The BRCA1 c. 5096G>A p.Arg1699Gln (R1699Q) intermediate risk variant: breast and ovarian cancer risk estimation and recommendations for clinical management from the ENIGMA consortium.
Identifieur interne : 000292 ( Main/Exploration ); précédent : 000291; suivant : 000293The BRCA1 c. 5096G>A p.Arg1699Gln (R1699Q) intermediate risk variant: breast and ovarian cancer risk estimation and recommendations for clinical management from the ENIGMA consortium.
Auteurs : Setareh Moghadasi [Pays-Bas] ; Huong D. Meeks [États-Unis] ; Maaike Pg Vreeswijk [Pays-Bas] ; Linda Am Janssen [Pays-Bas] ; Ke Borg [Suède] ; Hans Ehrencrona [Suède] ; Ylva Paulsson-Karlsson [Suède] ; Barbara Wappenschmidt [Allemagne] ; Christoph Engel [Allemagne] ; Andrea Gehrig [Allemagne] ; Norbert Arnold [Allemagne] ; Thomas Van Overeem Hansen [Danemark] ; Mads Thomassen [Danemark] ; Uffe Birk Jensen [Danemark] ; Torben A. Kruse [Danemark] ; Bent Ejlertsen [Danemark] ; Anne-Marie Gerdes [Danemark] ; Inge S Kilde Pedersen [Danemark] ; Sandrine M. Caputo [France] ; Fergus Couch [États-Unis] ; Emily J. Hallberg [États-Unis] ; Ans Mw Van Den Ouweland [Pays-Bas] ; Margriet J. Collée [Pays-Bas] ; Erik Teugels [Belgique] ; Muriel A. Adank [Pays-Bas] ; Rob B. Van Der Luijt [Pays-Bas] ; Arjen R. Mensenkamp [Pays-Bas] ; Jan C. Oosterwijk [Pays-Bas] ; Marinus J. Blok [Pays-Bas] ; Nicolas Janin [Belgique] ; Kathleen Bm Claes [Belgique] ; Kathy Tucker [Australie] ; Valeria Viassolo [Suisse] ; Amanda Ewart Toland [États-Unis] ; Diana E. Eccles [Royaume-Uni] ; Peter Devilee [Pays-Bas] ; Christie J. Van Asperen [Pays-Bas] ; Amanda B. Spurdle [Australie] ; David E. Goldgar [États-Unis] ; Encarna G Mez García [Pays-Bas]Source :
- Journal of medical genetics [ 1468-6244 ] ; 2017.
Abstract
We previously showed that the BRCA1 variant c.5096G>A p.Arg1699Gln (R1699Q) was associated with an intermediate risk of breast cancer (BC) and ovarian cancer (OC). This study aimed to assess these cancer risks for R1699Q carriers in a larger cohort, including follow-up of previously studied families, to further define cancer risks and to propose adjusted clinical management of female BRCA1*R1699Q carriers.
DOI: 10.1136/jmedgenet-2017-104560
PubMed: 28490613
Affiliations:
- Allemagne, Australie, Belgique, Danemark, France, Pays-Bas, Royaume-Uni, Suisse, Suède, États-Unis
- Bavière, District de Basse-Franconie, District de Leipzig, East Middle Sweden, Groningue (province), Hollande-Méridionale, Hollande-Septentrionale, Hovedstaden, Minnesota, Ohio, Région de Bruxelles-Capitale, Saxe (Land), Schleswig-Holstein, Svealand, Utah, Utrecht (province), Île-de-France
- Amsterdam, Bruxelles, Copenhague, Groningue, Groningue (ville), Kiel, Leipzig, Leyde, Paris, Rotterdam, Uppsala, Utrecht, Wurtzbourg
- Université d'Uppsala, Université de Groningue
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Meeks</name><affiliation wicri:level="2"><nlm:affiliation>Huntsman Cancer Institute, University of Utah, Salt Lake City, Utah, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Huntsman Cancer Institute, University of Utah, Salt Lake City, Utah</wicri:regionArea><placeName><region type="state">Utah</region></placeName></affiliation></author><author><name sortKey="Vreeswijk, Maaike Pg" sort="Vreeswijk, Maaike Pg" uniqKey="Vreeswijk M" first="Maaike Pg" last="Vreeswijk">Maaike Pg Vreeswijk</name><affiliation wicri:level="3"><nlm:affiliation>Department of Human Genetics, Leiden University Medical Centre, Leiden, the Netherlands.</nlm:affiliation><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>Department of Human Genetics, Leiden University Medical Centre, Leiden</wicri:regionArea><placeName><settlement type="city">Leyde</settlement><region nuts="2" type="province">Hollande-Méridionale</region></placeName></affiliation></author><author><name sortKey="Janssen, Linda Am" sort="Janssen, Linda Am" uniqKey="Janssen L" first="Linda Am" last="Janssen">Linda Am Janssen</name><affiliation wicri:level="3"><nlm:affiliation>Department of Clinical Genetics, Leiden University Medical Centre, Leiden, the Netherlands.</nlm:affiliation><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>Department of Clinical Genetics, Leiden University Medical Centre, Leiden</wicri:regionArea><placeName><settlement type="city">Leyde</settlement><region nuts="2" type="province">Hollande-Méridionale</region></placeName></affiliation></author><author><name sortKey="Borg, Ke" sort="Borg, Ke" uniqKey="Borg " first=" Ke" last="Borg"> Ke Borg</name><affiliation wicri:level="1"><nlm:affiliation>Division of Oncology, Department of Clinical Sciences, Lund University, Lund, Sweden.</nlm:affiliation><country xml:lang="fr">Suède</country><wicri:regionArea>Division of Oncology, Department of Clinical Sciences, Lund University, Lund</wicri:regionArea><wicri:noRegion>Lund</wicri:noRegion></affiliation></author><author><name sortKey="Ehrencrona, Hans" sort="Ehrencrona, Hans" uniqKey="Ehrencrona H" first="Hans" last="Ehrencrona">Hans Ehrencrona</name><affiliation wicri:level="1"><nlm:affiliation>Department of Clinical Genetics, Lund University, Lund, Sweden.</nlm:affiliation><country xml:lang="fr">Suède</country><wicri:regionArea>Department of Clinical Genetics, Lund University, Lund</wicri:regionArea><wicri:noRegion>Lund</wicri:noRegion></affiliation></author><author><name sortKey="Paulsson Karlsson, Ylva" sort="Paulsson Karlsson, Ylva" uniqKey="Paulsson Karlsson Y" first="Ylva" last="Paulsson-Karlsson">Ylva Paulsson-Karlsson</name><affiliation wicri:level="4"><nlm:affiliation>Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden.