Allemagne] ; Alexandra Becker [Allemagne] ; Thomas V. O. Hansen [Danemark] ; Raquel Behar [Espagne] ; Kconfab Investigators [Australie] ; Diether Niederacher [Allemagne] ; Norbert Arnold [Allemagne] ; Bernd Dworniczak [Allemagne] ; Doris Steinemann [Allemagne] ; Ulrike Faust [Allemagne] ; Wendy Rubinstein [États-Unis] ; Peter J. Hulick [États-Unis] ; Claude Houdayer [France] ; Sandrine M. Caputo [France] ; Laurent Castera [France] ; Tina Pesaran [États-Unis] ; Elizabeth Chao [États-Unis] ; Carole Brewer [Royaume-Uni] ; Melissa C. Southey [Australie] ; Christi J. Van Asperen [Pays-Bas] ; Christian F. Singer [Autriche] ; Jan Sullivan [Nouvelle-Zélande] ; Nicola Poplawski [Australie] ; Phuong Mai [États-Unis] ; Julian Peto [Royaume-Uni] ; Nichola Johnson [Royaume-Uni] ; Barbara Burwinkel [Allemagne] ; Harald Surowy [Allemagne] ; Stig E. Bojesen [Danemark] ; Henrik Flyger [Danemark] ; Annika Lindblom [Suède] ; Sara Margolin [Suède] ; Jenny Chang-Claude [Allemagne] ; Anja Rudolph [Allemagne] ; Paolo Radice [Italie] ; Laura Galastri [Italie] ; Janet E. Olson [États-Unis] ; Emily Hallberg [États-Unis] ; Graham G. Giles [Australie] ; Roger L. Milne [Australie] ; Irene L. Andrulis [Canada] ; Gord Glendon [Canada] ; Per Hall [Suède] ; Kamila Czene [Suède] ; Fiona Blows [Royaume-Uni] ; Mitul Shah [Royaume-Uni] ; Qin Wang [Royaume-Uni] ; Joe Dennis [Royaume-Uni] ; Kyriaki Michailidou [Royaume-Uni, Chypre (pays)] ; Lesley Mcguffog [Royaume-Uni] ; Manjeet K. Bolla [Royaume-Uni] ; Antonis C. Antoniou [Royaume-Uni] ; Douglas F. Easton [Royaume-Uni] ; Fergus J. Couch [États-Unis] ; Sean Tavtigian ; Maaike P. Vreeswijk [Pays-Bas] ; Michael Parsons [Australie] ; Huong D. Meeks ; Alexandra Martins [France] ; David E. Goldgar [États-Unis] ; Amanda B. Spurdle [Australie]Source :
- Human Molecular Genetics [ 0964-6906 ] ; 2016.
Descripteurs français
- KwdFr :
- Adulte, Adulte d'âge moyen, Analyse de mutations d'ADN, Exons (génétique), Femelle, Humains, Mutation (génétique), Protéine BRCA1 (génétique), Protéines suppresseurs de tumeurs (génétique), Régulation de l'expression des gènes tumoraux, Sites d'épissage d'ARN (génétique), Sujet âgé, Tumeurs de l'ovaire (anatomopathologie), Tumeurs de l'ovaire (génétique), Tumeurs du sein (anatomopathologie), Tumeurs du sein (génétique), Épissage alternatif (génétique), Épissage des ARN (génétique).
- MESH :
- anatomopathologie : Tumeurs de l'ovaire, Tumeurs du sein.
- génétique : Exons, Mutation, Protéine BRCA1, Protéines suppresseurs de tumeurs, Sites d'épissage d'ARN, Tumeurs de l'ovaire, Tumeurs du sein, Épissage alternatif, Épissage des ARN.
- Adulte, Adulte d'âge moyen, Analyse de mutations d'ADN, Femelle, Humains, Régulation de l'expression des gènes tumoraux, Sujet âgé.
English descriptors
- KwdEn :
- Adult, Aged, Alternative Splicing (genetics), BRCA1 Protein (genetics), Breast Neoplasms (genetics), Breast Neoplasms (pathology), DNA Mutational Analysis, Exons (genetics), Female, Gene Expression Regulation, Neoplastic, Humans, Middle Aged, Mutation (genetics), Ovarian Neoplasms (genetics), Ovarian Neoplasms (pathology), RNA Splice Sites (genetics), RNA Splicing (genetics), Tumor Suppressor Proteins (genetics).
- MESH :
- chemical , genetics : BRCA1 Protein, RNA Splice Sites, Tumor Suppressor Proteins.
- genetics : Alternative Splicing, Breast Neoplasms, Exons, Mutation, Ovarian Neoplasms, RNA Splicing.
- pathology : Breast Neoplasms, Ovarian Neoplasms.
- Adult, Aged, DNA Mutational Analysis, Female, Gene Expression Regulation, Neoplastic, Humans, Middle Aged.
Abstract
A recent analysis using family history weighting and co-observation classification modeling indicated that
We confirm that
Url:
DOI: 10.1093/hmg/ddw094
PubMed: 27008870
PubMed Central: 5081057
Affiliations:
- Allemagne, Australie, Autriche, Canada, Chypre (pays), Danemark, Espagne, France, Italie, Nouvelle-Zélande, Pays-Bas, Royaume-Uni, Suède, États-Unis
- Angleterre, Angleterre de l'Est, Bade-Wurtemberg, Basse-Saxe, Californie, Communauté de Madrid, District de Cologne, District de Düsseldorf, District de Karlsruhe, District de Münster, Galice, Hambourg, Haute-Normandie, Hollande-Méridionale, Hovedstaden, Illinois, Maryland, Minnesota, Ontario, Rhénanie-du-Nord-Westphalie, Région Normandie, Schleswig-Holstein, Utah, Victoria (État), Île-de-France
- Cambridge, Cologne, Copenhague, Düsseldorf, Hambourg, Hanovre, Heidelberg, Kiel, Leyde, Madrid, Melbourne, Münster, Rouen, Santiago de Compostela, Toronto
- Université de Cambridge, Université de Melbourne, Université de Saint-Jacques-de-Compostelle, Université de Toronto
Links toward previous steps (curation, corpus...)
- to stream Pmc, to step Corpus: 001877
- to stream Pmc, to step Curation: 001736
- to stream Pmc, to step Checkpoint: 000A66
- to stream PubMed, to step Corpus: 001C80
- to stream PubMed, to step Curation: 001C56
- to stream PubMed, to step Checkpoint: 001C56
- to stream Ncbi, to step Merge: 003317
- to stream Ncbi, to step Curation: 003317
- to stream Ncbi, to step Checkpoint: 003317
- to stream Main, to step Merge: 002207
- to stream Main, to step Curation: 002208
Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Combined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms</title>
<author><name sortKey="De La Hoya, Miguel" sort="De La Hoya, Miguel" uniqKey="De La Hoya M" first="Miguel" last="De La Hoya">Miguel De La Hoya</name>
<affiliation wicri:level="3"><nlm:aff id="ddw094-aff1">Molecular Oncology Laboratory, Instituto de Investigacion Sanitaria San Carlos (IdISSC), Hospital Clinico San Carlos, Madrid, Spain</nlm:aff>
<country xml:lang="fr">Espagne</country>
<wicri:regionArea>Molecular Oncology Laboratory, Instituto de Investigacion Sanitaria San Carlos (IdISSC), Hospital Clinico San Carlos, Madrid</wicri:regionArea>
<placeName><settlement type="city">Madrid</settlement>
<region nuts="2" type="region">Communauté de Madrid</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Soukarieh, Omar" sort="Soukarieh, Omar" uniqKey="Soukarieh O" first="Omar" last="Soukarieh">Omar Soukarieh</name>
<affiliation wicri:level="3"><nlm:aff id="ddw094-aff2">Inserm U1079-IRIB, University of Rouen, Normandy Centre for Genomic and Personalized Medicine, Rouen, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Inserm U1079-IRIB, University of Rouen, Normandy Centre for Genomic and Personalized Medicine, Rouen</wicri:regionArea>
<placeName><region type="region">Région Normandie</region>
<region type="old region">Haute-Normandie</region>
<settlement type="city">Rouen</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="L Pez Perolio, Irene" sort="L Pez Perolio, Irene" uniqKey="L Pez Perolio I" first="Irene" last="L Pez-Perolio">Irene L Pez-Perolio</name>
<affiliation wicri:level="3"><nlm:aff id="ddw094-aff1">Molecular Oncology Laboratory, Instituto de Investigacion Sanitaria San Carlos (IdISSC), Hospital Clinico San Carlos, Madrid, Spain</nlm:aff>
<country xml:lang="fr">Espagne</country>
<wicri:regionArea>Molecular Oncology Laboratory, Instituto de Investigacion Sanitaria San Carlos (IdISSC), Hospital Clinico San Carlos, Madrid</wicri:regionArea>
<placeName><settlement type="city">Madrid</settlement>
<region nuts="2" type="region">Communauté de Madrid</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Vega, Ana" sort="Vega, Ana" uniqKey="Vega A" first="Ana" last="Vega">Ana Vega</name>
<affiliation wicri:level="1"><nlm:aff id="ddw094-aff3">Fundacion Publica Galega de Medicina Xenómica-SERGAS Grupo de Medicina Xenómica-USC, IDIS, CIBERER, Santiago de Compostela 15706, Spain</nlm:aff>
<country xml:lang="fr">Espagne</country>
<wicri:regionArea>Fundacion Publica Galega de Medicina Xenómica-SERGAS Grupo de Medicina Xenómica-USC, IDIS, CIBERER, Santiago de Compostela 15706</wicri:regionArea>
<wicri:noRegion>Santiago de Compostela 15706</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Walker, Logan C" sort="Walker, Logan C" uniqKey="Walker L" first="Logan C." last="Walker">Logan C. Walker</name>
<affiliation wicri:level="1"><nlm:aff id="ddw094-aff4">Department of Pathology, University of Otago, Christchurch 8140, New Zealand</nlm:aff>
<country xml:lang="fr">Nouvelle-Zélande</country>
<wicri:regionArea>Department of Pathology, University of Otago, Christchurch 8140</wicri:regionArea>
<wicri:noRegion>Christchurch 8140</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Van Ierland, Yvette" sort="Van Ierland, Yvette" uniqKey="Van Ierland Y" first="Yvette" last="Van Ierland">Yvette Van Ierland</name>
<affiliation wicri:level="1"><nlm:aff id="ddw094-aff5">Department of Clinical Genetics, Leiden University Medical Centre, Leiden 2300, The Netherlands</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Department of Clinical Genetics, Leiden University Medical Centre, Leiden 2300</wicri:regionArea>
<placeName><settlement type="city">Leyde</settlement>
<region nuts="2" type="province">Hollande-Méridionale</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Baralle, Diana" sort="Baralle, Diana" uniqKey="Baralle D" first="Diana" last="Baralle">Diana Baralle</name>
<affiliation wicri:level="1"><nlm:aff id="ddw094-aff6">Human Development and Health, Faculty of Medicine, University of Southampton, Southampton S016 5YA, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Human Development and Health, Faculty of Medicine, University of Southampton, Southampton S016 5YA</wicri:regionArea>
<wicri:noRegion>Southampton S016 5YA</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Santamari A, Marta" sort="Santamari A, Marta" uniqKey="Santamari A M" first="Marta" last="Santamari A">Marta Santamari A</name>
<affiliation wicri:level="4"><nlm:aff id="ddw094-aff7">CIBERER, Grupo de Medicina Xenómica-USC, Universidade de Santiago de Compostela, Fundacion Galega de Medicina Xenómica (SERGAS), Santiago de Compostela 15706, Spain</nlm:aff>
<country xml:lang="fr">Espagne</country>
<wicri:regionArea>CIBERER, Grupo de Medicina Xenómica-USC, Universidade de Santiago de Compostela, Fundacion Galega de Medicina Xenómica (SERGAS), Santiago de Compostela 15706</wicri:regionArea>
<orgName type="university">Université de Saint-Jacques-de-Compostelle</orgName>
<placeName><settlement type="city">Santiago de Compostela</settlement>
<region nuts="2" type="region">Galice</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Lattimore, Vanessa" sort="Lattimore, Vanessa" uniqKey="Lattimore V" first="Vanessa" last="Lattimore">Vanessa Lattimore</name>
<affiliation wicri:level="1"><nlm:aff id="ddw094-aff4">Department of Pathology, University of Otago, Christchurch 8140, New Zealand</nlm:aff>
<country xml:lang="fr">Nouvelle-Zélande</country>
<wicri:regionArea>Department of Pathology, University of Otago, Christchurch 8140</wicri:regionArea>
<wicri:noRegion>Christchurch 8140</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Wijnen, Juul" sort="Wijnen, Juul" uniqKey="Wijnen J" first="Juul" last="Wijnen">Juul Wijnen</name>
<affiliation wicri:level="1"><nlm:aff id="ddw094-aff5">Department of Clinical Genetics, Leiden University Medical Centre, Leiden 2300, The Netherlands</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Department of Clinical Genetics, Leiden University Medical Centre, Leiden 2300</wicri:regionArea>
<placeName><settlement type="city">Leyde</settlement>
<region nuts="2" type="province">Hollande-Méridionale</region>
</placeName>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="ddw094-aff8">Department of Clinical Genetics, Leiden University Medical Centre, Leiden 2300, The Netherlands</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Department of Clinical Genetics, Leiden University Medical Centre, Leiden 2300</wicri:regionArea>
<placeName><settlement type="city">Leyde</settlement>
<region nuts="2" type="province">Hollande-Méridionale</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Whiley, Philip" sort="Whiley, Philip" uniqKey="Whiley P" first="Philip" last="Whiley">Philip Whiley</name>
<affiliation wicri:level="1"><nlm:aff id="ddw094-aff9">Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, QLD 4006, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, QLD 4006</wicri:regionArea>
<wicri:noRegion>QLD 4006</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Blanco, Ana" sort="Blanco, Ana" uniqKey="Blanco A" first="Ana" last="Blanco">Ana Blanco</name>
<affiliation wicri:level="1"><nlm:aff id="ddw094-aff3">Fundacion Publica Galega de Medicina Xenómica-SERGAS Grupo de Medicina Xenómica-USC, IDIS, CIBERER, Santiago de Compostela 15706, Spain</nlm:aff>
<country xml:lang="fr">Espagne</country>
<wicri:regionArea>Fundacion Publica Galega de Medicina Xenómica-SERGAS Grupo de Medicina Xenómica-USC, IDIS, CIBERER, Santiago de Compostela 15706</wicri:regionArea>
<wicri:noRegion>Santiago de Compostela 15706</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Raponi, Michela" sort="Raponi, Michela" uniqKey="Raponi M" first="Michela" last="Raponi">Michela Raponi</name>
<affiliation wicri:level="1"><nlm:aff id="ddw094-aff6">Human Development and Health, Faculty of Medicine, University of Southampton, Southampton S016 5YA, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Human Development and Health, Faculty of Medicine, University of Southampton, Southampton S016 5YA</wicri:regionArea>
<wicri:noRegion>Southampton S016 5YA</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Hauke, Jan" sort="Hauke, Jan" uniqKey="Hauke J" first="Jan" last="Hauke">Jan Hauke</name>
<affiliation wicri:level="3"><nlm:aff id="ddw094-aff10">Center for Hereditary Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), Medical Faculty, University Hosptial Cologne, Cologne 50931, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Center for Hereditary Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), Medical Faculty, University Hosptial Cologne, Cologne 50931</wicri:regionArea>
<placeName><region type="land" nuts="1">Rhénanie-du-Nord-Westphalie</region>
<region type="district" nuts="2">District de Cologne</region>
<settlement type="city">Cologne</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Wappenschmidt, Barbara" sort="Wappenschmidt, Barbara" uniqKey="Wappenschmidt B" first="Barbara" last="Wappenschmidt">Barbara Wappenschmidt</name>
<affiliation wicri:level="3"><nlm:aff id="ddw094-aff10">Center for Hereditary Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), Medical Faculty, University Hosptial Cologne, Cologne 50931, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Center for Hereditary Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), Medical Faculty, University Hosptial Cologne, Cologne 50931</wicri:regionArea>
<placeName><region type="land" nuts="1">Rhénanie-du-Nord-Westphalie</region>
<region type="district" nuts="2">District de Cologne</region>
<settlement type="city">Cologne</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Becker, Alexandra" sort="Becker, Alexandra" uniqKey="Becker A" first="Alexandra" last="Becker">Alexandra Becker</name>
<affiliation wicri:level="3"><nlm:aff id="ddw094-aff10">Center for Hereditary Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), Medical Faculty, University Hosptial Cologne, Cologne 50931, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Center for Hereditary Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), Medical Faculty, University Hosptial Cologne, Cologne 50931</wicri:regionArea>
<placeName><region type="land" nuts="1">Rhénanie-du-Nord-Westphalie</region>
<region type="district" nuts="2">District de Cologne</region>
<settlement type="city">Cologne</settlement>
</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>
<affiliation wicri:level="1"><nlm:aff id="ddw094-aff11">Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital, Copenhagen DK-2100, Denmark</nlm:aff>
<country xml:lang="fr">Danemark</country>
<wicri:regionArea>Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital, Copenhagen DK-2100</wicri:regionArea>
<placeName><settlement type="city">Copenhague</settlement>
<region type="région" nuts="2">Hovedstaden</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Behar, Raquel" sort="Behar, Raquel" uniqKey="Behar R" first="Raquel" last="Behar">Raquel Behar</name>
<affiliation wicri:level="3"><nlm:aff id="ddw094-aff1">Molecular Oncology Laboratory, Instituto de Investigacion Sanitaria San Carlos (IdISSC), Hospital Clinico San Carlos, Madrid, Spain</nlm:aff>
<country xml:lang="fr">Espagne</country>
<wicri:regionArea>Molecular Oncology Laboratory, Instituto de Investigacion Sanitaria San Carlos (IdISSC), Hospital Clinico San Carlos, Madrid</wicri:regionArea>
<placeName><settlement type="city">Madrid</settlement>
<region nuts="2" type="region">Communauté de Madrid</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Investigators, Kconfab" sort="Investigators, Kconfab" uniqKey="Investigators K" first="Kconfab" last="Investigators">Kconfab Investigators</name>
<affiliation wicri:level="4"><nlm:aff id="ddw094-aff12">Peter MacCallum Cancer Center, University of Melbourne, Melbourne, VIC 3002, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Peter MacCallum Cancer Center, University of Melbourne, Melbourne, VIC 3002</wicri:regionArea>
<orgName type="university">Université de Melbourne</orgName>
<placeName><settlement type="city">Melbourne</settlement>
<region type="état">Victoria (État)</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Niederacher, Diether" sort="Niederacher, Diether" uniqKey="Niederacher D" first="Diether" last="Niederacher">Diether Niederacher</name>
<affiliation wicri:level="3"><nlm:aff id="ddw094-aff13">Department of Gynaecology and Obstetrics, University Hospital Düsseldorf, Heinrich-Heine University Düsseldorf, Düsseldorf 40225, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of Gynaecology and Obstetrics, University Hospital Düsseldorf, Heinrich-Heine University Düsseldorf, Düsseldorf 40225</wicri:regionArea>
<placeName><region type="land" nuts="1">Rhénanie-du-Nord-Westphalie</region>
<region type="district" nuts="2">District de Düsseldorf</region>
<settlement type="city">Düsseldorf</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Arnold, Norbert" sort="Arnold, Norbert" uniqKey="Arnold N" first="Norbert" last="Arnold">Norbert Arnold</name>
<affiliation wicri:level="3"><nlm:aff id="ddw094-aff14">Department of Gynaecology and Obstetrics, University Hospital of Schleswig-Holstein, Campus Kiel, Christian-Albrechts University Kiel, Kiel 24105, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of Gynaecology and Obstetrics, University Hospital of Schleswig-Holstein, Campus Kiel, Christian-Albrechts University Kiel, Kiel 24105</wicri:regionArea>
<placeName><region type="land" nuts="2">Schleswig-Holstein</region>
<settlement type="city">Kiel</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Dworniczak, Bernd" sort="Dworniczak, Bernd" uniqKey="Dworniczak B" first="Bernd" last="Dworniczak">Bernd Dworniczak</name>
<affiliation wicri:level="3"><nlm:aff id="ddw094-aff15">Institute of Human Genetics, University of Münster, Münster 48149, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Institute of Human Genetics, University of Münster, Münster 48149</wicri:regionArea>
<placeName><region type="land" nuts="1">Rhénanie-du-Nord-Westphalie</region>
<region type="district" nuts="2">District de Münster</region>
<settlement type="city">Münster</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Steinemann, Doris" sort="Steinemann, Doris" uniqKey="Steinemann D" first="Doris" last="Steinemann">Doris Steinemann</name>
<affiliation wicri:level="3"><nlm:aff id="ddw094-aff16">Institute of Human Genetics, Hannover Medical School, Hannover 30625, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Institute of Human Genetics, Hannover Medical School, Hannover 30625</wicri:regionArea>
<placeName><region type="land" nuts="2">Basse-Saxe</region>
<settlement type="city">Hanovre</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Faust, Ulrike" sort="Faust, Ulrike" uniqKey="Faust U" first="Ulrike" last="Faust">Ulrike Faust</name>
<affiliation wicri:level="1"><nlm:aff id="ddw094-aff17">Institute of Medical Genetics and Applied Genomics, University Hospital Tuebingen, Tuebingen 72076, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Institute of Medical Genetics and Applied Genomics, University Hospital Tuebingen, Tuebingen 72076</wicri:regionArea>
<wicri:noRegion>72076</wicri:noRegion>
<wicri:noRegion>72076</wicri:noRegion>
<wicri:noRegion>Tuebingen 72076</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Rubinstein, Wendy" sort="Rubinstein, Wendy" uniqKey="Rubinstein W" first="Wendy" last="Rubinstein">Wendy Rubinstein</name>
<affiliation wicri:level="2"><nlm:aff id="ddw094-aff18">National Institutes of Health, Bethesda, MD 20892-2152, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>National Institutes of Health, Bethesda, MD 20892-2152</wicri:regionArea>
<placeName><region type="state">Maryland</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Hulick, Peter J" sort="Hulick, Peter J" uniqKey="Hulick P" first="Peter J." last="Hulick">Peter J. Hulick</name>
<affiliation wicri:level="2"><nlm:aff id="ddw094-aff19">Center for Medical Genetics, NorthShore University Health System, University of Chicago Pritzker School of Medicine, Evanston, IL 60201, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Center for Medical Genetics, NorthShore University Health System, University of Chicago Pritzker School of Medicine, Evanston, IL 60201</wicri:regionArea>
<placeName><region type="state">Illinois</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Houdayer, Claude" sort="Houdayer, Claude" uniqKey="Houdayer C" first="Claude" last="Houdayer">Claude Houdayer</name>
<affiliation wicri:level="3"><nlm:aff id="ddw094-aff20">Service de Génétique, Department de Biologie des Tumeurs, Institut Curie and INSERM U830, Centre de Recherche de l'Institut Curie, Paris, and Universite Paris Descartes, Sorbonne Paris Cite, Paris 75248, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Service de Génétique, Department de Biologie des Tumeurs, Institut Curie and INSERM U830, Centre de Recherche de l'Institut Curie, Paris, and Universite Paris Descartes, Sorbonne Paris Cite, Paris 75248</wicri:regionArea>
<placeName><region type="region" nuts="2">Île-de-France</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Caputo, Sandrine M" sort="Caputo, Sandrine M" uniqKey="Caputo S" first="Sandrine M." last="Caputo">Sandrine M. Caputo</name>
<affiliation wicri:level="3"><nlm:aff id="ddw094-aff21">Service de Génétique, Department de Biologie des Tumeurs, Institut Curie, Paris 75248, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Service de Génétique, Department de Biologie des Tumeurs, Institut Curie, Paris 75248</wicri:regionArea>
<placeName><region type="region" nuts="2">Île-de-France</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Castera, Laurent" sort="Castera, Laurent" uniqKey="Castera L" first="Laurent" last="Castera">Laurent Castera</name>
<affiliation wicri:level="3"><nlm:aff id="ddw094-aff22">Centre Francois Baclesse, Laboratoire de Biologie et de Genetique du Cancer, 14076 Caen, Paris 75248, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Centre Francois Baclesse, Laboratoire de Biologie et de Genetique du Cancer, 14076 Caen, Paris 75248</wicri:regionArea>
<placeName><region type="region" nuts="2">Île-de-France</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Pesaran, Tina" sort="Pesaran, Tina" uniqKey="Pesaran T" first="Tina" last="Pesaran">Tina Pesaran</name>
<affiliation wicri:level="2"><nlm:aff id="ddw094-aff23">Ambry Genetics, Aliso Viejo, CA 92656, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Ambry Genetics, Aliso Viejo, CA 92656</wicri:regionArea>
<placeName><region type="state">Californie</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Chao, Elizabeth" sort="Chao, Elizabeth" uniqKey="Chao E" first="Elizabeth" last="Chao">Elizabeth Chao</name>
<affiliation wicri:level="2"><nlm:aff id="ddw094-aff23">Ambry Genetics, Aliso Viejo, CA 92656, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Ambry Genetics, Aliso Viejo, CA 92656</wicri:regionArea>
<placeName><region type="state">Californie</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Brewer, Carole" sort="Brewer, Carole" uniqKey="Brewer C" first="Carole" last="Brewer">Carole Brewer</name>
<affiliation wicri:level="1"><nlm:aff id="ddw094-aff24">Department of Clinical Genetics, Royal Devon and Exeter Hospital, Exeter, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Department of Clinical Genetics, Royal Devon and Exeter Hospital, Exeter</wicri:regionArea>
<wicri:noRegion>Exeter</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Southey, Melissa C" sort="Southey, Melissa C" uniqKey="Southey M" first="Melissa C." last="Southey">Melissa C. Southey</name>
<affiliation wicri:level="4"><nlm:aff id="ddw094-aff25">Genetic Epidemiology Laboratory, Department of Pathology, The University of Melbourne, Melbourne, VIC 3010, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Genetic Epidemiology Laboratory, Department of Pathology, The University of Melbourne, Melbourne, VIC 3010</wicri:regionArea>
<orgName type="university">Université de Melbourne</orgName>
<placeName><settlement type="city">Melbourne</settlement>
<region type="état">Victoria (État)</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Van Asperen, Christi J" sort="Van Asperen, Christi J" uniqKey="Van Asperen C" first="Christi J." last="Van Asperen">Christi J. Van Asperen</name>
<affiliation wicri:level="1"><nlm:aff id="ddw094-aff5">Department of Clinical Genetics, Leiden University Medical Centre, Leiden 2300, The Netherlands</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Department of Clinical Genetics, Leiden University Medical Centre, Leiden 2300</wicri:regionArea>
<placeName><settlement type="city">Leyde</settlement>
<region nuts="2" type="province">Hollande-Méridionale</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="1"><nlm:aff id="ddw094-aff26">Department of Obstetrics and Gynaecology, Medical University of Vienna, Vienna, Austria, Waehringer Guertel 18-20, A 1090 Vienna, Austria</nlm:aff>
<country xml:lang="fr">Autriche</country>
<wicri:regionArea>Department of Obstetrics and Gynaecology, Medical University of Vienna, Vienna, Austria, Waehringer Guertel 18-20, A 1090 Vienna</wicri:regionArea>
<wicri:noRegion>A 1090 Vienna</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Sullivan, Jan" sort="Sullivan, Jan" uniqKey="Sullivan J" first="Jan" last="Sullivan">Jan Sullivan</name>
<affiliation wicri:level="1"><nlm:aff id="ddw094-aff27">Genetic Health Service NZ, South Island Hub, Christchurch Hospital, Christchurch 8140, New Zealand</nlm:aff>
<country xml:lang="fr">Nouvelle-Zélande</country>
<wicri:regionArea>Genetic Health Service NZ, South Island Hub, Christchurch Hospital, Christchurch 8140</wicri:regionArea>
<wicri:noRegion>Christchurch 8140</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Poplawski, Nicola" sort="Poplawski, Nicola" uniqKey="Poplawski N" first="Nicola" last="Poplawski">Nicola Poplawski</name>
<affiliation wicri:level="1"><nlm:aff id="ddw094-aff28">Adult Genetics Unit, South Australian Clinical Genetics Service, SA Pathology at the Women’s and Children’s Hospital, North Adelaide, SA 5067, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Adult Genetics Unit, South Australian Clinical Genetics Service, SA Pathology at the Women’s and Children’s Hospital, North Adelaide, SA 5067</wicri:regionArea>
<wicri:noRegion>SA 5067</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="ddw094-aff29">University Department of Paediatrics, University of Adelaide, North Terrace, Adelaide, SA 5000, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>University Department of Paediatrics, University of Adelaide, North Terrace, Adelaide, SA 5000</wicri:regionArea>
<wicri:noRegion>SA 5000</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Mai, Phuong" sort="Mai, Phuong" uniqKey="Mai P" first="Phuong" last="Mai">Phuong Mai</name>
<affiliation wicri:level="2"><nlm:aff id="ddw094-aff30">Clinical Genetics Branch, DCEG, NCI, NIH, Bethesda, MD, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Clinical Genetics Branch, DCEG, NCI, NIH, Bethesda, MD</wicri:regionArea>