</nlm:affiliation><country xml:lang="fr">Suède</country><wicri:regionArea>Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala</wicri:regionArea><orgName type="university">Université d'Uppsala</orgName><placeName><settlement type="city">Uppsala</settlement><region nuts="1">Svealand</region><region nuts="1">East Middle Sweden</region></placeName></affiliation></author><author><name sortKey="Wappenschmidt, Barbara" sort="Wappenschmidt, Barbara" uniqKey="Wappenschmidt B" first="Barbara" last="Wappenschmidt">Barbara Wappenschmidt</name><affiliation wicri:level="1"><nlm:affiliation>Centre of Familial Breast and Ovarian Cancer, University Hospital of Cologne, Cologne, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Centre of Familial Breast and Ovarian Cancer, University Hospital of Cologne, Cologne</wicri:regionArea><wicri:noRegion>Cologne</wicri:noRegion><wicri:noRegion>Cologne</wicri:noRegion><wicri:noRegion>Cologne</wicri:noRegion></affiliation></author><author><name sortKey="Engel, Christoph" sort="Engel, Christoph" uniqKey="Engel C" first="Christoph" last="Engel">Christoph Engel</name><affiliation wicri:level="3"><nlm:affiliation>Institute for Medical Informatics, University of Leipzig, Leipzig, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institute for Medical Informatics, University of Leipzig, Leipzig</wicri:regionArea><placeName><region type="land" nuts="1">Saxe (Land)</region><region type="district" nuts="2">District de Leipzig</region><settlement type="city">Leipzig</settlement></placeName></affiliation></author><author><name sortKey="Gehrig, Andrea" sort="Gehrig, Andrea" uniqKey="Gehrig A" first="Andrea" last="Gehrig">Andrea Gehrig</name><affiliation wicri:level="3"><nlm:affiliation>Centre of Familial Breast and Ovarian Cancer, University Würzburg, Würzburg, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Centre of Familial Breast and Ovarian Cancer, University Würzburg, Würzburg</wicri:regionArea><placeName><region type="land" nuts="1">Bavière</region><region type="district" nuts="2">District de Basse-Franconie</region><settlement type="city">Wurtzbourg</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:affiliation>Department of Gynaecology and Obstetrics, University Hospital of Schleswig-Holstein, Campus Kiel, Christian-Albrechts University Kiel, Kiel, Germany.</nlm:affiliation><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</wicri:regionArea><placeName><region type="land" nuts="2">Schleswig-Holstein</region><settlement type="city">Kiel</settlement></placeName></affiliation></author><author><name sortKey="Hansen, Thomas Van Overeem" sort="Hansen, Thomas Van Overeem" uniqKey="Hansen T" first="Thomas Van Overeem" last="Hansen">Thomas Van Overeem Hansen</name><affiliation wicri:level="3"><nlm:affiliation>Center for Genomic Medicine, University of Copenhagen, Copenhagen, DenmarK.</nlm:affiliation><country xml:lang="fr" wicri:curation="lc">Danemark</country><wicri:regionArea>Center for Genomic Medicine, University of Copenhagen, Copenhagen</wicri:regionArea><placeName><settlement type="city">Copenhague</settlement><region type="région" nuts="2">Hovedstaden</region></placeName></affiliation></author><author><name sortKey="Thomassen, Mads" sort="Thomassen, Mads" uniqKey="Thomassen M" first="Mads" last="Thomassen">Mads Thomassen</name><affiliation wicri:level="1"><nlm:affiliation>Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.</nlm:affiliation><country xml:lang="fr">Danemark</country><wicri:regionArea>Department of Clinical Genetics, Odense University Hospital, Odense</wicri:regionArea><wicri:noRegion>Odense</wicri:noRegion></affiliation></author><author><name sortKey="Jensen, Uffe Birk" sort="Jensen, Uffe Birk" uniqKey="Jensen U" first="Uffe Birk" last="Jensen">Uffe Birk Jensen</name><affiliation wicri:level="1"><nlm:affiliation>Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark.</nlm:affiliation><country xml:lang="fr">Danemark</country><wicri:regionArea>Department of Clinical Genetics, Aarhus University Hospital, Aarhus</wicri:regionArea><wicri:noRegion>Aarhus</wicri:noRegion></affiliation></author><author><name sortKey="Kruse, Torben A" sort="Kruse, Torben A" uniqKey="Kruse T" first="Torben A" last="Kruse">Torben A. Kruse</name><affiliation wicri:level="1"><nlm:affiliation>Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.</nlm:affiliation><country xml:lang="fr">Danemark</country><wicri:regionArea>Department of Clinical Genetics, Odense University Hospital, Odense</wicri:regionArea><wicri:noRegion>Odense</wicri:noRegion></affiliation></author><author><name sortKey="Ejlertsen, Bent" sort="Ejlertsen, Bent" uniqKey="Ejlertsen B" first="Bent" last="Ejlertsen">Bent Ejlertsen</name><affiliation wicri:level="3"><nlm:affiliation>Department of Rigshospitalet, University of Copenhagen, Copenhagen, DenmarK.</nlm:affiliation><country xml:lang="fr" wicri:curation="lc">Danemark</country><wicri:regionArea>Department of Rigshospitalet, University of Copenhagen, Copenhagen</wicri:regionArea><placeName><settlement type="city">Copenhague</settlement><region type="région" nuts="2">Hovedstaden</region></placeName></affiliation></author><author><name sortKey="Gerdes, Anne Marie" sort="Gerdes, Anne Marie" uniqKey="Gerdes A" first="Anne-Marie" last="Gerdes">Anne-Marie Gerdes</name><affiliation wicri:level="3"><nlm:affiliation>Department of Rigshospitalet, University of Copenhagen, Copenhagen, DenmarK.</nlm:affiliation><country xml:lang="fr" wicri:curation="lc">Danemark</country><wicri:regionArea>Department of Rigshospitalet, University of Copenhagen, Copenhagen</wicri:regionArea><placeName><settlement type="city">Copenhague</settlement><region type="région" nuts="2">Hovedstaden</region></placeName></affiliation></author><author><name sortKey="Pedersen, Inge S Kilde" sort="Pedersen, Inge S Kilde" uniqKey="Pedersen I" first="Inge S Kilde" last="Pedersen">Inge S Kilde Pedersen</name><affiliation wicri:level="1"><nlm:affiliation>Section of Molecular Diagnostics, Aalborg University Hospital, Aalborg, Denmark.</nlm:affiliation><country xml:lang="fr">Danemark</country><wicri:regionArea>Section of Molecular Diagnostics, Aalborg University Hospital, Aalborg</wicri:regionArea><wicri:noRegion>Aalborg</wicri:noRegion></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:affiliation>Institut Curie, Service de génétique, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Institut Curie, Service de génétique, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Couch, Fergus" sort="Couch, Fergus" uniqKey="Couch F" first="Fergus" last="Couch">Fergus Couch</name><affiliation wicri:level="2"><nlm:affiliation>Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota</wicri:regionArea><placeName><region type="state">Minnesota</region></placeName></affiliation></author><author><name sortKey="Hallberg, Emily J" sort="Hallberg, Emily J" uniqKey="Hallberg E" first="Emily J" last="Hallberg">Emily J. Hallberg</name><affiliation wicri:level="2"><nlm:affiliation>Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota</wicri:regionArea><placeName><region type="state">Minnesota</region></placeName></affiliation></author><author><name sortKey="Van Den Ouweland, Ans Mw" sort="Van Den Ouweland, Ans Mw" uniqKey="Van Den Ouweland A" first="Ans Mw" last="Van Den Ouweland">Ans Mw Van Den Ouweland</name><affiliation wicri:level="3"><nlm:affiliation>Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, the Netherlands.