<placeName><region type="state">Maryland</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Peto, Julian" sort="Peto, Julian" uniqKey="Peto J" first="Julian" last="Peto">Julian Peto</name>
<affiliation wicri:level="1"><nlm:aff id="ddw094-aff31">London School of Hygiene and Tropical Medicine, London WC1E 7HT, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>London School of Hygiene and Tropical Medicine, London WC1E 7HT</wicri:regionArea>
<wicri:noRegion>London WC1E 7HT</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Johnson, Nichola" sort="Johnson, Nichola" uniqKey="Johnson N" first="Nichola" last="Johnson">Nichola Johnson</name>
<affiliation wicri:level="1"><nlm:aff id="ddw094-aff32">Breakthrough Breast Cancer Research Centre, Institute of Cancer Research, London SW3 6JB, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Breakthrough Breast Cancer Research Centre, Institute of Cancer Research, London SW3 6JB</wicri:regionArea>
<wicri:noRegion>London SW3 6JB</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="ddw094-aff33">Division of Breast Cancer Research, Institute of Cancer Research, London SW3 6JB, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Division of Breast Cancer Research, Institute of Cancer Research, London SW3 6JB</wicri:regionArea>
<wicri:noRegion>London SW3 6JB</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Burwinkel, Barbara" sort="Burwinkel, Barbara" uniqKey="Burwinkel B" first="Barbara" last="Burwinkel">Barbara Burwinkel</name>
<affiliation wicri:level="3"><nlm:aff id="ddw094-aff34">Molecular Biology of Breast Cancer, Department of Gynecology and Obstetrics, University of Heidelberg, Heidelberg 69120, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Molecular Biology of Breast Cancer, Department of Gynecology and Obstetrics, University of Heidelberg, Heidelberg 69120</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>
<affiliation wicri:level="3"><nlm:aff id="ddw094-aff35">Molecular Epidemiology Group, German Cancer Research Center, DKFZ, Heidelberg 69120, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Molecular Epidemiology Group, German Cancer Research Center, DKFZ, Heidelberg 69120</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="Surowy, Harald" sort="Surowy, Harald" uniqKey="Surowy H" first="Harald" last="Surowy">Harald Surowy</name>
<affiliation wicri:level="3"><nlm:aff id="ddw094-aff34">Molecular Biology of Breast Cancer, Department of Gynecology and Obstetrics, University of Heidelberg, Heidelberg 69120, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Molecular Biology of Breast Cancer, Department of Gynecology and Obstetrics, University of Heidelberg, Heidelberg 69120</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>
<affiliation wicri:level="3"><nlm:aff id="ddw094-aff35">Molecular Epidemiology Group, German Cancer Research Center, DKFZ, Heidelberg 69120, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Molecular Epidemiology Group, German Cancer Research Center, DKFZ, Heidelberg 69120</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="Bojesen, Stig E" sort="Bojesen, Stig E" uniqKey="Bojesen S" first="Stig E." last="Bojesen">Stig E. Bojesen</name>
<affiliation wicri:level="1"><nlm:aff id="ddw094-aff36">Copenhagen General Population Study, Herlev and Gentofte Hospital, Copenhagen 2730, Denmark</nlm:aff>
<country xml:lang="fr">Danemark</country>
<wicri:regionArea>Copenhagen General Population Study, Herlev and Gentofte Hospital, Copenhagen 2730</wicri:regionArea>
<placeName><settlement type="city">Copenhague</settlement>
<region type="région" nuts="2">Hovedstaden</region>
</placeName>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="ddw094-aff37">Department of Clinical Biochemistry, Herlev Hospital, Copenhagen University Hospital, Herlev 2730, Denmark</nlm:aff>
<country xml:lang="fr">Danemark</country>
<wicri:regionArea>Department of Clinical Biochemistry, Herlev Hospital, Copenhagen University Hospital, Herlev 2730</wicri:regionArea>
<wicri:noRegion>Herlev 2730</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="ddw094-aff38">Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen 1165, Denmark</nlm:aff>
<country xml:lang="fr">Danemark</country>
<wicri:regionArea>Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen 1165</wicri:regionArea>
<placeName><settlement type="city">Copenhague</settlement>
<region type="région" nuts="2">Hovedstaden</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Flyger, Henrik" sort="Flyger, Henrik" uniqKey="Flyger H" first="Henrik" last="Flyger">Henrik Flyger</name>
<affiliation wicri:level="1"><nlm:aff id="ddw094-aff39">Department of Breast Surgery, Herlev and Gentofte Hospital, Copenhagen University Hospital, 2730 Denmark</nlm:aff>
<country xml:lang="fr">Danemark</country>
<wicri:regionArea>Department of Breast Surgery, Herlev and Gentofte Hospital, Copenhagen University Hospital</wicri:regionArea>
<wicri:noRegion>Copenhagen University Hospital</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Lindblom, Annika" sort="Lindblom, Annika" uniqKey="Lindblom A" first="Annika" last="Lindblom">Annika Lindblom</name>
<affiliation wicri:level="1"><nlm:aff id="ddw094-aff40">Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm SE-171 77, Sweden</nlm:aff>
<country xml:lang="fr">Suède</country>
<wicri:regionArea>Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm SE-171 77</wicri:regionArea>
<wicri:noRegion>Stockholm SE-171 77</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Margolin, Sara" sort="Margolin, Sara" uniqKey="Margolin S" first="Sara" last="Margolin">Sara Margolin</name>
<affiliation wicri:level="1"><nlm:aff id="ddw094-aff41">Department of Oncology Pathology, Karolinska Institutet, Stockholm SE-171 77, Sweden</nlm:aff>
<country xml:lang="fr">Suède</country>
<wicri:regionArea>Department of Oncology Pathology, Karolinska Institutet, Stockholm SE-171 77</wicri:regionArea>
<wicri:noRegion>Stockholm SE-171 77</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Chang Claude, Jenny" sort="Chang Claude, Jenny" uniqKey="Chang Claude J" first="Jenny" last="Chang-Claude">Jenny Chang-Claude</name>
<affiliation wicri:level="3"><nlm:aff id="ddw094-aff42">Division of Cancer Epidemiology, German Cancer Research Center (DKFZ), Heidelberg 69120, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Division of Cancer Epidemiology, German Cancer Research Center (DKFZ), Heidelberg 69120</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>
<affiliation wicri:level="1"><nlm:aff id="ddw094-aff43">University Cancer Center Hamburg (UCCH), University Medical Center Hamburg-Eppendorf, Hamburg 20246, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>University Cancer Center Hamburg (UCCH), University Medical Center Hamburg-Eppendorf, Hamburg 20246</wicri:regionArea>
<wicri:noRegion>20246</wicri:noRegion>
<placeName><settlement type="city">Hambourg</settlement>
<region type="land" nuts="2">Hambourg</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Rudolph, Anja" sort="Rudolph, Anja" uniqKey="Rudolph A" first="Anja" last="Rudolph">Anja Rudolph</name>
<affiliation wicri:level="3"><nlm:aff id="ddw094-aff42">Division of Cancer Epidemiology, German Cancer Research Center (DKFZ), Heidelberg 69120, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Division of Cancer Epidemiology, German Cancer Research Center (DKFZ), Heidelberg 69120</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="Radice, Paolo" sort="Radice, Paolo" uniqKey="Radice P" first="Paolo" last="Radice">Paolo Radice</name>
<affiliation wicri:level="1"><nlm:aff id="ddw094-aff44">Unit of “Molecular bases of genetic risk and genetic testing”, Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale dei Tumori, Milano 20139, Italy</nlm:aff>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Unit of “Molecular bases of genetic risk and genetic testing”, Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale dei Tumori, Milano 20139</wicri:regionArea>
<wicri:noRegion>Milano 20139</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Galastri, Laura" sort="Galastri, Laura" uniqKey="Galastri L" first="Laura" last="Galastri">Laura Galastri</name>
<affiliation wicri:level="1"><nlm:aff id="ddw094-aff45">Associazione Volontari Italiani Sangue (AVIS) comunale di Milano, Milano 20139, Italy</nlm:aff>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Associazione Volontari Italiani Sangue (AVIS) comunale di Milano, Milano 20139</wicri:regionArea>
<wicri:noRegion>Milano 20139</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Olson, Janet E" sort="Olson, Janet E" uniqKey="Olson J" first="Janet E." last="Olson">Janet E. Olson</name>
<affiliation wicri:level="2"><nlm:aff id="ddw094-aff46">Department of Health Sciences Research, Mayo Clinic, Rochester, MN 55905, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Health Sciences Research, Mayo Clinic, Rochester, MN 55905</wicri:regionArea>
<placeName><region type="state">Minnesota</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Hallberg, Emily" sort="Hallberg, Emily" uniqKey="Hallberg E" first="Emily" last="Hallberg">Emily Hallberg</name>
<affiliation wicri:level="2"><nlm:aff id="ddw094-aff46">Department of Health Sciences Research, Mayo Clinic, Rochester, MN 55905, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Health Sciences Research, Mayo Clinic, Rochester, MN 55905</wicri:regionArea>
<placeName><region type="state">Minnesota</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Giles, Graham G" sort="Giles, Graham G" uniqKey="Giles G" first="Graham G." last="Giles">Graham G. Giles</name>
<affiliation wicri:level="4"><nlm:aff id="ddw094-aff47">Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, University of Melbourne, VIC 3010, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, University of Melbourne, VIC 3010</wicri:regionArea>
<orgName type="university">Université de Melbourne</orgName>
<placeName><settlement type="city">Melbourne</settlement>
<region type="état">Victoria (État)</region>
</placeName>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="ddw094-aff48">Cancer Epidemiology Centre, Cancer Council Victoria, Melbourne, VIC 3004, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Cancer Epidemiology Centre, Cancer Council Victoria, Melbourne, VIC 3004</wicri:regionArea>
<wicri:noRegion>VIC 3004</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Milne, Roger L" sort="Milne, Roger L" uniqKey="Milne R" first="Roger L." last="Milne">Roger L. Milne</name>
<affiliation wicri:level="4"><nlm:aff id="ddw094-aff47">Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, University of Melbourne, VIC 3010, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, University of Melbourne, VIC 3010</wicri:regionArea>
<orgName type="university">Université de Melbourne</orgName>
<placeName><settlement type="city">Melbourne</settlement>
<region type="état">Victoria (État)</region>
</placeName>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="ddw094-aff48">Cancer Epidemiology Centre, Cancer Council Victoria, Melbourne, VIC 3004, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Cancer Epidemiology Centre, Cancer Council Victoria, Melbourne, VIC 3004</wicri:regionArea>
<wicri:noRegion>VIC 3004</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Andrulis, Irene L" sort="Andrulis, Irene L" uniqKey="Andrulis I" first="Irene L." last="Andrulis">Irene L. Andrulis</name>
<affiliation wicri:level="1"><nlm:aff id="ddw094-aff49">Lunenfeld-Tanenbaum Research Institute, Mount Sinai Hospital, Toronto, ON M5G 1X5, Canada</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Lunenfeld-Tanenbaum Research Institute, Mount Sinai Hospital, Toronto, ON M5G 1X5</wicri:regionArea>
<wicri:noRegion>ON M5G 1X5</wicri:noRegion>
</affiliation>
<affiliation wicri:level="4"><nlm:aff id="ddw094-aff50">Department of Molecular Genetics, University of Toronto, M5B 1W8, Canada</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Department of Molecular Genetics, University of Toronto, M5B 1W8</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="Glendon, Gord" sort="Glendon, Gord" uniqKey="Glendon G" first="Gord" last="Glendon">Gord Glendon</name>
<affiliation wicri:level="1"><nlm:aff id="ddw094-aff49">Lunenfeld-Tanenbaum Research Institute, Mount Sinai Hospital, Toronto, ON M5G 1X5, Canada</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Lunenfeld-Tanenbaum Research Institute, Mount Sinai Hospital, Toronto, ON M5G 1X5</wicri:regionArea>
<wicri:noRegion>ON M5G 1X5</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Hall, Per" sort="Hall, Per" uniqKey="Hall P" first="Per" last="Hall">Per Hall</name>
<affiliation wicri:level="1"><nlm:aff id="ddw094-aff51">Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm SE-171 77, Sweden</nlm:aff>
<country xml:lang="fr">Suède</country>
<wicri:regionArea>Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm SE-171 77</wicri:regionArea>
<wicri:noRegion>Stockholm SE-171 77</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Czene, Kamila" sort="Czene, Kamila" uniqKey="Czene K" first="Kamila" last="Czene">Kamila Czene</name>
<affiliation wicri:level="1"><nlm:aff id="ddw094-aff51">Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm SE-171 77, Sweden</nlm:aff>
<country xml:lang="fr">Suède</country>
<wicri:regionArea>Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm SE-171 77</wicri:regionArea>
<wicri:noRegion>Stockholm SE-171 77</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Blows, Fiona" sort="Blows, Fiona" uniqKey="Blows F" first="Fiona" last="Blows">Fiona Blows</name>
<affiliation wicri:level="4"><nlm:aff id="ddw094-aff52">Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge CB1 8RN, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge CB1 8RN</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="Shah, Mitul" sort="Shah, Mitul" uniqKey="Shah M" first="Mitul" last="Shah">Mitul Shah</name>