</nlm:affiliation><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam</wicri:regionArea><placeName><settlement type="city">Rotterdam</settlement><region nuts="2" type="province">Hollande-Méridionale</region></placeName></affiliation></author><author><name sortKey="Collee, Margriet J" sort="Collee, Margriet J" uniqKey="Collee M" first="Margriet J" last="Collée">Margriet J. Collée</name><affiliation wicri:level="3"><nlm:affiliation>Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, the Netherlands.</nlm:affiliation><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam</wicri:regionArea><placeName><settlement type="city">Rotterdam</settlement><region nuts="2" type="province">Hollande-Méridionale</region></placeName></affiliation></author><author><name sortKey="Teugels, Erik" sort="Teugels, Erik" uniqKey="Teugels E" first="Erik" last="Teugels">Erik Teugels</name><affiliation wicri:level="1"><nlm:affiliation>Familial Cancer Clinic and Medical Oncology, University Hospital Brussels, Belgium.</nlm:affiliation><country xml:lang="fr">Belgique</country><wicri:regionArea>Familial Cancer Clinic and Medical Oncology, University Hospital Brussels</wicri:regionArea><wicri:noRegion>University Hospital Brussels</wicri:noRegion></affiliation></author><author><name sortKey="Adank, Muriel A" sort="Adank, Muriel A" uniqKey="Adank M" first="Muriel A" last="Adank">Muriel A. Adank</name><affiliation wicri:level="3"><nlm:affiliation>Department of Clinical Genetics, VU Medical Centre, Amsterdam, the Netherlands.</nlm:affiliation><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>Department of Clinical Genetics, VU Medical Centre, Amsterdam</wicri:regionArea><placeName><settlement type="city">Amsterdam</settlement><region nuts="2" type="province">Hollande-Septentrionale</region></placeName></affiliation></author><author><name sortKey="Van Der Luijt, Rob B" sort="Van Der Luijt, Rob B" uniqKey="Van Der Luijt R" first="Rob B" last="Van Der Luijt">Rob B. Van Der Luijt</name><affiliation wicri:level="3"><nlm:affiliation>Division of Biomedical Genetics, University Medical Centre Utrecht, Utrecht, the Netherlands.</nlm:affiliation><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>Division of Biomedical Genetics, University Medical Centre Utrecht, Utrecht</wicri:regionArea><placeName><settlement type="city">Utrecht</settlement><region nuts="2" type="province">Utrecht (province)</region></placeName></affiliation></author><author><name sortKey="Mensenkamp, Arjen R" sort="Mensenkamp, Arjen R" uniqKey="Mensenkamp A" first="Arjen R" last="Mensenkamp">Arjen R. Mensenkamp</name><affiliation wicri:level="1"><nlm:affiliation>Department of Human Genetics, Radboudumc Nijmegen, the Netherlands.</nlm:affiliation><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>Department of Human Genetics, Radboudumc Nijmegen</wicri:regionArea><wicri:noRegion>Radboudumc Nijmegen</wicri:noRegion></affiliation></author><author><name sortKey="Oosterwijk, Jan C" sort="Oosterwijk, Jan C" uniqKey="Oosterwijk J" first="Jan C" last="Oosterwijk">Jan C. Oosterwijk</name><affiliation wicri:level="4"><nlm:affiliation>Department of Genetics, University of Groningen, University Medical Centre, Groningen, the Netherlands.</nlm:affiliation><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>Department of Genetics, University of Groningen, University Medical Centre, Groningen</wicri:regionArea><placeName><settlement type="city">Groningue</settlement><region nuts="2" type="province">Groningue (province)</region><settlement type="city">Groningue (ville)</settlement></placeName><orgName type="university">Université de Groningue</orgName></affiliation></author><author><name sortKey="Blok, Marinus J" sort="Blok, Marinus J" uniqKey="Blok M" first="Marinus J" last="Blok">Marinus J. Blok</name><affiliation wicri:level="1"><nlm:affiliation>Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, the Netherlands.</nlm:affiliation><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht</wicri:regionArea><wicri:noRegion>Maastricht</wicri:noRegion></affiliation></author><author><name sortKey="Janin, Nicolas" sort="Janin, Nicolas" uniqKey="Janin N" first="Nicolas" last="Janin">Nicolas Janin</name><affiliation wicri:level="3"><nlm:affiliation>Department of Service de Génétique, Cliniques universitaires Saint-Luc, Bruxelles, Belgium.</nlm:affiliation><country xml:lang="fr">Belgique</country><wicri:regionArea>Department of Service de Génétique, Cliniques universitaires Saint-Luc, Bruxelles</wicri:regionArea><placeName><settlement type="city">Bruxelles</settlement><region nuts="2">Région de Bruxelles-Capitale</region></placeName></affiliation></author><author><name sortKey="Claes, Kathleen Bm" sort="Claes, Kathleen Bm" uniqKey="Claes K" first="Kathleen Bm" last="Claes">Kathleen Bm Claes</name><affiliation wicri:level="1"><nlm:affiliation>Centre for Medical Genetics, Ghent University Hospital, Belgium.</nlm:affiliation><country xml:lang="fr">Belgique</country><wicri:regionArea>Centre for Medical Genetics, Ghent University Hospital</wicri:regionArea><wicri:noRegion>Ghent University Hospital</wicri:noRegion></affiliation></author><author><name sortKey="Tucker, Kathy" sort="Tucker, Kathy" uniqKey="Tucker K" first="Kathy" last="Tucker">Kathy Tucker</name><affiliation wicri:level="1"><nlm:affiliation>Hereditary Cancer Service, Prince of Wales (and St George Hospitals) Hospital, Randwick, New South Wales, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Hereditary Cancer Service, Prince of Wales (and St George Hospitals) Hospital, Randwick, New South Wales</wicri:regionArea><wicri:noRegion>New South Wales</wicri:noRegion></affiliation></author><author><name sortKey="Viassolo, Valeria" sort="Viassolo, Valeria" uniqKey="Viassolo V" first="Valeria" last="Viassolo">Valeria Viassolo</name><affiliation wicri:level="1"><nlm:affiliation>Department of Oncogenetics and Cancer Prevention Unit, Geneva University Hospitals, Geneva, Switzerland.