<affiliation wicri:level="4"><nlm:aff id="ddw094-aff52">Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge CB1 8RN, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge CB1 8RN</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="Wang, Qin" sort="Wang, Qin" uniqKey="Wang Q" first="Qin" last="Wang">Qin Wang</name>
<affiliation wicri:level="4"><nlm:aff id="ddw094-aff53">Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge CB1 8RN, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge CB1 8RN</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="Dennis, Joe" sort="Dennis, Joe" uniqKey="Dennis J" first="Joe" last="Dennis">Joe Dennis</name>
<affiliation wicri:level="4"><nlm:aff id="ddw094-aff53">Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge CB1 8RN, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge CB1 8RN</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="Michailidou, Kyriaki" sort="Michailidou, Kyriaki" uniqKey="Michailidou K" first="Kyriaki" last="Michailidou">Kyriaki Michailidou</name>
<affiliation wicri:level="4"><nlm:aff id="ddw094-aff53">Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge CB1 8RN, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge CB1 8RN</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>
<affiliation wicri:level="1"><nlm:aff id="ddw094-aff54">Department of Electron Microscopy/Molecular Pathology, The Cyprus Institute of Neurology and Genetics, 1683, Nicosia, Cyprus</nlm:aff>
<country xml:lang="fr">Chypre (pays)</country>
<wicri:regionArea>Department of Electron Microscopy/Molecular Pathology, The Cyprus Institute of Neurology and Genetics, 1683, Nicosia</wicri:regionArea>
<wicri:noRegion>Nicosia</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Mcguffog, Lesley" sort="Mcguffog, Lesley" uniqKey="Mcguffog L" first="Lesley" last="Mcguffog">Lesley Mcguffog</name>
<affiliation wicri:level="4"><nlm:aff id="ddw094-aff53">Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge CB1 8RN, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge CB1 8RN</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="Bolla, Manjeet K" sort="Bolla, Manjeet K" uniqKey="Bolla M" first="Manjeet K." last="Bolla">Manjeet K. Bolla</name>
<affiliation wicri:level="4"><nlm:aff id="ddw094-aff53">Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge CB1 8RN, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge CB1 8RN</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="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="ddw094-aff53">Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge CB1 8RN, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge CB1 8RN</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="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="ddw094-aff53">Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge CB1 8RN, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge CB1 8RN</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="ddw094-aff46">Department of Health Sciences Research, Mayo Clinic, Rochester, MN 55905, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Health Sciences Research, Mayo Clinic, Rochester, MN 55905</wicri:regionArea>
<placeName><region type="state">Minnesota</region>
</placeName>
</affiliation>
<affiliation wicri:level="2"><nlm:aff id="ddw094-aff55">Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905</wicri:regionArea>
<placeName><region type="state">Minnesota</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Tavtigian, Sean" sort="Tavtigian, Sean" uniqKey="Tavtigian S" first="Sean" last="Tavtigian">Sean Tavtigian</name>
<affiliation><nlm:aff id="ddw094-aff56">Department of Oncological Sciences</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Vreeswijk, Maaike P" sort="Vreeswijk, Maaike P" uniqKey="Vreeswijk M" first="Maaike P." last="Vreeswijk">Maaike P. Vreeswijk</name>
<affiliation wicri:level="1"><nlm:aff id="ddw094-aff5">Department of Clinical Genetics, Leiden University Medical Centre, Leiden 2300, The Netherlands</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Department of Clinical Genetics, Leiden University Medical Centre, Leiden 2300</wicri:regionArea>
<placeName><settlement type="city">Leyde</settlement>
<region nuts="2" type="province">Hollande-Méridionale</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Parsons, Michael" sort="Parsons, Michael" uniqKey="Parsons M" first="Michael" last="Parsons">Michael Parsons</name>
<affiliation wicri:level="1"><nlm:aff id="ddw094-aff9">Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, QLD 4006, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, QLD 4006</wicri:regionArea>
<wicri:noRegion>QLD 4006</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Meeks, Huong D" sort="Meeks, Huong D" uniqKey="Meeks H" first="Huong D." last="Meeks">Huong D. Meeks</name>
<affiliation><nlm:aff id="ddw094-aff56">Department of Oncological Sciences</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Martins, Alexandra" sort="Martins, Alexandra" uniqKey="Martins A" first="Alexandra" last="Martins">Alexandra Martins</name>
<affiliation wicri:level="3"><nlm:aff id="ddw094-aff2">Inserm U1079-IRIB, University of Rouen, Normandy Centre for Genomic and Personalized Medicine, Rouen, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Inserm U1079-IRIB, University of Rouen, Normandy Centre for Genomic and Personalized Medicine, Rouen</wicri:regionArea>
<placeName><region type="region">Région Normandie</region>
<region type="old region">Haute-Normandie</region>
<settlement type="city">Rouen</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Goldgar, David E" sort="Goldgar, David E" uniqKey="Goldgar D" first="David E." last="Goldgar">David E. Goldgar</name>
<affiliation wicri:level="2"><nlm:aff id="ddw094-aff57">Department of Dermatology, Huntsman Cancer Institute, University of Utah School of Medicine, Salt Lake City, UT 84132, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Dermatology, Huntsman Cancer Institute, University of Utah School of Medicine, Salt Lake City, UT 84132</wicri:regionArea>
<placeName><region type="state">Utah</region>
</placeName>
</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="ddw094-aff9">Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, QLD 4006, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, QLD 4006</wicri:regionArea>
<wicri:noRegion>QLD 4006</wicri:noRegion>
</affiliation>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">PMC</idno>
<idno type="pmid">27008870</idno>
<idno type="pmc">5081057</idno>
<idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5081057</idno>
<idno type="RBID">PMC:5081057</idno>
<idno type="doi">10.1093/hmg/ddw094</idno>
<date when="2016">2016</date>
<idno type="wicri:Area/Pmc/Corpus">001877</idno>
<idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">001877</idno>
<idno type="wicri:Area/Pmc/Curation">001736</idno>
<idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Curation">001736</idno>
<idno type="wicri:Area/Pmc/Checkpoint">000A66</idno>
<idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Checkpoint">000A66</idno>
<idno type="wicri:source">PubMed</idno>
<idno type="wicri:Area/PubMed/Corpus">001C80</idno>
<idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">001C80</idno>
<idno type="wicri:Area/PubMed/Curation">001C56</idno>
<idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">001C56</idno>
<idno type="wicri:Area/PubMed/Checkpoint">001C56</idno>
<idno type="wicri:explorRef" wicri:stream="Checkpoint" wicri:step="PubMed">001C56</idno>
<idno type="wicri:Area/Ncbi/Merge">003317</idno>
<idno type="wicri:Area/Ncbi/Curation">003317</idno>
<idno type="wicri:Area/Ncbi/Checkpoint">003317</idno>
<idno type="wicri:doubleKey">0964-6906:2016:De La Hoya M:combined:genetic:and</idno>
<idno type="wicri:Area/Main/Merge">002207</idno>
<idno type="wicri:Area/Main/Curation">002208</idno>
<idno type="wicri:Area/Main/Exploration">002208</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Combined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms</title>
<author><name sortKey="De La Hoya, Miguel" sort="De La Hoya, Miguel" uniqKey="De La Hoya M" first="Miguel" last="De La Hoya">Miguel De La Hoya</name>
<affiliation wicri:level="3"><nlm:aff id="ddw094-aff1">Molecular Oncology Laboratory, Instituto de Investigacion Sanitaria San Carlos (IdISSC), Hospital Clinico San Carlos, Madrid, Spain</nlm:aff>
<country xml:lang="fr">Espagne</country>
<wicri:regionArea>Molecular Oncology Laboratory, Instituto de Investigacion Sanitaria San Carlos (IdISSC), Hospital Clinico San Carlos, Madrid</wicri:regionArea>
<placeName><settlement type="city">Madrid</settlement>
<region nuts="2" type="region">Communauté de Madrid</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Soukarieh, Omar" sort="Soukarieh, Omar" uniqKey="Soukarieh O" first="Omar" last="Soukarieh">Omar Soukarieh</name>
<affiliation wicri:level="3"><nlm:aff id="ddw094-aff2">Inserm U1079-IRIB, University of Rouen, Normandy Centre for Genomic and Personalized Medicine, Rouen, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Inserm U1079-IRIB, University of Rouen, Normandy Centre for Genomic and Personalized Medicine, Rouen</wicri:regionArea>
<placeName><region type="region">Région Normandie</region>
<region type="old region">Haute-Normandie</region>
<settlement type="city">Rouen</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="L Pez Perolio, Irene" sort="L Pez Perolio, Irene" uniqKey="L Pez Perolio I" first="Irene" last="L Pez-Perolio">Irene L Pez-Perolio</name>
<affiliation wicri:level="3"><nlm:aff id="ddw094-aff1">Molecular Oncology Laboratory, Instituto de Investigacion Sanitaria San Carlos (IdISSC), Hospital Clinico San Carlos, Madrid, Spain</nlm:aff>
<country xml:lang="fr">Espagne</country>
<wicri:regionArea>Molecular Oncology Laboratory, Instituto de Investigacion Sanitaria San Carlos (IdISSC), Hospital Clinico San Carlos, Madrid</wicri:regionArea>
<placeName><settlement type="city">Madrid</settlement>
<region nuts="2" type="region">Communauté de Madrid</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Vega, Ana" sort="Vega, Ana" uniqKey="Vega A" first="Ana" last="Vega">Ana Vega</name>
<affiliation wicri:level="1"><nlm:aff id="ddw094-aff3">Fundacion Publica Galega de Medicina Xenómica-SERGAS Grupo de Medicina Xenómica-USC, IDIS, CIBERER, Santiago de Compostela 15706, Spain</nlm:aff>
<country xml:lang="fr">Espagne</country>
<wicri:regionArea>Fundacion Publica Galega de Medicina Xenómica-SERGAS Grupo de Medicina Xenómica-USC, IDIS, CIBERER, Santiago de Compostela 15706</wicri:regionArea>
<wicri:noRegion>Santiago de Compostela 15706</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Walker, Logan C" sort="Walker, Logan C" uniqKey="Walker L" first="Logan C." last="Walker">Logan C. Walker</name>
<affiliation wicri:level="1"><nlm:aff id="ddw094-aff4">Department of Pathology, University of Otago, Christchurch 8140, New Zealand</nlm:aff>
<country xml:lang="fr">Nouvelle-Zélande</country>
<wicri:regionArea>Department of Pathology, University of Otago, Christchurch 8140</wicri:regionArea>
<wicri:noRegion>Christchurch 8140</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Van Ierland, Yvette" sort="Van Ierland, Yvette" uniqKey="Van Ierland Y" first="Yvette" last="Van Ierland">Yvette Van Ierland</name>
<affiliation wicri:level="1"><nlm:aff id="ddw094-aff5">Department of Clinical Genetics, Leiden University Medical Centre, Leiden 2300, The Netherlands</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Department of Clinical Genetics, Leiden University Medical Centre, Leiden 2300</wicri:regionArea>
<placeName><settlement type="city">Leyde</settlement>
<region nuts="2" type="province">Hollande-Méridionale</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Baralle, Diana" sort="Baralle, Diana" uniqKey="Baralle D" first="Diana" last="Baralle">Diana Baralle</name>
<affiliation wicri:level="1"><nlm:aff id="ddw094-aff6">Human Development and Health, Faculty of Medicine, University of Southampton, Southampton S016 5YA, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Human Development and Health, Faculty of Medicine, University of Southampton, Southampton S016 5YA</wicri:regionArea>
<wicri:noRegion>Southampton S016 5YA</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Santamari A, Marta" sort="Santamari A, Marta" uniqKey="Santamari A M" first="Marta" last="Santamari A">Marta Santamari A</name>
<affiliation wicri:level="4"><nlm:aff id="ddw094-aff7">CIBERER, Grupo de Medicina Xenómica-USC, Universidade de Santiago de Compostela, Fundacion Galega de Medicina Xenómica (SERGAS), Santiago de Compostela 15706, Spain</nlm:aff>
<country xml:lang="fr">Espagne</country>
<wicri:regionArea>CIBERER, Grupo de Medicina Xenómica-USC, Universidade de Santiago de Compostela, Fundacion Galega de Medicina Xenómica (SERGAS), Santiago de Compostela 15706</wicri:regionArea>
<orgName type="university">Université de Saint-Jacques-de-Compostelle</orgName>
<placeName><settlement type="city">Santiago de Compostela</settlement>
<region nuts="2" type="region">Galice</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Lattimore, Vanessa" sort="Lattimore, Vanessa" uniqKey="Lattimore V" first="Vanessa" last="Lattimore">Vanessa Lattimore</name>
<affiliation wicri:level="1"><nlm:aff id="ddw094-aff4">Department of Pathology, University of Otago, Christchurch 8140, New Zealand</nlm:aff>
<country xml:lang="fr">Nouvelle-Zélande</country>
<wicri:regionArea>Department of Pathology, University of Otago, Christchurch 8140</wicri:regionArea>
<wicri:noRegion>Christchurch 8140</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Wijnen, Juul" sort="Wijnen, Juul" uniqKey="Wijnen J" first="Juul" last="Wijnen">Juul Wijnen</name>
<affiliation wicri:level="1"><nlm:aff id="ddw094-aff5">Department of Clinical Genetics, Leiden University Medical Centre, Leiden 2300, The Netherlands</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Department of Clinical Genetics, Leiden University Medical Centre, Leiden 2300</wicri:regionArea>
<placeName><settlement type="city">Leyde</settlement>