</nlm:affiliation><country xml:lang="fr">Suisse</country><wicri:regionArea>Department of Oncogenetics and Cancer Prevention Unit, Geneva University Hospitals, Geneva</wicri:regionArea><wicri:noRegion>Geneva</wicri:noRegion></affiliation></author><author><name sortKey="Toland, Amanda Ewart" sort="Toland, Amanda Ewart" uniqKey="Toland A" first="Amanda Ewart" last="Toland">Amanda Ewart Toland</name><affiliation wicri:level="2"><nlm:affiliation>Department of Cancer Biology and Genetics, The Ohio State University, Columbus, Ohio, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Cancer Biology and Genetics, The Ohio State University, Columbus, Ohio</wicri:regionArea><placeName><region type="state">Ohio</region></placeName></affiliation></author><author><name sortKey="Eccles, Diana E" sort="Eccles, Diana E" uniqKey="Eccles D" first="Diana E" last="Eccles">Diana E. Eccles</name><affiliation wicri:level="1"><nlm:affiliation>Faculty of Medicine, University of Southampton, Southampton, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Faculty of Medicine, University of Southampton, Southampton</wicri:regionArea><wicri:noRegion>Southampton</wicri:noRegion></affiliation></author><author><name sortKey="Devilee, Peter" sort="Devilee, Peter" uniqKey="Devilee P" first="Peter" last="Devilee">Peter Devilee</name><affiliation wicri:level="3"><nlm:affiliation>Department of Human Genetics, Leiden University Medical Centre, Leiden, the Netherlands.</nlm:affiliation><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>Department of Human Genetics, Leiden University Medical Centre, Leiden</wicri:regionArea><placeName><settlement type="city">Leyde</settlement><region nuts="2" type="province">Hollande-Méridionale</region></placeName></affiliation></author><author><name sortKey="Van Asperen, Christie J" sort="Van Asperen, Christie J" uniqKey="Van Asperen C" first="Christie J" last="Van Asperen">Christie J. Van Asperen</name><affiliation wicri:level="3"><nlm:affiliation>Department of Clinical Genetics, Leiden University Medical Centre, Leiden, the Netherlands.</nlm:affiliation><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>Department of Clinical Genetics, Leiden University Medical Centre, Leiden</wicri:regionArea><placeName><settlement type="city">Leyde</settlement><region nuts="2" type="province">Hollande-Méridionale</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:affiliation>Genetics and Computational Biology Division, QIMR Berghofer Medical Research Institute, Herston, Brisbane, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Genetics and Computational Biology Division, QIMR Berghofer Medical Research Institute, Herston, Brisbane</wicri:regionArea><wicri:noRegion>Brisbane</wicri:noRegion></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:affiliation>Huntsman Cancer Institute and Department of Dermatology, University of Utah School of Medicine Salt Lake City, Salt Lake City, Utah, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Huntsman Cancer Institute and Department of Dermatology, University of Utah School of Medicine Salt Lake City, Salt Lake City, Utah</wicri:regionArea><placeName><region type="state">Utah</region></placeName></affiliation></author><author><name sortKey="Garcia, Encarna G Mez" sort="Garcia, Encarna G Mez" uniqKey="Garcia E" first="Encarna G Mez" last="García">Encarna G Mez García</name><affiliation wicri:level="1"><nlm:affiliation>Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, the Netherlands.</nlm:affiliation><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht</wicri:regionArea><wicri:noRegion>Maastricht</wicri:noRegion></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2017">2017</date><idno type="RBID">pubmed:28490613</idno><idno type="pmid">28490613</idno><idno type="doi">10.1136/jmedgenet-2017-104560</idno><idno type="wicri:Area/PubMed/Corpus">000C01</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">000C01</idno><idno type="wicri:Area/PubMed/Curation">000B98</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">000B98</idno><idno type="wicri:Area/PubMed/Checkpoint">000B98</idno><idno type="wicri:explorRef" wicri:stream="Checkpoint" wicri:step="PubMed">000B98</idno><idno type="wicri:Area/Ncbi/Merge">004793</idno><idno type="wicri:Area/Ncbi/Curation">004793</idno><idno type="wicri:Area/Ncbi/Checkpoint">004793</idno><idno type="wicri:Area/Main/Merge">000287</idno><idno type="wicri:Area/Main/Curation">000292</idno><idno type="wicri:Area/Main/Exploration">000292</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">The BRCA1 c. 5096G>A p.Arg1699Gln (R1699Q) intermediate risk variant: breast and ovarian cancer risk estimation and recommendations for clinical management from the ENIGMA consortium.</title><author><name sortKey="Moghadasi, Setareh" sort="Moghadasi, Setareh" uniqKey="Moghadasi S" first="Setareh" last="Moghadasi">Setareh Moghadasi</name><affiliation wicri:level="3"><nlm:affiliation>Department of Clinical Genetics, Leiden University Medical Centre, Leiden, the Netherlands.</nlm:affiliation><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>Department of Clinical Genetics, Leiden University Medical Centre, Leiden</wicri:regionArea><placeName><settlement type="city">Leyde</settlement><region nuts="2" type="province">Hollande-Méridionale</region></placeName></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 wicri:level="2"><nlm:affiliation>Huntsman Cancer Institute, University of Utah, Salt Lake City, Utah, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Huntsman Cancer Institute, University of Utah, Salt Lake City, Utah</wicri:regionArea><placeName><region type="state">Utah</region></placeName></affiliation></author><author><name sortKey="Vreeswijk, Maaike Pg" sort="Vreeswijk, Maaike Pg" uniqKey="Vreeswijk M" first="Maaike Pg" last="Vreeswijk">Maaike Pg Vreeswijk</name><affiliation wicri:level="3"><nlm:affiliation>Department of Human Genetics, Leiden University Medical Centre, Leiden, the Netherlands.</nlm:affiliation><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>Department of Human Genetics, Leiden University Medical Centre, Leiden</wicri:regionArea><placeName><settlement type="city">Leyde</settlement><region nuts="2" type="province">Hollande-Méridionale</region></placeName></affiliation></author><author><name sortKey="Janssen, Linda Am" sort="Janssen, Linda Am" uniqKey="Janssen L" first="Linda Am" last="Janssen">Linda Am Janssen</name><affiliation wicri:level="3"><nlm:affiliation>Department of Clinical Genetics, Leiden University Medical Centre, Leiden, the Netherlands.</nlm:affiliation><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>Department of Clinical Genetics, Leiden University Medical Centre, Leiden</wicri:regionArea><placeName><settlement type="city">Leyde</settlement><region nuts="2" type="province">Hollande-Méridionale</region></placeName></affiliation></author><author><name sortKey="Borg, Ke" sort="Borg, Ke" uniqKey="Borg " first=" Ke" last="Borg"> Ke Borg</name><affiliation wicri:level="1"><nlm:affiliation>Division of Oncology, Department of Clinical Sciences, Lund University, Lund, Sweden.</nlm:affiliation><country xml:lang="fr">Suède</country><wicri:regionArea>Division of Oncology, Department of Clinical Sciences, Lund University, Lund</wicri:regionArea><wicri:noRegion>Lund</wicri:noRegion></affiliation></author><author><name sortKey="Ehrencrona, Hans" sort="Ehrencrona, Hans" uniqKey="Ehrencrona H" first="Hans" last="Ehrencrona">Hans Ehrencrona</name><affiliation wicri:level="1"><nlm:affiliation>Department of Clinical Genetics, Lund University, Lund, Sweden.</nlm:affiliation><country xml:lang="fr">Suède</country><wicri:regionArea>Department of Clinical Genetics, Lund University, Lund</wicri:regionArea><wicri:noRegion>Lund</wicri:noRegion></affiliation></author><author><name sortKey="Paulsson Karlsson, Ylva" sort="Paulsson Karlsson, Ylva" uniqKey="Paulsson Karlsson Y" first="Ylva" last="Paulsson-Karlsson">Ylva Paulsson-Karlsson</name><affiliation wicri:level="4"><nlm:affiliation>Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden.</nlm:affiliation><country xml:lang="fr">Suède</country><wicri:regionArea>Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala</wicri:regionArea><orgName type="university">Université d'Uppsala</orgName><placeName><settlement type="city">Uppsala</settlement><region nuts="1">Svealand</region><region nuts="1">East Middle Sweden</region></placeName></affiliation></author><author><name sortKey="Wappenschmidt, Barbara" sort="Wappenschmidt, Barbara" uniqKey="Wappenschmidt B" first="Barbara" last="Wappenschmidt">Barbara Wappenschmidt</name><affiliation wicri:level="1"><nlm:affiliation>Centre of Familial Breast and Ovarian Cancer, University Hospital of Cologne, Cologne, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Centre of Familial Breast and Ovarian Cancer, University Hospital of Cologne, Cologne</wicri:regionArea><wicri:noRegion>Cologne</wicri:noRegion><wicri:noRegion>Cologne</wicri:noRegion><wicri:noRegion>Cologne</wicri:noRegion></affiliation></author><author><name sortKey="Engel, Christoph" sort="Engel, Christoph" uniqKey="Engel C" first="Christoph" last="Engel">Christoph Engel</name><affiliation wicri:level="3"><nlm:affiliation>Institute for Medical Informatics, University of Leipzig, Leipzig, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institute for Medical Informatics, University of Leipzig, Leipzig</wicri:regionArea><placeName><region type="land" nuts="1">Saxe (Land)</region><region type="district" nuts="2">District de Leipzig</region><settlement type="city">Leipzig</settlement></placeName></affiliation></author><author><name sortKey="Gehrig, Andrea" sort="Gehrig, Andrea" uniqKey="Gehrig A" first="Andrea" last="Gehrig">Andrea Gehrig</name><affiliation wicri:level="3"><nlm:affiliation>Centre of Familial Breast and Ovarian Cancer, University Würzburg, Würzburg, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Centre of Familial Breast and Ovarian Cancer, University Würzburg, Würzburg</wicri:regionArea><placeName><region type="land" nuts="1">Bavière</region><region type="district" nuts="2">District de Basse-Franconie</region><settlement type="city">Wurtzbourg</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:affiliation>Department of Gynaecology and Obstetrics, University Hospital of Schleswig-Holstein, Campus Kiel, Christian-Albrechts University Kiel, Kiel, Germany.</nlm:affiliation><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</wicri:regionArea><placeName><region type="land" nuts="2">Schleswig-Holstein</region><settlement type="city">Kiel</settlement></placeName></affiliation></author><author><name sortKey="Hansen, Thomas Van Overeem" sort="Hansen, Thomas Van Overeem" uniqKey="Hansen T" first="Thomas Van Overeem" last="Hansen">Thomas Van Overeem Hansen</name><affiliation wicri:level="3"><nlm:affiliation>Center for Genomic Medicine, University of Copenhagen, Copenhagen, DenmarK.</nlm:affiliation><country xml:lang="fr" wicri:curation="lc">Danemark</country><wicri:regionArea>Center for Genomic Medicine, University of Copenhagen, Copenhagen</wicri:regionArea><placeName><settlement type="city">Copenhague</settlement><region type="région" nuts="2">Hovedstaden</region></placeName></affiliation></author><author><name sortKey="Thomassen, Mads" sort="Thomassen, Mads" uniqKey="Thomassen M" first="Mads" last="Thomassen">Mads Thomassen</name><affiliation wicri:level="1"><nlm:affiliation>Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.</nlm:affiliation><country xml:lang="fr">Danemark</country><wicri:regionArea>Department of Clinical Genetics, Odense University Hospital, Odense</wicri:regionArea><wicri:noRegion>Odense</wicri:noRegion></affiliation></author><author><name sortKey="Jensen, Uffe Birk" sort="Jensen, Uffe Birk" uniqKey="Jensen U" first="Uffe Birk" last="Jensen">Uffe Birk Jensen</name><affiliation wicri:level="1"><nlm:affiliation>Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark.</nlm:affiliation><country xml:lang="fr">Danemark</country><wicri:regionArea>Department of Clinical Genetics, Aarhus University Hospital, Aarhus</wicri:regionArea><wicri:noRegion>Aarhus</wicri:noRegion></affiliation></author><author><name sortKey="Kruse, Torben A" sort="Kruse, Torben A" uniqKey="Kruse T" first="Torben A" last="Kruse">Torben A. Kruse</name><affiliation wicri:level="1"><nlm:affiliation>Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.</nlm:affiliation><country xml:lang="fr">Danemark</country><wicri:regionArea>Department of Clinical Genetics, Odense University Hospital, Odense</wicri:regionArea><wicri:noRegion>Odense</wicri:noRegion></affiliation></author><author><name sortKey="Ejlertsen, Bent" sort="Ejlertsen, Bent" uniqKey="Ejlertsen B" first="Bent" last="Ejlertsen">Bent Ejlertsen</name><affiliation wicri:level="3"><nlm:affiliation>Department of Rigshospitalet, University of Copenhagen, Copenhagen, DenmarK.</nlm:affiliation><country xml:lang="fr" wicri:curation="lc">Danemark</country><wicri:regionArea>Department of Rigshospitalet, University of Copenhagen, Copenhagen</wicri:regionArea><placeName><settlement type="city">Copenhague</settlement><region type="région" nuts="2">Hovedstaden</region></placeName></affiliation></author><author><name sortKey="Gerdes, Anne Marie" sort="Gerdes, Anne Marie" uniqKey="Gerdes A" first="Anne-Marie" last="Gerdes">Anne-Marie Gerdes</name><affiliation wicri:level="3"><nlm:affiliation>Department of Rigshospitalet, University of Copenhagen, Copenhagen, DenmarK.