<region nuts="2" type="province">Hollande-Méridionale</region>
</placeName>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="ddw094-aff8">Department of Clinical Genetics, Leiden University Medical Centre, Leiden 2300, The Netherlands</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Department of Clinical Genetics, Leiden University Medical Centre, Leiden 2300</wicri:regionArea>
<placeName><settlement type="city">Leyde</settlement>
<region nuts="2" type="province">Hollande-Méridionale</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Whiley, Philip" sort="Whiley, Philip" uniqKey="Whiley P" first="Philip" last="Whiley">Philip Whiley</name>
<affiliation wicri:level="1"><nlm:aff id="ddw094-aff9">Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, QLD 4006, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, QLD 4006</wicri:regionArea>
<wicri:noRegion>QLD 4006</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Blanco, Ana" sort="Blanco, Ana" uniqKey="Blanco A" first="Ana" last="Blanco">Ana Blanco</name>
<affiliation wicri:level="1"><nlm:aff id="ddw094-aff3">Fundacion Publica Galega de Medicina Xenómica-SERGAS Grupo de Medicina Xenómica-USC, IDIS, CIBERER, Santiago de Compostela 15706, Spain</nlm:aff>
<country xml:lang="fr">Espagne</country>
<wicri:regionArea>Fundacion Publica Galega de Medicina Xenómica-SERGAS Grupo de Medicina Xenómica-USC, IDIS, CIBERER, Santiago de Compostela 15706</wicri:regionArea>
<wicri:noRegion>Santiago de Compostela 15706</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Raponi, Michela" sort="Raponi, Michela" uniqKey="Raponi M" first="Michela" last="Raponi">Michela Raponi</name>
<affiliation wicri:level="1"><nlm:aff id="ddw094-aff6">Human Development and Health, Faculty of Medicine, University of Southampton, Southampton S016 5YA, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Human Development and Health, Faculty of Medicine, University of Southampton, Southampton S016 5YA</wicri:regionArea>
<wicri:noRegion>Southampton S016 5YA</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Hauke, Jan" sort="Hauke, Jan" uniqKey="Hauke J" first="Jan" last="Hauke">Jan Hauke</name>
<affiliation wicri:level="3"><nlm:aff id="ddw094-aff10">Center for Hereditary Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), Medical Faculty, University Hosptial Cologne, Cologne 50931, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Center for Hereditary Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), Medical Faculty, University Hosptial Cologne, Cologne 50931</wicri:regionArea>
<placeName><region type="land" nuts="1">Rhénanie-du-Nord-Westphalie</region>
<region type="district" nuts="2">District de Cologne</region>
<settlement type="city">Cologne</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Wappenschmidt, Barbara" sort="Wappenschmidt, Barbara" uniqKey="Wappenschmidt B" first="Barbara" last="Wappenschmidt">Barbara Wappenschmidt</name>
<affiliation wicri:level="3"><nlm:aff id="ddw094-aff10">Center for Hereditary Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), Medical Faculty, University Hosptial Cologne, Cologne 50931, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Center for Hereditary Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), Medical Faculty, University Hosptial Cologne, Cologne 50931</wicri:regionArea>
<placeName><region type="land" nuts="1">Rhénanie-du-Nord-Westphalie</region>
<region type="district" nuts="2">District de Cologne</region>
<settlement type="city">Cologne</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Becker, Alexandra" sort="Becker, Alexandra" uniqKey="Becker A" first="Alexandra" last="Becker">Alexandra Becker</name>
<affiliation wicri:level="3"><nlm:aff id="ddw094-aff10">Center for Hereditary Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), Medical Faculty, University Hosptial Cologne, Cologne 50931, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Center for Hereditary Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), Medical Faculty, University Hosptial Cologne, Cologne 50931</wicri:regionArea>
<placeName><region type="land" nuts="1">Rhénanie-du-Nord-Westphalie</region>
<region type="district" nuts="2">District de Cologne</region>
<settlement type="city">Cologne</settlement>
</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>
<affiliation wicri:level="1"><nlm:aff id="ddw094-aff11">Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital, Copenhagen DK-2100, Denmark</nlm:aff>
<country xml:lang="fr">Danemark</country>
<wicri:regionArea>Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital, Copenhagen DK-2100</wicri:regionArea>
<placeName><settlement type="city">Copenhague</settlement>
<region type="région" nuts="2">Hovedstaden</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Behar, Raquel" sort="Behar, Raquel" uniqKey="Behar R" first="Raquel" last="Behar">Raquel Behar</name>
<affiliation wicri:level="3"><nlm:aff id="ddw094-aff1">Molecular Oncology Laboratory, Instituto de Investigacion Sanitaria San Carlos (IdISSC), Hospital Clinico San Carlos, Madrid, Spain</nlm:aff>
<country xml:lang="fr">Espagne</country>
<wicri:regionArea>Molecular Oncology Laboratory, Instituto de Investigacion Sanitaria San Carlos (IdISSC), Hospital Clinico San Carlos, Madrid</wicri:regionArea>
<placeName><settlement type="city">Madrid</settlement>
<region nuts="2" type="region">Communauté de Madrid</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Investigators, Kconfab" sort="Investigators, Kconfab" uniqKey="Investigators K" first="Kconfab" last="Investigators">Kconfab Investigators</name>
<affiliation wicri:level="4"><nlm:aff id="ddw094-aff12">Peter MacCallum Cancer Center, University of Melbourne, Melbourne, VIC 3002, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Peter MacCallum Cancer Center, University of Melbourne, Melbourne, VIC 3002</wicri:regionArea>
<orgName type="university">Université de Melbourne</orgName>
<placeName><settlement type="city">Melbourne</settlement>
<region type="état">Victoria (État)</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Niederacher, Diether" sort="Niederacher, Diether" uniqKey="Niederacher D" first="Diether" last="Niederacher">Diether Niederacher</name>
<affiliation wicri:level="3"><nlm:aff id="ddw094-aff13">Department of Gynaecology and Obstetrics, University Hospital Düsseldorf, Heinrich-Heine University Düsseldorf, Düsseldorf 40225, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of Gynaecology and Obstetrics, University Hospital Düsseldorf, Heinrich-Heine University Düsseldorf, Düsseldorf 40225</wicri:regionArea>
<placeName><region type="land" nuts="1">Rhénanie-du-Nord-Westphalie</region>
<region type="district" nuts="2">District de Düsseldorf</region>
<settlement type="city">Düsseldorf</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Arnold, Norbert" sort="Arnold, Norbert" uniqKey="Arnold N" first="Norbert" last="Arnold">Norbert Arnold</name>
<affiliation wicri:level="3"><nlm:aff id="ddw094-aff14">Department of Gynaecology and Obstetrics, University Hospital of Schleswig-Holstein, Campus Kiel, Christian-Albrechts University Kiel, Kiel 24105, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of Gynaecology and Obstetrics, University Hospital of Schleswig-Holstein, Campus Kiel, Christian-Albrechts University Kiel, Kiel 24105</wicri:regionArea>
<placeName><region type="land" nuts="2">Schleswig-Holstein</region>
<settlement type="city">Kiel</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Dworniczak, Bernd" sort="Dworniczak, Bernd" uniqKey="Dworniczak B" first="Bernd" last="Dworniczak">Bernd Dworniczak</name>
<affiliation wicri:level="3"><nlm:aff id="ddw094-aff15">Institute of Human Genetics, University of Münster, Münster 48149, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Institute of Human Genetics, University of Münster, Münster 48149</wicri:regionArea>
<placeName><region type="land" nuts="1">Rhénanie-du-Nord-Westphalie</region>
<region type="district" nuts="2">District de Münster</region>
<settlement type="city">Münster</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Steinemann, Doris" sort="Steinemann, Doris" uniqKey="Steinemann D" first="Doris" last="Steinemann">Doris Steinemann</name>
<affiliation wicri:level="3"><nlm:aff id="ddw094-aff16">Institute of Human Genetics, Hannover Medical School, Hannover 30625, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Institute of Human Genetics, Hannover Medical School, Hannover 30625</wicri:regionArea>
<placeName><region type="land" nuts="2">Basse-Saxe</region>
<settlement type="city">Hanovre</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Faust, Ulrike" sort="Faust, Ulrike" uniqKey="Faust U" first="Ulrike" last="Faust">Ulrike Faust</name>
<affiliation wicri:level="1"><nlm:aff id="ddw094-aff17">Institute of Medical Genetics and Applied Genomics, University Hospital Tuebingen, Tuebingen 72076, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Institute of Medical Genetics and Applied Genomics, University Hospital Tuebingen, Tuebingen 72076</wicri:regionArea>
<wicri:noRegion>72076</wicri:noRegion>
<wicri:noRegion>72076</wicri:noRegion>
<wicri:noRegion>Tuebingen 72076</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Rubinstein, Wendy" sort="Rubinstein, Wendy" uniqKey="Rubinstein W" first="Wendy" last="Rubinstein">Wendy Rubinstein</name>
<affiliation wicri:level="2"><nlm:aff id="ddw094-aff18">National Institutes of Health, Bethesda, MD 20892-2152, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>National Institutes of Health, Bethesda, MD 20892-2152</wicri:regionArea>
<placeName><region type="state">Maryland</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Hulick, Peter J" sort="Hulick, Peter J" uniqKey="Hulick P" first="Peter J." last="Hulick">Peter J. Hulick</name>
<affiliation wicri:level="2"><nlm:aff id="ddw094-aff19">Center for Medical Genetics, NorthShore University Health System, University of Chicago Pritzker School of Medicine, Evanston, IL 60201, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Center for Medical Genetics, NorthShore University Health System, University of Chicago Pritzker School of Medicine, Evanston, IL 60201</wicri:regionArea>
<placeName><region type="state">Illinois</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Houdayer, Claude" sort="Houdayer, Claude" uniqKey="Houdayer C" first="Claude" last="Houdayer">Claude Houdayer</name>
<affiliation wicri:level="3"><nlm:aff id="ddw094-aff20">Service de Génétique, Department de Biologie des Tumeurs, Institut Curie and INSERM U830, Centre de Recherche de l'Institut Curie, Paris, and Universite Paris Descartes, Sorbonne Paris Cite, Paris 75248, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Service de Génétique, Department de Biologie des Tumeurs, Institut Curie and INSERM U830, Centre de Recherche de l'Institut Curie, Paris, and Universite Paris Descartes, Sorbonne Paris Cite, Paris 75248</wicri:regionArea>
<placeName><region type="region" nuts="2">Île-de-France</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Caputo, Sandrine M" sort="Caputo, Sandrine M" uniqKey="Caputo S" first="Sandrine M." last="Caputo">Sandrine M. Caputo</name>
<affiliation wicri:level="3"><nlm:aff id="ddw094-aff21">Service de Génétique, Department de Biologie des Tumeurs, Institut Curie, Paris 75248, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Service de Génétique, Department de Biologie des Tumeurs, Institut Curie, Paris 75248</wicri:regionArea>
<placeName><region type="region" nuts="2">Île-de-France</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Castera, Laurent" sort="Castera, Laurent" uniqKey="Castera L" first="Laurent" last="Castera">Laurent Castera</name>
<affiliation wicri:level="3"><nlm:aff id="ddw094-aff22">Centre Francois Baclesse, Laboratoire de Biologie et de Genetique du Cancer, 14076 Caen, Paris 75248, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Centre Francois Baclesse, Laboratoire de Biologie et de Genetique du Cancer, 14076 Caen, Paris 75248</wicri:regionArea>
<placeName><region type="region" nuts="2">Île-de-France</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Pesaran, Tina" sort="Pesaran, Tina" uniqKey="Pesaran T" first="Tina" last="Pesaran">Tina Pesaran</name>
<affiliation wicri:level="2"><nlm:aff id="ddw094-aff23">Ambry Genetics, Aliso Viejo, CA 92656, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Ambry Genetics, Aliso Viejo, CA 92656</wicri:regionArea>
<placeName><region type="state">Californie</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Chao, Elizabeth" sort="Chao, Elizabeth" uniqKey="Chao E" first="Elizabeth" last="Chao">Elizabeth Chao</name>
<affiliation wicri:level="2"><nlm:aff id="ddw094-aff23">Ambry Genetics, Aliso Viejo, CA 92656, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Ambry Genetics, Aliso Viejo, CA 92656</wicri:regionArea>
<placeName><region type="state">Californie</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Brewer, Carole" sort="Brewer, Carole" uniqKey="Brewer C" first="Carole" last="Brewer">Carole Brewer</name>
<affiliation wicri:level="1"><nlm:aff id="ddw094-aff24">Department of Clinical Genetics, Royal Devon and Exeter Hospital, Exeter, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Department of Clinical Genetics, Royal Devon and Exeter Hospital, Exeter</wicri:regionArea>
<wicri:noRegion>Exeter</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Southey, Melissa C" sort="Southey, Melissa C" uniqKey="Southey M" first="Melissa C." last="Southey">Melissa C. Southey</name>
<affiliation wicri:level="4"><nlm:aff id="ddw094-aff25">Genetic Epidemiology Laboratory, Department of Pathology, The University of Melbourne, Melbourne, VIC 3010, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Genetic Epidemiology Laboratory, Department of Pathology, The University of Melbourne, Melbourne, VIC 3010</wicri:regionArea>
<orgName type="university">Université de Melbourne</orgName>
<placeName><settlement type="city">Melbourne</settlement>