</nlm:affiliation><country xml:lang="fr" wicri:curation="lc">Danemark</country><wicri:regionArea>Department of Rigshospitalet, University of Copenhagen, Copenhagen</wicri:regionArea><placeName><settlement type="city">Copenhague</settlement><region type="région" nuts="2">Hovedstaden</region></placeName></affiliation></author><author><name sortKey="Pedersen, Inge S Kilde" sort="Pedersen, Inge S Kilde" uniqKey="Pedersen I" first="Inge S Kilde" last="Pedersen">Inge S Kilde Pedersen</name><affiliation wicri:level="1"><nlm:affiliation>Section of Molecular Diagnostics, Aalborg University Hospital, Aalborg, Denmark.</nlm:affiliation><country xml:lang="fr">Danemark</country><wicri:regionArea>Section of Molecular Diagnostics, Aalborg University Hospital, Aalborg</wicri:regionArea><wicri:noRegion>Aalborg</wicri:noRegion></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:affiliation>Institut Curie, Service de génétique, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Institut Curie, Service de génétique, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Couch, Fergus" sort="Couch, Fergus" uniqKey="Couch F" first="Fergus" last="Couch">Fergus Couch</name><affiliation wicri:level="2"><nlm:affiliation>Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota</wicri:regionArea><placeName><region type="state">Minnesota</region></placeName></affiliation></author><author><name sortKey="Hallberg, Emily J" sort="Hallberg, Emily J" uniqKey="Hallberg E" first="Emily J" last="Hallberg">Emily J. Hallberg</name><affiliation wicri:level="2"><nlm:affiliation>Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota</wicri:regionArea><placeName><region type="state">Minnesota</region></placeName></affiliation></author><author><name sortKey="Van Den Ouweland, Ans Mw" sort="Van Den Ouweland, Ans Mw" uniqKey="Van Den Ouweland A" first="Ans Mw" last="Van Den Ouweland">Ans Mw Van Den Ouweland</name><affiliation wicri:level="3"><nlm:affiliation>Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, the Netherlands.</nlm:affiliation><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam</wicri:regionArea><placeName><settlement type="city">Rotterdam</settlement><region nuts="2" type="province">Hollande-Méridionale</region></placeName></affiliation></author><author><name sortKey="Collee, Margriet J" sort="Collee, Margriet J" uniqKey="Collee M" first="Margriet J" last="Collée">Margriet J. Collée</name><affiliation wicri:level="3"><nlm:affiliation>Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, the Netherlands.</nlm:affiliation><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam</wicri:regionArea><placeName><settlement type="city">Rotterdam</settlement><region nuts="2" type="province">Hollande-Méridionale</region></placeName></affiliation></author><author><name sortKey="Teugels, Erik" sort="Teugels, Erik" uniqKey="Teugels E" first="Erik" last="Teugels">Erik Teugels</name><affiliation wicri:level="1"><nlm:affiliation>Familial Cancer Clinic and Medical Oncology, University Hospital Brussels, Belgium.</nlm:affiliation><country xml:lang="fr">Belgique</country><wicri:regionArea>Familial Cancer Clinic and Medical Oncology, University Hospital Brussels</wicri:regionArea><wicri:noRegion>University Hospital Brussels</wicri:noRegion></affiliation></author><author><name sortKey="Adank, Muriel A" sort="Adank, Muriel A" uniqKey="Adank M" first="Muriel A" last="Adank">Muriel A. Adank</name><affiliation wicri:level="3"><nlm:affiliation>Department of Clinical Genetics, VU Medical Centre, Amsterdam, the Netherlands.</nlm:affiliation><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>Department of Clinical Genetics, VU Medical Centre, Amsterdam</wicri:regionArea><placeName><settlement type="city">Amsterdam</settlement><region nuts="2" type="province">Hollande-Septentrionale</region></placeName></affiliation></author><author><name sortKey="Van Der Luijt, Rob B" sort="Van Der Luijt, Rob B" uniqKey="Van Der Luijt R" first="Rob B" last="Van Der Luijt">Rob B. Van Der Luijt</name><affiliation wicri:level="3"><nlm:affiliation>Division of Biomedical Genetics, University Medical Centre Utrecht, Utrecht, the Netherlands.</nlm:affiliation><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>Division of Biomedical Genetics, University Medical Centre Utrecht, Utrecht</wicri:regionArea><placeName><settlement type="city">Utrecht</settlement><region nuts="2" type="province">Utrecht (province)</region></placeName></affiliation></author><author><name sortKey="Mensenkamp, Arjen R" sort="Mensenkamp, Arjen R" uniqKey="Mensenkamp A" first="Arjen R" last="Mensenkamp">Arjen R. Mensenkamp</name><affiliation wicri:level="1"><nlm:affiliation>Department of Human Genetics, Radboudumc Nijmegen, the Netherlands.</nlm:affiliation><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>Department of Human Genetics, Radboudumc Nijmegen</wicri:regionArea><wicri:noRegion>Radboudumc Nijmegen</wicri:noRegion></affiliation></author><author><name sortKey="Oosterwijk, Jan C" sort="Oosterwijk, Jan C" uniqKey="Oosterwijk J" first="Jan C" last="Oosterwijk">Jan C. Oosterwijk</name><affiliation wicri:level="4"><nlm:affiliation>Department of Genetics, University of Groningen, University Medical Centre, Groningen, the Netherlands.</nlm:affiliation><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>Department of Genetics, University of Groningen, University Medical Centre, Groningen</wicri:regionArea><placeName><settlement type="city">Groningue</settlement><region nuts="2" type="province">Groningue (province)</region><settlement type="city">Groningue (ville)</settlement></placeName><orgName type="university">Université de Groningue</orgName></affiliation></author><author><name sortKey="Blok, Marinus J" sort="Blok, Marinus J" uniqKey="Blok M" first="Marinus J" last="Blok">Marinus J. Blok</name><affiliation wicri:level="1"><nlm:affiliation>Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, the Netherlands.</nlm:affiliation><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht</wicri:regionArea><wicri:noRegion>Maastricht</wicri:noRegion></affiliation></author><author><name sortKey="Janin, Nicolas" sort="Janin, Nicolas" uniqKey="Janin N" first="Nicolas" last="Janin">Nicolas Janin</name><affiliation wicri:level="3"><nlm:affiliation>Department of Service de Génétique, Cliniques universitaires Saint-Luc, Bruxelles, Belgium.