<region type="état">Victoria (État)</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Van Asperen, Christi J" sort="Van Asperen, Christi J" uniqKey="Van Asperen C" first="Christi J." last="Van Asperen">Christi J. Van Asperen</name>
<affiliation wicri:level="1"><nlm:aff id="ddw094-aff5">Department of Clinical Genetics, Leiden University Medical Centre, Leiden 2300, The Netherlands</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Department of Clinical Genetics, Leiden University Medical Centre, Leiden 2300</wicri:regionArea>
<placeName><settlement type="city">Leyde</settlement>
<region nuts="2" type="province">Hollande-Méridionale</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="1"><nlm:aff id="ddw094-aff26">Department of Obstetrics and Gynaecology, Medical University of Vienna, Vienna, Austria, Waehringer Guertel 18-20, A 1090 Vienna, Austria</nlm:aff>
<country xml:lang="fr">Autriche</country>
<wicri:regionArea>Department of Obstetrics and Gynaecology, Medical University of Vienna, Vienna, Austria, Waehringer Guertel 18-20, A 1090 Vienna</wicri:regionArea>
<wicri:noRegion>A 1090 Vienna</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Sullivan, Jan" sort="Sullivan, Jan" uniqKey="Sullivan J" first="Jan" last="Sullivan">Jan Sullivan</name>
<affiliation wicri:level="1"><nlm:aff id="ddw094-aff27">Genetic Health Service NZ, South Island Hub, Christchurch Hospital, Christchurch 8140, New Zealand</nlm:aff>
<country xml:lang="fr">Nouvelle-Zélande</country>
<wicri:regionArea>Genetic Health Service NZ, South Island Hub, Christchurch Hospital, Christchurch 8140</wicri:regionArea>
<wicri:noRegion>Christchurch 8140</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Poplawski, Nicola" sort="Poplawski, Nicola" uniqKey="Poplawski N" first="Nicola" last="Poplawski">Nicola Poplawski</name>
<affiliation wicri:level="1"><nlm:aff id="ddw094-aff28">Adult Genetics Unit, South Australian Clinical Genetics Service, SA Pathology at the Women’s and Children’s Hospital, North Adelaide, SA 5067, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Adult Genetics Unit, South Australian Clinical Genetics Service, SA Pathology at the Women’s and Children’s Hospital, North Adelaide, SA 5067</wicri:regionArea>
<wicri:noRegion>SA 5067</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="ddw094-aff29">University Department of Paediatrics, University of Adelaide, North Terrace, Adelaide, SA 5000, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>University Department of Paediatrics, University of Adelaide, North Terrace, Adelaide, SA 5000</wicri:regionArea>
<wicri:noRegion>SA 5000</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Mai, Phuong" sort="Mai, Phuong" uniqKey="Mai P" first="Phuong" last="Mai">Phuong Mai</name>
<affiliation wicri:level="2"><nlm:aff id="ddw094-aff30">Clinical Genetics Branch, DCEG, NCI, NIH, Bethesda, MD, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Clinical Genetics Branch, DCEG, NCI, NIH, Bethesda, MD</wicri:regionArea>
<placeName><region type="state">Maryland</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Peto, Julian" sort="Peto, Julian" uniqKey="Peto J" first="Julian" last="Peto">Julian Peto</name>
<affiliation wicri:level="1"><nlm:aff id="ddw094-aff31">London School of Hygiene and Tropical Medicine, London WC1E 7HT, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>London School of Hygiene and Tropical Medicine, London WC1E 7HT</wicri:regionArea>
<wicri:noRegion>London WC1E 7HT</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Johnson, Nichola" sort="Johnson, Nichola" uniqKey="Johnson N" first="Nichola" last="Johnson">Nichola Johnson</name>
<affiliation wicri:level="1"><nlm:aff id="ddw094-aff32">Breakthrough Breast Cancer Research Centre, Institute of Cancer Research, London SW3 6JB, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Breakthrough Breast Cancer Research Centre, Institute of Cancer Research, London SW3 6JB</wicri:regionArea>
<wicri:noRegion>London SW3 6JB</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="ddw094-aff33">Division of Breast Cancer Research, Institute of Cancer Research, London SW3 6JB, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Division of Breast Cancer Research, Institute of Cancer Research, London SW3 6JB</wicri:regionArea>
<wicri:noRegion>London SW3 6JB</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Burwinkel, Barbara" sort="Burwinkel, Barbara" uniqKey="Burwinkel B" first="Barbara" last="Burwinkel">Barbara Burwinkel</name>
<affiliation wicri:level="3"><nlm:aff id="ddw094-aff34">Molecular Biology of Breast Cancer, Department of Gynecology and Obstetrics, University of Heidelberg, Heidelberg 69120, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Molecular Biology of Breast Cancer, Department of Gynecology and Obstetrics, University of Heidelberg, Heidelberg 69120</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>
<affiliation wicri:level="3"><nlm:aff id="ddw094-aff35">Molecular Epidemiology Group, German Cancer Research Center, DKFZ, Heidelberg 69120, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Molecular Epidemiology Group, German Cancer Research Center, DKFZ, Heidelberg 69120</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="Surowy, Harald" sort="Surowy, Harald" uniqKey="Surowy H" first="Harald" last="Surowy">Harald Surowy</name>
<affiliation wicri:level="3"><nlm:aff id="ddw094-aff34">Molecular Biology of Breast Cancer, Department of Gynecology and Obstetrics, University of Heidelberg, Heidelberg 69120, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Molecular Biology of Breast Cancer, Department of Gynecology and Obstetrics, University of Heidelberg, Heidelberg 69120</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>
<affiliation wicri:level="3"><nlm:aff id="ddw094-aff35">Molecular Epidemiology Group, German Cancer Research Center, DKFZ, Heidelberg 69120, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Molecular Epidemiology Group, German Cancer Research Center, DKFZ, Heidelberg 69120</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="Bojesen, Stig E" sort="Bojesen, Stig E" uniqKey="Bojesen S" first="Stig E." last="Bojesen">Stig E. Bojesen</name>
<affiliation wicri:level="1"><nlm:aff id="ddw094-aff36">Copenhagen General Population Study, Herlev and Gentofte Hospital, Copenhagen 2730, Denmark</nlm:aff>
<country xml:lang="fr">Danemark</country>
<wicri:regionArea>Copenhagen General Population Study, Herlev and Gentofte Hospital, Copenhagen 2730</wicri:regionArea>
<placeName><settlement type="city">Copenhague</settlement>
<region type="région" nuts="2">Hovedstaden</region>
</placeName>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="ddw094-aff37">Department of Clinical Biochemistry, Herlev Hospital, Copenhagen University Hospital, Herlev 2730, Denmark</nlm:aff>
<country xml:lang="fr">Danemark</country>
<wicri:regionArea>Department of Clinical Biochemistry, Herlev Hospital, Copenhagen University Hospital, Herlev 2730</wicri:regionArea>
<wicri:noRegion>Herlev 2730</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="ddw094-aff38">Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen 1165, Denmark</nlm:aff>
<country xml:lang="fr">Danemark</country>
<wicri:regionArea>Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen 1165</wicri:regionArea>
<placeName><settlement type="city">Copenhague</settlement>
<region type="région" nuts="2">Hovedstaden</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Flyger, Henrik" sort="Flyger, Henrik" uniqKey="Flyger H" first="Henrik" last="Flyger">Henrik Flyger</name>
<affiliation wicri:level="1"><nlm:aff id="ddw094-aff39">Department of Breast Surgery, Herlev and Gentofte Hospital, Copenhagen University Hospital, 2730 Denmark</nlm:aff>
<country xml:lang="fr">Danemark</country>
<wicri:regionArea>Department of Breast Surgery, Herlev and Gentofte Hospital, Copenhagen University Hospital</wicri:regionArea>
<wicri:noRegion>Copenhagen University Hospital</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Lindblom, Annika" sort="Lindblom, Annika" uniqKey="Lindblom A" first="Annika" last="Lindblom">Annika Lindblom</name>
<affiliation wicri:level="1"><nlm:aff id="ddw094-aff40">Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm SE-171 77, Sweden</nlm:aff>
<country xml:lang="fr">Suède</country>
<wicri:regionArea>Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm SE-171 77</wicri:regionArea>
<wicri:noRegion>Stockholm SE-171 77</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Margolin, Sara" sort="Margolin, Sara" uniqKey="Margolin S" first="Sara" last="Margolin">Sara Margolin</name>
<affiliation wicri:level="1"><nlm:aff id="ddw094-aff41">Department of Oncology Pathology, Karolinska Institutet, Stockholm SE-171 77, Sweden</nlm:aff>
<country xml:lang="fr">Suède</country>
<wicri:regionArea>Department of Oncology Pathology, Karolinska Institutet, Stockholm SE-171 77</wicri:regionArea>
<wicri:noRegion>Stockholm SE-171 77</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Chang Claude, Jenny" sort="Chang Claude, Jenny" uniqKey="Chang Claude J" first="Jenny" last="Chang-Claude">Jenny Chang-Claude</name>
<affiliation wicri:level="3"><nlm:aff id="ddw094-aff42">Division of Cancer Epidemiology, German Cancer Research Center (DKFZ), Heidelberg 69120, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Division of Cancer Epidemiology, German Cancer Research Center (DKFZ), Heidelberg 69120</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>
<affiliation wicri:level="1"><nlm:aff id="ddw094-aff43">University Cancer Center Hamburg (UCCH), University Medical Center Hamburg-Eppendorf, Hamburg 20246, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>University Cancer Center Hamburg (UCCH), University Medical Center Hamburg-Eppendorf, Hamburg 20246</wicri:regionArea>
<wicri:noRegion>20246</wicri:noRegion>
<placeName><settlement type="city">Hambourg</settlement>
<region type="land" nuts="2">Hambourg</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Rudolph, Anja" sort="Rudolph, Anja" uniqKey="Rudolph A" first="Anja" last="Rudolph">Anja Rudolph</name>
<affiliation wicri:level="3"><nlm:aff id="ddw094-aff42">Division of Cancer Epidemiology, German Cancer Research Center (DKFZ), Heidelberg 69120, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Division of Cancer Epidemiology, German Cancer Research Center (DKFZ), Heidelberg 69120</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="Radice, Paolo" sort="Radice, Paolo" uniqKey="Radice P" first="Paolo" last="Radice">Paolo Radice</name>
<affiliation wicri:level="1"><nlm:aff id="ddw094-aff44">Unit of “Molecular bases of genetic risk and genetic testing”, Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale dei Tumori, Milano 20139, Italy</nlm:aff>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Unit of “Molecular bases of genetic risk and genetic testing”, Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale dei Tumori, Milano 20139</wicri:regionArea>
<wicri:noRegion>Milano 20139</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Galastri, Laura" sort="Galastri, Laura" uniqKey="Galastri L" first="Laura" last="Galastri">Laura Galastri</name>
<affiliation wicri:level="1"><nlm:aff id="ddw094-aff45">Associazione Volontari Italiani Sangue (AVIS) comunale di Milano, Milano 20139, Italy</nlm:aff>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Associazione Volontari Italiani Sangue (AVIS) comunale di Milano, Milano 20139</wicri:regionArea>
<wicri:noRegion>Milano 20139</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Olson, Janet E" sort="Olson, Janet E" uniqKey="Olson J" first="Janet E." last="Olson">Janet E. Olson</name>
<affiliation wicri:level="2"><nlm:aff id="ddw094-aff46">Department of Health Sciences Research, Mayo Clinic, Rochester, MN 55905, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Health Sciences Research, Mayo Clinic, Rochester, MN 55905</wicri:regionArea>
<placeName><region type="state">Minnesota</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Hallberg, Emily" sort="Hallberg, Emily" uniqKey="Hallberg E" first="Emily" last="Hallberg">Emily Hallberg</name>
<affiliation wicri:level="2"><nlm:aff id="ddw094-aff46">Department of Health Sciences Research, Mayo Clinic, Rochester, MN 55905, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Health Sciences Research, Mayo Clinic, Rochester, MN 55905</wicri:regionArea>
<placeName><region type="state">Minnesota</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Giles, Graham G" sort="Giles, Graham G" uniqKey="Giles G" first="Graham G." last="Giles">Graham G. Giles</name>
<affiliation wicri:level="4"><nlm:aff id="ddw094-aff47">Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, University of Melbourne, VIC 3010, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, University of Melbourne, VIC 3010</wicri:regionArea>
<orgName type="university">Université de Melbourne</orgName>
<placeName><settlement type="city">Melbourne</settlement>
<region type="état">Victoria (État)</region>
</placeName>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="ddw094-aff48">Cancer Epidemiology Centre, Cancer Council Victoria, Melbourne, VIC 3004, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Cancer Epidemiology Centre, Cancer Council Victoria, Melbourne, VIC 3004</wicri:regionArea>
<wicri:noRegion>VIC 3004</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Milne, Roger L" sort="Milne, Roger L" uniqKey="Milne R" first="Roger L." last="Milne">Roger L. Milne</name>
<affiliation wicri:level="4"><nlm:aff id="ddw094-aff47">Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, University of Melbourne, VIC 3010, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, University of Melbourne, VIC 3010</wicri:regionArea>
<orgName type="university">Université de Melbourne</orgName>
<placeName><settlement type="city">Melbourne</settlement>
<region type="état">Victoria (État)</region>
</placeName>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="ddw094-aff48">Cancer Epidemiology Centre, Cancer Council Victoria, Melbourne, VIC 3004, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Cancer Epidemiology Centre, Cancer Council Victoria, Melbourne, VIC 3004</wicri:regionArea>
<wicri:noRegion>VIC 3004</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Andrulis, Irene L" sort="Andrulis, Irene L" uniqKey="Andrulis I" first="Irene L." last="Andrulis">Irene L. Andrulis</name>
<affiliation wicri:level="1"><nlm:aff id="ddw094-aff49">Lunenfeld-Tanenbaum Research Institute, Mount Sinai Hospital, Toronto, ON M5G 1X5, Canada</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Lunenfeld-Tanenbaum Research Institute, Mount Sinai Hospital, Toronto, ON M5G 1X5</wicri:regionArea>
<wicri:noRegion>ON M5G 1X5</wicri:noRegion>
</affiliation>
<affiliation wicri:level="4"><nlm:aff id="ddw094-aff50">Department of Molecular Genetics, University of Toronto, M5B 1W8, Canada</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Department of Molecular Genetics, University of Toronto, M5B 1W8</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="Glendon, Gord" sort="Glendon, Gord" uniqKey="Glendon G" first="Gord" last="Glendon">Gord Glendon</name>
<affiliation wicri:level="1"><nlm:aff id="ddw094-aff49">Lunenfeld-Tanenbaum Research Institute, Mount Sinai Hospital, Toronto, ON M5G 1X5, Canada</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Lunenfeld-Tanenbaum Research Institute, Mount Sinai Hospital, Toronto, ON M5G 1X5</wicri:regionArea>
<wicri:noRegion>ON M5G 1X5</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Hall, Per" sort="Hall, Per" uniqKey="Hall P" first="Per" last="Hall">Per Hall</name>
<affiliation wicri:level="1"><nlm:aff id="ddw094-aff51">Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm SE-171 77, Sweden</nlm:aff>
<country xml:lang="fr">Suède</country>
<wicri:regionArea>Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm SE-171 77</wicri:regionArea>
<wicri:noRegion>Stockholm SE-171 77</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Czene, Kamila" sort="Czene, Kamila" uniqKey="Czene K" first="Kamila" last="Czene">Kamila Czene</name>
<affiliation wicri:level="1"><nlm:aff id="ddw094-aff51">Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm SE-171 77, Sweden</nlm:aff>
<country xml:lang="fr">Suède</country>
<wicri:regionArea>Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm SE-171 77</wicri:regionArea>
<wicri:noRegion>Stockholm SE-171 77</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Blows, Fiona" sort="Blows, Fiona" uniqKey="Blows F" first="Fiona" last="Blows">Fiona Blows</name>
<affiliation wicri:level="4"><nlm:aff id="ddw094-aff52">Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge CB1 8RN, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge CB1 8RN</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="Shah, Mitul" sort="Shah, Mitul" uniqKey="Shah M" first="Mitul" last="Shah">Mitul Shah</name>
<affiliation wicri:level="4"><nlm:aff id="ddw094-aff52">Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge CB1 8RN, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge CB1 8RN</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="Wang, Qin" sort="Wang, Qin" uniqKey="Wang Q" first="Qin" last="Wang">Qin Wang</name>
<affiliation wicri:level="4"><nlm:aff id="ddw094-aff53">Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge CB1 8RN, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge CB1 8RN</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="Dennis, Joe" sort="Dennis, Joe" uniqKey="Dennis J" first="Joe" last="Dennis">Joe Dennis</name>
<affiliation wicri:level="4"><nlm:aff id="ddw094-aff53">Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge CB1 8RN, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge CB1 8RN</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="Michailidou, Kyriaki" sort="Michailidou, Kyriaki" uniqKey="Michailidou K" first="Kyriaki" last="Michailidou">Kyriaki Michailidou</name>
<affiliation wicri:level="4"><nlm:aff id="ddw094-aff53">Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge CB1 8RN, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge CB1 8RN</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>
<affiliation wicri:level="1"><nlm:aff id="ddw094-aff54">Department of Electron Microscopy/Molecular Pathology, The Cyprus Institute of Neurology and Genetics, 1683, Nicosia, Cyprus</nlm:aff>
<country xml:lang="fr">Chypre (pays)</country>
<wicri:regionArea>Department of Electron Microscopy/Molecular Pathology, The Cyprus Institute of Neurology and Genetics, 1683, Nicosia</wicri:regionArea>
<wicri:noRegion>Nicosia</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Mcguffog, Lesley" sort="Mcguffog, Lesley" uniqKey="Mcguffog L" first="Lesley" last="Mcguffog">Lesley Mcguffog</name>
<affiliation wicri:level="4"><nlm:aff id="ddw094-aff53">Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge CB1 8RN, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge CB1 8RN</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="Bolla, Manjeet K" sort="Bolla, Manjeet K" uniqKey="Bolla M" first="Manjeet K." last="Bolla">Manjeet K. Bolla</name>
<affiliation wicri:level="4"><nlm:aff id="ddw094-aff53">Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge CB1 8RN, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge CB1 8RN</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="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="ddw094-aff53">Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge CB1 8RN, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge CB1 8RN</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="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="ddw094-aff53">Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge CB1 8RN, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge CB1 8RN</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="ddw094-aff46">Department of Health Sciences Research, Mayo Clinic, Rochester, MN 55905, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Health Sciences Research, Mayo Clinic, Rochester, MN 55905</wicri:regionArea>
<placeName><region type="state">Minnesota</region>
</placeName>
</affiliation>
<affiliation wicri:level="2"><nlm:aff id="ddw094-aff55">Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905</wicri:regionArea>
<placeName><region type="state">Minnesota</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Tavtigian, Sean" sort="Tavtigian, Sean" uniqKey="Tavtigian S" first="Sean" last="Tavtigian">Sean Tavtigian</name>
<affiliation><nlm:aff id="ddw094-aff56">Department of Oncological Sciences</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Vreeswijk, Maaike P" sort="Vreeswijk, Maaike P" uniqKey="Vreeswijk M" first="Maaike P." last="Vreeswijk">Maaike P. Vreeswijk</name>
<affiliation wicri:level="1"><nlm:aff id="ddw094-aff5">Department of Clinical Genetics, Leiden University Medical Centre, Leiden 2300, The Netherlands</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Department of Clinical Genetics, Leiden University Medical Centre, Leiden 2300</wicri:regionArea>
<placeName><settlement type="city">Leyde</settlement>
<region nuts="2" type="province">Hollande-Méridionale</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Parsons, Michael" sort="Parsons, Michael" uniqKey="Parsons M" first="Michael" last="Parsons">Michael Parsons</name>
<affiliation wicri:level="1"><nlm:aff id="ddw094-aff9">Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, QLD 4006, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, QLD 4006</wicri:regionArea>
<wicri:noRegion>QLD 4006</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Meeks, Huong D" sort="Meeks, Huong D" uniqKey="Meeks H" first="Huong D." last="Meeks">Huong D. Meeks</name>
<affiliation><nlm:aff id="ddw094-aff56">Department of Oncological Sciences</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Martins, Alexandra" sort="Martins, Alexandra" uniqKey="Martins A" first="Alexandra" last="Martins">Alexandra Martins</name>
<affiliation wicri:level="3"><nlm:aff id="ddw094-aff2">Inserm U1079-IRIB, University of Rouen, Normandy Centre for Genomic and Personalized Medicine, Rouen, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Inserm U1079-IRIB, University of Rouen, Normandy Centre for Genomic and Personalized Medicine, Rouen</wicri:regionArea>
<placeName><region type="region">Région Normandie</region>
<region type="old region">Haute-Normandie</region>
<settlement type="city">Rouen</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Goldgar, David E" sort="Goldgar, David E" uniqKey="Goldgar D" first="David E." last="Goldgar">David E. Goldgar</name>
<affiliation wicri:level="2"><nlm:aff id="ddw094-aff57">Department of Dermatology, Huntsman Cancer Institute, University of Utah School of Medicine, Salt Lake City, UT 84132, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Dermatology, Huntsman Cancer Institute, University of Utah School of Medicine, Salt Lake City, UT 84132</wicri:regionArea>
<placeName><region type="state">Utah</region>
</placeName>
</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="ddw094-aff9">Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, QLD 4006, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, QLD 4006</wicri:regionArea>
<wicri:noRegion>QLD 4006</wicri:noRegion>
</affiliation>
</author>
</analytic>
<series><title level="j">Human Molecular Genetics</title>
<idno type="ISSN">0964-6906</idno>
<idno type="eISSN">1460-2083</idno>
<imprint><date when="2016">2016</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term>
<term>Aged</term>
<term>Alternative Splicing (genetics)</term>
<term>BRCA1 Protein (genetics)</term>
<term>Breast Neoplasms (genetics)</term>
<term>Breast Neoplasms (pathology)</term>
<term>DNA Mutational Analysis</term>
<term>Exons (genetics)</term>
<term>Female</term>
<term>Gene Expression Regulation, Neoplastic</term>
<term>Humans</term>
<term>Middle Aged</term>
<term>Mutation (genetics)</term>
<term>Ovarian Neoplasms (genetics)</term>
<term>Ovarian Neoplasms (pathology)</term>
<term>RNA Splice Sites (genetics)</term>
<term>RNA Splicing (genetics)</term>
<term>Tumor Suppressor Proteins (genetics)</term>
</keywords>
<keywords scheme="KwdFr" xml:lang="fr"><term>Adulte</term>
<term>Adulte d'âge moyen</term>
<term>Analyse de mutations d'ADN</term>
<term>Exons (génétique)</term>
<term>Femelle</term>
<term>Humains</term>
<term>Mutation (génétique)</term>
<term>Protéine BRCA1 (génétique)</term>
<term>Protéines suppresseurs de tumeurs (génétique)</term>
<term>Régulation de l'expression des gènes tumoraux</term>
<term>Sites d'épissage d'ARN (génétique)</term>
<term>Sujet âgé</term>
<term>Tumeurs de l'ovaire (anatomopathologie)</term>
<term>Tumeurs de l'ovaire (génétique)</term>
<term>Tumeurs du sein (anatomopathologie)</term>
<term>Tumeurs du sein (génétique)</term>
<term>Épissage alternatif (génétique)</term>
<term>Épissage des ARN (génétique)</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>BRCA1 Protein</term>
<term>RNA Splice Sites</term>
<term>Tumor Suppressor Proteins</term>
</keywords>
<keywords scheme="MESH" qualifier="anatomopathologie" xml:lang="fr"><term>Tumeurs de l'ovaire</term>
<term>Tumeurs du sein</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Alternative Splicing</term>
<term>Breast Neoplasms</term>
<term>Exons</term>
<term>Mutation</term>
<term>Ovarian Neoplasms</term>
<term>RNA Splicing</term>
</keywords>
<keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Exons</term>
<term>Mutation</term>
<term>Protéine BRCA1</term>
<term>Protéines suppresseurs de tumeurs</term>
<term>Sites d'épissage d'ARN</term>
<term>Tumeurs de l'ovaire</term>
<term>Tumeurs du sein</term>
<term>Épissage alternatif</term>
<term>Épissage des ARN</term>
</keywords>
<keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Breast Neoplasms</term>
<term>Ovarian Neoplasms</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Adult</term>
<term>Aged</term>
<term>DNA Mutational Analysis</term>
<term>Female</term>
<term>Gene Expression Regulation, Neoplastic</term>
<term>Humans</term>
<term>Middle Aged</term>
</keywords>
<keywords scheme="MESH" xml:lang="fr"><term>Adulte</term>
<term>Adulte d'âge moyen</term>
<term>Analyse de mutations d'ADN</term>
<term>Femelle</term>
<term>Humains</term>
<term>Régulation de l'expression des gènes tumoraux</term>
<term>Sujet âgé</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en"><p>A recent analysis using family history weighting and co-observation classification modeling indicated that <italic>BRCA1</italic>
c.594-2A > C (IVS9-2A > C), previously described to cause exon 10 skipping (a truncating alteration), displays characteristics inconsistent with those of a high risk pathogenic <italic>BRCA1</italic>
variant. We used large-scale genetic and clinical resources from the ENIGMA, CIMBA and BCAC consortia to assess pathogenicity of c.594-2A > C. The combined odds for causality considering case-control, segregation and breast tumor pathology information was 3.23 × 10<sup>−8</sup>
. Our data indicate that c.594-2A > C is always in <italic>cis</italic>
with c.641A > G. The spliceogenic effect of c.[594-2A > C;641A > G] was characterized using RNA analysis of human samples and splicing minigenes. As expected, c.[594-2A > C; 641A > G] caused exon 10 skipping, albeit not due to c.594-2A > C impairing the acceptor site but rather by c.641A > G modifying exon 10 splicing regulatory element(s). Multiple blood-based RNA assays indicated that the variant allele did not produce detectable levels of full-length transcripts, with a <italic>per allele BRCA1</italic>
expression profile composed of ≈70–80% truncating transcripts, and ≈20–30% of in-frame Δ9,10 transcripts predicted to encode a BRCA1 protein with tumor suppression function.</p>
<p>We confirm that <italic>BRCA1</italic>
c.[594-2A > C;641A > G] should not be considered a high-risk pathogenic variant. Importantly, results from our detailed mRNA analysis suggest that BRCA-associated cancer risk is likely not markedly increased for individuals who carry a truncating variant in <italic>BRCA1</italic>
exons 9 or 10, or any other <italic>BRCA1</italic>