</nlm:affiliation><country xml:lang="fr">Belgique</country><wicri:regionArea>Department of Service de Génétique, Cliniques universitaires Saint-Luc, Bruxelles</wicri:regionArea><placeName><settlement type="city">Bruxelles</settlement><region nuts="2">Région de Bruxelles-Capitale</region></placeName></affiliation></author><author><name sortKey="Claes, Kathleen Bm" sort="Claes, Kathleen Bm" uniqKey="Claes K" first="Kathleen Bm" last="Claes">Kathleen Bm Claes</name><affiliation wicri:level="1"><nlm:affiliation>Centre for Medical Genetics, Ghent University Hospital, Belgium.</nlm:affiliation><country xml:lang="fr">Belgique</country><wicri:regionArea>Centre for Medical Genetics, Ghent University Hospital</wicri:regionArea><wicri:noRegion>Ghent University Hospital</wicri:noRegion></affiliation></author><author><name sortKey="Tucker, Kathy" sort="Tucker, Kathy" uniqKey="Tucker K" first="Kathy" last="Tucker">Kathy Tucker</name><affiliation wicri:level="1"><nlm:affiliation>Hereditary Cancer Service, Prince of Wales (and St George Hospitals) Hospital, Randwick, New South Wales, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Hereditary Cancer Service, Prince of Wales (and St George Hospitals) Hospital, Randwick, New South Wales</wicri:regionArea><wicri:noRegion>New South Wales</wicri:noRegion></affiliation></author><author><name sortKey="Viassolo, Valeria" sort="Viassolo, Valeria" uniqKey="Viassolo V" first="Valeria" last="Viassolo">Valeria Viassolo</name><affiliation wicri:level="1"><nlm:affiliation>Department of Oncogenetics and Cancer Prevention Unit, Geneva University Hospitals, Geneva, Switzerland.</nlm:affiliation><country xml:lang="fr">Suisse</country><wicri:regionArea>Department of Oncogenetics and Cancer Prevention Unit, Geneva University Hospitals, Geneva</wicri:regionArea><wicri:noRegion>Geneva</wicri:noRegion></affiliation></author><author><name sortKey="Toland, Amanda Ewart" sort="Toland, Amanda Ewart" uniqKey="Toland A" first="Amanda Ewart" last="Toland">Amanda Ewart Toland</name><affiliation wicri:level="2"><nlm:affiliation>Department of Cancer Biology and Genetics, The Ohio State University, Columbus, Ohio, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Cancer Biology and Genetics, The Ohio State University, Columbus, Ohio</wicri:regionArea><placeName><region type="state">Ohio</region></placeName></affiliation></author><author><name sortKey="Eccles, Diana E" sort="Eccles, Diana E" uniqKey="Eccles D" first="Diana E" last="Eccles">Diana E. Eccles</name><affiliation wicri:level="1"><nlm:affiliation>Faculty of Medicine, University of Southampton, Southampton, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Faculty of Medicine, University of Southampton, Southampton</wicri:regionArea><wicri:noRegion>Southampton</wicri:noRegion></affiliation></author><author><name sortKey="Devilee, Peter" sort="Devilee, Peter" uniqKey="Devilee P" first="Peter" last="Devilee">Peter Devilee</name><affiliation wicri:level="3"><nlm:affiliation>Department of Human Genetics, Leiden University Medical Centre, Leiden, the Netherlands.</nlm:affiliation><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>Department of Human Genetics, Leiden University Medical Centre, Leiden</wicri:regionArea><placeName><settlement type="city">Leyde</settlement><region nuts="2" type="province">Hollande-Méridionale</region></placeName></affiliation></author><author><name sortKey="Van Asperen, Christie J" sort="Van Asperen, Christie J" uniqKey="Van Asperen C" first="Christie J" last="Van Asperen">Christie J. Van Asperen</name><affiliation wicri:level="3"><nlm:affiliation>Department of Clinical Genetics, Leiden University Medical Centre, Leiden, the Netherlands.</nlm:affiliation><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>Department of Clinical Genetics, Leiden University Medical Centre, Leiden</wicri:regionArea><placeName><settlement type="city">Leyde</settlement><region nuts="2" type="province">Hollande-Méridionale</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:affiliation>Genetics and Computational Biology Division, QIMR Berghofer Medical Research Institute, Herston, Brisbane, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Genetics and Computational Biology Division, QIMR Berghofer Medical Research Institute, Herston, Brisbane</wicri:regionArea><wicri:noRegion>Brisbane</wicri:noRegion></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:affiliation>Huntsman Cancer Institute and Department of Dermatology, University of Utah School of Medicine Salt Lake City, Salt Lake City, Utah, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Huntsman Cancer Institute and Department of Dermatology, University of Utah School of Medicine Salt Lake City, Salt Lake City, Utah</wicri:regionArea><placeName><region type="state">Utah</region></placeName></affiliation></author><author><name sortKey="Garcia, Encarna G Mez" sort="Garcia, Encarna G Mez" uniqKey="Garcia E" first="Encarna G Mez" last="García">Encarna G Mez García</name><affiliation wicri:level="1"><nlm:affiliation>Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, the Netherlands.</nlm:affiliation><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht</wicri:regionArea><wicri:noRegion>Maastricht</wicri:noRegion></affiliation></author></analytic><series><title level="j">Journal of medical genetics</title><idno type="eISSN">1468-6244</idno><imprint><date when="2017" type="published">2017</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">We previously showed that the BRCA1 variant c.5096G>A p.Arg1699Gln (R1699Q) was associated with an intermediate risk of breast cancer (BC) and ovarian cancer (OC). This study aimed to assess these cancer risks for R1699Q carriers in a larger cohort, including follow-up of previously studied families, to further define cancer risks and to propose adjusted clinical management of female BRCA1*R1699Q carriers.