allele that permits 20–30% of tumor suppressor function. More generally, our findings highlight the importance of assessing naturally occurring alternative splicing for clinical evaluation of variants in disease-causing genes.</p>
</div>
</front>
</TEI>
<affiliations><list><country><li>Allemagne</li>
<li>Australie</li>
<li>Autriche</li>
<li>Canada</li>
<li>Chypre (pays)</li>
<li>Danemark</li>
<li>Espagne</li>
<li>France</li>
<li>Italie</li>
<li>Nouvelle-Zélande</li>
<li>Pays-Bas</li>
<li>Royaume-Uni</li>
<li>Suède</li>
<li>États-Unis</li>
</country>
<region><li>Angleterre</li>
<li>Angleterre de l'Est</li>
<li>Bade-Wurtemberg</li>
<li>Basse-Saxe</li>
<li>Californie</li>
<li>Communauté de Madrid</li>
<li>District de Cologne</li>
<li>District de Düsseldorf</li>
<li>District de Karlsruhe</li>
<li>District de Münster</li>
<li>Galice</li>
<li>Hambourg</li>
<li>Haute-Normandie</li>
<li>Hollande-Méridionale</li>
<li>Hovedstaden</li>
<li>Illinois</li>
<li>Maryland</li>
<li>Minnesota</li>
<li>Ontario</li>
<li>Rhénanie-du-Nord-Westphalie</li>
<li>Région Normandie</li>
<li>Schleswig-Holstein</li>
<li>Utah</li>
<li>Victoria (État)</li>
<li>Île-de-France</li>
</region>
<settlement><li>Cambridge</li>
<li>Cologne</li>
<li>Copenhague</li>
<li>Düsseldorf</li>
<li>Hambourg</li>
<li>Hanovre</li>
<li>Heidelberg</li>
<li>Kiel</li>
<li>Leyde</li>
<li>Madrid</li>
<li>Melbourne</li>
<li>Münster</li>
<li>Rouen</li>
<li>Santiago de Compostela</li>
<li>Toronto</li>
</settlement>
<orgName><li>Université de Cambridge</li>
<li>Université de Melbourne</li>
<li>Université de Saint-Jacques-de-Compostelle</li>
<li>Université de Toronto</li>
</orgName>
</list>
<tree><noCountry><name sortKey="Meeks, Huong D" sort="Meeks, Huong D" uniqKey="Meeks H" first="Huong D." last="Meeks">Huong D. Meeks</name>
<name sortKey="Tavtigian, Sean" sort="Tavtigian, Sean" uniqKey="Tavtigian S" first="Sean" last="Tavtigian">Sean Tavtigian</name>
</noCountry>
<country name="Espagne"><region name="Communauté de Madrid"><name sortKey="De La Hoya, Miguel" sort="De La Hoya, Miguel" uniqKey="De La Hoya M" first="Miguel" last="De La Hoya">Miguel De La Hoya</name>
</region>
<name sortKey="Behar, Raquel" sort="Behar, Raquel" uniqKey="Behar R" first="Raquel" last="Behar">Raquel Behar</name>
<name sortKey="Blanco, Ana" sort="Blanco, Ana" uniqKey="Blanco A" first="Ana" last="Blanco">Ana Blanco</name>
<name sortKey="L Pez Perolio, Irene" sort="L Pez Perolio, Irene" uniqKey="L Pez Perolio I" first="Irene" last="L Pez-Perolio">Irene L Pez-Perolio</name>
<name sortKey="Santamari A, Marta" sort="Santamari A, Marta" uniqKey="Santamari A M" first="Marta" last="Santamari A">Marta Santamari A</name>
<name sortKey="Vega, Ana" sort="Vega, Ana" uniqKey="Vega A" first="Ana" last="Vega">Ana Vega</name>
</country>
<country name="France"><region name="Région Normandie"><name sortKey="Soukarieh, Omar" sort="Soukarieh, Omar" uniqKey="Soukarieh O" first="Omar" last="Soukarieh">Omar Soukarieh</name>
</region>
<name sortKey="Caputo, Sandrine M" sort="Caputo, Sandrine M" uniqKey="Caputo S" first="Sandrine M." last="Caputo">Sandrine M. Caputo</name>
<name sortKey="Castera, Laurent" sort="Castera, Laurent" uniqKey="Castera L" first="Laurent" last="Castera">Laurent Castera</name>
<name sortKey="Houdayer, Claude" sort="Houdayer, Claude" uniqKey="Houdayer C" first="Claude" last="Houdayer">Claude Houdayer</name>
<name sortKey="Martins, Alexandra" sort="Martins, Alexandra" uniqKey="Martins A" first="Alexandra" last="Martins">Alexandra Martins</name>
</country>
<country name="Nouvelle-Zélande"><noRegion><name sortKey="Walker, Logan C" sort="Walker, Logan C" uniqKey="Walker L" first="Logan C." last="Walker">Logan C. Walker</name>
</noRegion>
<name sortKey="Lattimore, Vanessa" sort="Lattimore, Vanessa" uniqKey="Lattimore V" first="Vanessa" last="Lattimore">Vanessa Lattimore</name>
<name sortKey="Sullivan, Jan" sort="Sullivan, Jan" uniqKey="Sullivan J" first="Jan" last="Sullivan">Jan Sullivan</name>
</country>
<country name="Pays-Bas"><region name="Hollande-Méridionale"><name sortKey="Van Ierland, Yvette" sort="Van Ierland, Yvette" uniqKey="Van Ierland Y" first="Yvette" last="Van Ierland">Yvette Van Ierland</name>
</region>
<name sortKey="Van Asperen, Christi J" sort="Van Asperen, Christi J" uniqKey="Van Asperen C" first="Christi J." last="Van Asperen">Christi J. Van Asperen</name>
<name sortKey="Vreeswijk, Maaike P" sort="Vreeswijk, Maaike P" uniqKey="Vreeswijk M" first="Maaike P." last="Vreeswijk">Maaike P. Vreeswijk</name>
<name sortKey="Wijnen, Juul" sort="Wijnen, Juul" uniqKey="Wijnen J" first="Juul" last="Wijnen">Juul Wijnen</name>
<name sortKey="Wijnen, Juul" sort="Wijnen, Juul" uniqKey="Wijnen J" first="Juul" last="Wijnen">Juul Wijnen</name>
</country>
<country name="Royaume-Uni"><noRegion><name sortKey="Baralle, Diana" sort="Baralle, Diana" uniqKey="Baralle D" first="Diana" last="Baralle">Diana Baralle</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="Blows, Fiona" sort="Blows, Fiona" uniqKey="Blows F" first="Fiona" last="Blows">Fiona Blows</name>
<name sortKey="Bolla, Manjeet K" sort="Bolla, Manjeet K" uniqKey="Bolla M" first="Manjeet K." last="Bolla">Manjeet K. Bolla</name>
<name sortKey="Brewer, Carole" sort="Brewer, Carole" uniqKey="Brewer C" first="Carole" last="Brewer">Carole Brewer</name>
<name sortKey="Dennis, Joe" sort="Dennis, Joe" uniqKey="Dennis J" first="Joe" last="Dennis">Joe Dennis</name>
<name sortKey="Easton, Douglas F" sort="Easton, Douglas F" uniqKey="Easton D" first="Douglas F." last="Easton">Douglas F. Easton</name>
<name sortKey="Johnson, Nichola" sort="Johnson, Nichola" uniqKey="Johnson N" first="Nichola" last="Johnson">Nichola Johnson</name>
<name sortKey="Johnson, Nichola" sort="Johnson, Nichola" uniqKey="Johnson N" first="Nichola" last="Johnson">Nichola Johnson</name>
<name sortKey="Mcguffog, Lesley" sort="Mcguffog, Lesley" uniqKey="Mcguffog L" first="Lesley" last="Mcguffog">Lesley Mcguffog</name>
<name sortKey="Michailidou, Kyriaki" sort="Michailidou, Kyriaki" uniqKey="Michailidou K" first="Kyriaki" last="Michailidou">Kyriaki Michailidou</name>
<name sortKey="Peto, Julian" sort="Peto, Julian" uniqKey="Peto J" first="Julian" last="Peto">Julian Peto</name>
<name sortKey="Raponi, Michela" sort="Raponi, Michela" uniqKey="Raponi M" first="Michela" last="Raponi">Michela Raponi</name>
<name sortKey="Shah, Mitul" sort="Shah, Mitul" uniqKey="Shah M" first="Mitul" last="Shah">Mitul Shah</name>
<name sortKey="Wang, Qin" sort="Wang, Qin" uniqKey="Wang Q" first="Qin" last="Wang">Qin Wang</name>
</country>
<country name="Australie"><noRegion><name sortKey="Whiley, Philip" sort="Whiley, Philip" uniqKey="Whiley P" first="Philip" last="Whiley">Philip Whiley</name>
</noRegion>
<name sortKey="Giles, Graham G" sort="Giles, Graham G" uniqKey="Giles G" first="Graham G." last="Giles">Graham G. Giles</name>
<name sortKey="Giles, Graham G" sort="Giles, Graham G" uniqKey="Giles G" first="Graham G." last="Giles">Graham G. Giles</name>
<name sortKey="Investigators, Kconfab" sort="Investigators, Kconfab" uniqKey="Investigators K" first="Kconfab" last="Investigators">Kconfab Investigators</name>
<name sortKey="Milne, Roger L" sort="Milne, Roger L" uniqKey="Milne R" first="Roger L." last="Milne">Roger L. Milne</name>
<name sortKey="Milne, Roger L" sort="Milne, Roger L" uniqKey="Milne R" first="Roger L." last="Milne">Roger L. Milne</name>
<name sortKey="Parsons, Michael" sort="Parsons, Michael" uniqKey="Parsons M" first="Michael" last="Parsons">Michael Parsons</name>
<name sortKey="Poplawski, Nicola" sort="Poplawski, Nicola" uniqKey="Poplawski N" first="Nicola" last="Poplawski">Nicola Poplawski</name>
<name sortKey="Poplawski, Nicola" sort="Poplawski, Nicola" uniqKey="Poplawski N" first="Nicola" last="Poplawski">Nicola Poplawski</name>
<name sortKey="Southey, Melissa C" sort="Southey, Melissa C" uniqKey="Southey M" first="Melissa C." last="Southey">Melissa C. Southey</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="Allemagne"><region name="Rhénanie-du-Nord-Westphalie"><name sortKey="Hauke, Jan" sort="Hauke, Jan" uniqKey="Hauke J" first="Jan" last="Hauke">Jan Hauke</name>
</region>
<name sortKey="Arnold, Norbert" sort="Arnold, Norbert" uniqKey="Arnold N" first="Norbert" last="Arnold">Norbert Arnold</name>
<name sortKey="Becker, Alexandra" sort="Becker, Alexandra" uniqKey="Becker A" first="Alexandra" last="Becker">Alexandra Becker</name>
<name sortKey="Burwinkel, Barbara" sort="Burwinkel, Barbara" uniqKey="Burwinkel B" first="Barbara" last="Burwinkel">Barbara Burwinkel</name>
<name sortKey="Burwinkel, Barbara" sort="Burwinkel, Barbara" uniqKey="Burwinkel B" first="Barbara" last="Burwinkel">Barbara Burwinkel</name>
<name sortKey="Chang Claude, Jenny" sort="Chang Claude, Jenny" uniqKey="Chang Claude J" first="Jenny" last="Chang-Claude">Jenny Chang-Claude</name>
<name sortKey="Chang Claude, Jenny" sort="Chang Claude, Jenny" uniqKey="Chang Claude J" first="Jenny" last="Chang-Claude">Jenny Chang-Claude</name>
<name sortKey="Dworniczak, Bernd" sort="Dworniczak, Bernd" uniqKey="Dworniczak B" first="Bernd" last="Dworniczak">Bernd Dworniczak</name>
<name sortKey="Faust, Ulrike" sort="Faust, Ulrike" uniqKey="Faust U" first="Ulrike" last="Faust">Ulrike Faust</name>
<name sortKey="Niederacher, Diether" sort="Niederacher, Diether" uniqKey="Niederacher D" first="Diether" last="Niederacher">Diether Niederacher</name>
<name sortKey="Rudolph, Anja" sort="Rudolph, Anja" uniqKey="Rudolph A" first="Anja" last="Rudolph">Anja Rudolph</name>
<name sortKey="Steinemann, Doris" sort="Steinemann, Doris" uniqKey="Steinemann D" first="Doris" last="Steinemann">Doris Steinemann</name>
<name sortKey="Surowy, Harald" sort="Surowy, Harald" uniqKey="Surowy H" first="Harald" last="Surowy">Harald Surowy</name>
<name sortKey="Surowy, Harald" sort="Surowy, Harald" uniqKey="Surowy H" first="Harald" last="Surowy">Harald Surowy</name>
<name sortKey="Wappenschmidt, Barbara" sort="Wappenschmidt, Barbara" uniqKey="Wappenschmidt B" first="Barbara" last="Wappenschmidt">Barbara Wappenschmidt</name>
</country>
<country name="Danemark"><region name="Hovedstaden"><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>
</region>
<name sortKey="Bojesen, Stig E" sort="Bojesen, Stig E" uniqKey="Bojesen S" first="Stig E." last="Bojesen">Stig E. Bojesen</name>
<name sortKey="Bojesen, Stig E" sort="Bojesen, Stig E" uniqKey="Bojesen S" first="Stig E." last="Bojesen">Stig E. Bojesen</name>
<name sortKey="Bojesen, Stig E" sort="Bojesen, Stig E" uniqKey="Bojesen S" first="Stig E." last="Bojesen">Stig E. Bojesen</name>
<name sortKey="Flyger, Henrik" sort="Flyger, Henrik" uniqKey="Flyger H" first="Henrik" last="Flyger">Henrik Flyger</name>
</country>
<country name="États-Unis"><region name="Maryland"><name sortKey="Rubinstein, Wendy" sort="Rubinstein, Wendy" uniqKey="Rubinstein W" first="Wendy" last="Rubinstein">Wendy Rubinstein</name>
</region>
<name sortKey="Chao, Elizabeth" sort="Chao, Elizabeth" uniqKey="Chao E" first="Elizabeth" last="Chao">Elizabeth Chao</name>
<name sortKey="Couch, Fergus J" sort="Couch, Fergus J" uniqKey="Couch F" first="Fergus J." last="Couch">Fergus J. Couch</name>
<name sortKey="Couch, Fergus J" sort="Couch, Fergus J" uniqKey="Couch F" first="Fergus J." last="Couch">Fergus J. Couch</name>
<name sortKey="Goldgar, David E" sort="Goldgar, David E" uniqKey="Goldgar D" first="David E." last="Goldgar">David E. Goldgar</name>
<name sortKey="Hallberg, Emily" sort="Hallberg, Emily" uniqKey="Hallberg E" first="Emily" last="Hallberg">Emily Hallberg</name>
<name sortKey="Hulick, Peter J" sort="Hulick, Peter J" uniqKey="Hulick P" first="Peter J." last="Hulick">Peter J. Hulick</name>
<name sortKey="Mai, Phuong" sort="Mai, Phuong" uniqKey="Mai P" first="Phuong" last="Mai">Phuong Mai</name>
<name sortKey="Olson, Janet E" sort="Olson, Janet E" uniqKey="Olson J" first="Janet E." last="Olson">Janet E. Olson</name>
<name sortKey="Pesaran, Tina" sort="Pesaran, Tina" uniqKey="Pesaran T" first="Tina" last="Pesaran">Tina Pesaran</name>
</country>
<country name="Autriche"><noRegion><name sortKey="Singer, Christian F" sort="Singer, Christian F" uniqKey="Singer C" first="Christian F." last="Singer">Christian F. Singer</name>
</noRegion>
</country>
<country name="Suède"><noRegion><name sortKey="Lindblom, Annika" sort="Lindblom, Annika" uniqKey="Lindblom A" first="Annika" last="Lindblom">Annika Lindblom</name>
</noRegion>
<name sortKey="Czene, Kamila" sort="Czene, Kamila" uniqKey="Czene K" first="Kamila" last="Czene">Kamila Czene</name>
<name sortKey="Hall, Per" sort="Hall, Per" uniqKey="Hall P" first="Per" last="Hall">Per Hall</name>
<name sortKey="Margolin, Sara" sort="Margolin, Sara" uniqKey="Margolin S" first="Sara" last="Margolin">Sara Margolin</name>
</country>
<country name="Italie"><noRegion><name sortKey="Radice, Paolo" sort="Radice, Paolo" uniqKey="Radice P" first="Paolo" last="Radice">Paolo Radice</name>
</noRegion>
<name sortKey="Galastri, Laura" sort="Galastri, Laura" uniqKey="Galastri L" first="Laura" last="Galastri">Laura Galastri</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="Glendon, Gord" sort="Glendon, Gord" uniqKey="Glendon G" first="Gord" last="Glendon">Gord Glendon</name>
</country>
<country name="Chypre (pays)"><noRegion><name sortKey="Michailidou, Kyriaki" sort="Michailidou, Kyriaki" uniqKey="Michailidou K" first="Kyriaki" last="Michailidou">Kyriaki Michailidou</name>
</noRegion>
</country>
</tree>
</affiliations>
</record>
Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Asie/explor/AustralieFrV1/Data/Main/Exploration
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 002208 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd -nk 002208 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien |wiki= Wicri/Asie |area= AustralieFrV1 |flux= Main |étape= Exploration |type= RBID |clé= PMC:5081057 |texte= Combined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms }}
Pour générer des pages wiki
HfdIndexSelect -h $EXPLOR_AREA/Data/Main/Exploration/RBID.i -Sk "pubmed:27008870" \ | HfdSelect -Kh $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd \ | NlmPubMed2Wicri -a AustralieFrV1
This area was generated with Dilib version V0.6.33. |