</div></front></TEI><affiliations><list><country><li>Allemagne</li><li>Australie</li><li>Belgique</li><li>Danemark</li><li>France</li><li>Pays-Bas</li><li>Royaume-Uni</li><li>Suisse</li><li>Suède</li><li>États-Unis</li></country><region><li>Bavière</li><li>District de Basse-Franconie</li><li>District de Leipzig</li><li>East Middle Sweden</li><li>Groningue (province)</li><li>Hollande-Méridionale</li><li>Hollande-Septentrionale</li><li>Hovedstaden</li><li>Minnesota</li><li>Ohio</li><li>Région de Bruxelles-Capitale</li><li>Saxe (Land)</li><li>Schleswig-Holstein</li><li>Svealand</li><li>Utah</li><li>Utrecht (province)</li><li>Île-de-France</li></region><settlement><li>Amsterdam</li><li>Bruxelles</li><li>Copenhague</li><li>Groningue</li><li>Groningue (ville)</li><li>Kiel</li><li>Leipzig</li><li>Leyde</li><li>Paris</li><li>Rotterdam</li><li>Uppsala</li><li>Utrecht</li><li>Wurtzbourg</li></settlement><orgName><li>Université d'Uppsala</li><li>Université de Groningue</li></orgName></list><tree><country name="Pays-Bas"><region name="Hollande-Méridionale"><name sortKey="Moghadasi, Setareh" sort="Moghadasi, Setareh" uniqKey="Moghadasi S" first="Setareh" last="Moghadasi">Setareh Moghadasi</name></region><name sortKey="Adank, Muriel A" sort="Adank, Muriel A" uniqKey="Adank M" first="Muriel A" last="Adank">Muriel A. Adank</name><name sortKey="Blok, Marinus J" sort="Blok, Marinus J" uniqKey="Blok M" first="Marinus J" last="Blok">Marinus J. Blok</name><name sortKey="Collee, Margriet J" sort="Collee, Margriet J" uniqKey="Collee M" first="Margriet J" last="Collée">Margriet J. Collée</name><name sortKey="Devilee, Peter" sort="Devilee, Peter" uniqKey="Devilee P" first="Peter" last="Devilee">Peter Devilee</name><name sortKey="Garcia, Encarna G Mez" sort="Garcia, Encarna G Mez" uniqKey="Garcia E" first="Encarna G Mez" last="García">Encarna G Mez García</name><name sortKey="Janssen, Linda Am" sort="Janssen, Linda Am" uniqKey="Janssen L" first="Linda Am" last="Janssen">Linda Am Janssen</name><name sortKey="Mensenkamp, Arjen R" sort="Mensenkamp, Arjen R" uniqKey="Mensenkamp A" first="Arjen R" last="Mensenkamp">Arjen R. Mensenkamp</name><name sortKey="Oosterwijk, Jan C" sort="Oosterwijk, Jan C" uniqKey="Oosterwijk J" first="Jan C" last="Oosterwijk">Jan C. Oosterwijk</name><name sortKey="Van Asperen, Christie J" sort="Van Asperen, Christie J" uniqKey="Van Asperen C" first="Christie J" last="Van Asperen">Christie J. Van Asperen</name><name sortKey="Van Den Ouweland, Ans Mw" sort="Van Den Ouweland, Ans Mw" uniqKey="Van Den Ouweland A" first="Ans Mw" last="Van Den Ouweland">Ans Mw Van Den Ouweland</name><name sortKey="Van Der Luijt, Rob B" sort="Van Der Luijt, Rob B" uniqKey="Van Der Luijt R" first="Rob B" last="Van Der Luijt">Rob B. Van Der Luijt</name><name sortKey="Vreeswijk, Maaike Pg" sort="Vreeswijk, Maaike Pg" uniqKey="Vreeswijk M" first="Maaike Pg" last="Vreeswijk">Maaike Pg Vreeswijk</name></country><country name="États-Unis"><region name="Utah"><name sortKey="Meeks, Huong D" sort="Meeks, Huong D" uniqKey="Meeks H" first="Huong D" last="Meeks">Huong D. Meeks</name></region><name sortKey="Couch, Fergus" sort="Couch, Fergus" uniqKey="Couch F" first="Fergus" last="Couch">Fergus 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 J" sort="Hallberg, Emily J" uniqKey="Hallberg E" first="Emily J" last="Hallberg">Emily J. Hallberg</name><name sortKey="Toland, Amanda Ewart" sort="Toland, Amanda Ewart" uniqKey="Toland A" first="Amanda Ewart" last="Toland">Amanda Ewart Toland</name></country><country name="Suède"><noRegion><name sortKey="Borg, Ke" sort="Borg, Ke" uniqKey="Borg " first=" Ke" last="Borg"> Ke Borg</name></noRegion><name sortKey="Ehrencrona, Hans" sort="Ehrencrona, Hans" uniqKey="Ehrencrona H" first="Hans" last="Ehrencrona">Hans Ehrencrona</name><name sortKey="Paulsson Karlsson, Ylva" sort="Paulsson Karlsson, Ylva" uniqKey="Paulsson Karlsson Y" first="Ylva" last="Paulsson-Karlsson">Ylva Paulsson-Karlsson</name></country><country name="Allemagne"><noRegion><name sortKey="Wappenschmidt, Barbara" sort="Wappenschmidt, Barbara" uniqKey="Wappenschmidt B" first="Barbara" last="Wappenschmidt">Barbara Wappenschmidt</name></noRegion><name sortKey="Arnold, Norbert" sort="Arnold, Norbert" uniqKey="Arnold N" first="Norbert" last="Arnold">Norbert Arnold</name><name sortKey="Engel, Christoph" sort="Engel, Christoph" uniqKey="Engel C" first="Christoph" last="Engel">Christoph Engel</name><name sortKey="Gehrig, Andrea" sort="Gehrig, Andrea" uniqKey="Gehrig A" first="Andrea" last="Gehrig">Andrea Gehrig</name></country><country name="Danemark"><region name="Hovedstaden"><name sortKey="Hansen, Thomas Van Overeem" sort="Hansen, Thomas Van Overeem" uniqKey="Hansen T" first="Thomas Van Overeem" last="Hansen">Thomas Van Overeem Hansen</name></region><name sortKey="Ejlertsen, Bent" sort="Ejlertsen, Bent" uniqKey="Ejlertsen B" first="Bent" last="Ejlertsen">Bent Ejlertsen</name><name sortKey="Gerdes, Anne Marie" sort="Gerdes, Anne Marie" uniqKey="Gerdes A" first="Anne-Marie" last="Gerdes">Anne-Marie Gerdes</name><name sortKey="Jensen, Uffe Birk" sort="Jensen, Uffe Birk" uniqKey="Jensen U" first="Uffe Birk" last="Jensen">Uffe Birk Jensen</name><name sortKey="Kruse, Torben A" sort="Kruse, Torben A" uniqKey="Kruse T" first="Torben A" last="Kruse">Torben A. Kruse</name><name sortKey="Pedersen, Inge S Kilde" sort="Pedersen, Inge S Kilde" uniqKey="Pedersen I" first="Inge S Kilde" last="Pedersen">Inge S Kilde Pedersen</name><name sortKey="Thomassen, Mads" sort="Thomassen, Mads" uniqKey="Thomassen M" first="Mads" last="Thomassen">Mads Thomassen</name></country><country name="France"><region name="Île-de-France"><name sortKey="Caputo, Sandrine M" sort="Caputo, Sandrine M" uniqKey="Caputo S" first="Sandrine M" last="Caputo">Sandrine M. Caputo</name></region></country><country name="Belgique"><noRegion><name sortKey="Teugels, Erik" sort="Teugels, Erik" uniqKey="Teugels E" first="Erik" last="Teugels">Erik Teugels</name></noRegion><name sortKey="Claes, Kathleen Bm" sort="Claes, Kathleen Bm" uniqKey="Claes K" first="Kathleen Bm" last="Claes">Kathleen Bm Claes</name><name sortKey="Janin, Nicolas" sort="Janin, Nicolas" uniqKey="Janin N" first="Nicolas" last="Janin">Nicolas Janin</name></country><country name="Australie"><noRegion><name sortKey="Tucker, Kathy" sort="Tucker, Kathy" uniqKey="Tucker K" first="Kathy" last="Tucker">Kathy Tucker</name></noRegion><name sortKey="Spurdle, Amanda B" sort="Spurdle, Amanda B" uniqKey="Spurdle A" first="Amanda B" last="Spurdle">Amanda B. Spurdle</name></country><country name="Suisse"><noRegion><name sortKey="Viassolo, Valeria" sort="Viassolo, Valeria" uniqKey="Viassolo V" first="Valeria" last="Viassolo">Valeria Viassolo</name></noRegion></country><country name="Royaume-Uni"><noRegion><name sortKey="Eccles, Diana E" sort="Eccles, Diana E" uniqKey="Eccles D" first="Diana E" last="Eccles">Diana E. Eccles</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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