Germline CDKN2A/P16INK4A mutations contribute to genetic determinism of sarcoma.
Identifieur interne : 000B55 ( PubMed/Checkpoint ); précédent : 000B54; suivant : 000B56Germline CDKN2A/P16INK4A mutations contribute to genetic determinism of sarcoma.
Auteurs : Fanélie Jouenne [France] ; Isaure Chauvot De Beauchene [Allemagne] ; Emeline Bollaert [Belgique] ; Marie-Françoise Avril [France] ; Olivier Caron [France] ; Olivier Ingster [France] ; Axel Lecesne [France] ; Patrick Benusiglio [France] ; Philippe Terrier [France] ; Vincent Caumette [France] ; Daniel Pissaloux [France] ; Arnaud De La Fouchardière [France] ; Odile Cabaret [France] ; Birama N'Diaye [France] ; Amélie Velghe [Belgique] ; Gaelle Bougeard [France] ; Graham J. Mann [Australie] ; Serge Koscielny [France] ; Jennifer H. Barrett [Royaume-Uni] ; Mark Harland [Royaume-Uni] ; Julia Newton-Bishop [Royaume-Uni] ; Nelleke Gruis [Pays-Bas] ; Remco Van Doorn [Pays-Bas] ; Marion Gauthier-Villars [France] ; Gaelle Pierron [France] ; Dominique Stoppa-Lyonnet [France] ; Isabelle Coupier [France] ; Rosine Guimbaud [France] ; Capucine Delnatte [France] ; Jean-Yves Scoazec [France] ; Alexander M. Eggermont [France] ; Jean Feunteun [France] ; Luba Tchertanov [France] ; Jean-Baptiste Demoulin [Belgique] ; Thierry Frebourg [France] ; Brigitte Bressac-De Paillerets [France]Source :
- Journal of medical genetics [ 1468-6244 ] ; 2017.
Abstract
Sarcomas are rare mesenchymal malignancies whose pathogenesis is poorly understood; both environmental and genetic risk factors could contribute to their aetiology.
DOI: 10.1136/jmedgenet-2016-104402
PubMed: 28592523
Affiliations:
- Allemagne, Australie, Belgique, France, Pays-Bas, Royaume-Uni
- Angleterre, Bavière, District de Haute-Bavière, Haute-Normandie, Hollande-Méridionale, Languedoc-Roussillon, Midi-Pyrénées, Occitanie (région administrative), Pays de la Loire, Région Normandie, Région de Bruxelles-Capitale, Yorkshire-et-Humber, Île-de-France
- Angers, Bruxelles, Leeds, Leyde, Louvain-la-Neuve, Montpellier, Munich, Paris, Rouen, Toulouse
- Université Louis-et-Maximilien de Munich, Université catholique de Louvain, Université de Leeds
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pubmed:28592523Le document en format XML
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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="Mann, Graham J" sort="Mann, Graham J" uniqKey="Mann G" first="Graham J" last="Mann">Graham J. Mann</name><affiliation wicri:level="1"><nlm:affiliation>Centre for Cancer Research, Weastmead Institute for Medical Research and Melanoma Institute, Sydney, New South Wales, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Centre for Cancer Research, Weastmead Institute for Medical Research and Melanoma Institute, Sydney, New South Wales</wicri:regionArea><wicri:noRegion>New South Wales</wicri:noRegion></affiliation></author><author><name sortKey="Koscielny, Serge" sort="Koscielny, Serge" uniqKey="Koscielny S" first="Serge" last="Koscielny">Serge Koscielny</name><affiliation wicri:level="1"><nlm:affiliation>Service de Biostatistiques et d'Epidemiologie, Gustave Roussy, Villejuif, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Service de Biostatistiques et d'Epidemiologie, Gustave Roussy, Villejuif</wicri:regionArea><wicri:noRegion>Villejuif</wicri:noRegion><wicri:noRegion>Villejuif</wicri:noRegion></affiliation></author><author><name sortKey="Barrett, Jennifer H" sort="Barrett, Jennifer H" uniqKey="Barrett J" first="Jennifer H" last="Barrett">Jennifer H. Barrett</name><affiliation wicri:level="4"><nlm:affiliation>Section of Epidemiology and Biostatistics, Leeds Institute of Cancer and Pathology, University of Leeds, Leeds, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Section of Epidemiology and Biostatistics, Leeds Institute of Cancer and Pathology, University of Leeds, Leeds</wicri:regionArea><orgName type="university">Université de Leeds</orgName><placeName><settlement type="city">Leeds</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Yorkshire-et-Humber</region></placeName></affiliation></author><author><name sortKey="Harland, Mark" sort="Harland, Mark" uniqKey="Harland M" first="Mark" last="Harland">Mark Harland</name><affiliation wicri:level="4"><nlm:affiliation>Section of Epidemiology and Biostatistics, Leeds Institute of Cancer and Pathology, University of Leeds, Leeds, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Section of Epidemiology and Biostatistics, Leeds Institute of Cancer and Pathology, University of Leeds, Leeds</wicri:regionArea><orgName type="university">Université de Leeds</orgName><placeName><settlement type="city">Leeds</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Yorkshire-et-Humber</region></placeName></affiliation></author><author><name sortKey="Newton Bishop, Julia" sort="Newton Bishop, Julia" uniqKey="Newton Bishop J" first="Julia" last="Newton-Bishop">Julia Newton-Bishop</name><affiliation wicri:level="4"><nlm:affiliation>Section of Epidemiology and Biostatistics, Leeds Institute of Cancer and Pathology, University of Leeds, Leeds, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Section of Epidemiology and Biostatistics, Leeds Institute of Cancer and Pathology, University of Leeds, Leeds</wicri:regionArea><orgName type="university">Université de Leeds</orgName><placeName><settlement type="city">Leeds</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Yorkshire-et-Humber</region></placeName></affiliation></author><author><name sortKey="Gruis, Nelleke" sort="Gruis, Nelleke" uniqKey="Gruis N" first="Nelleke" last="Gruis">Nelleke Gruis</name><affiliation wicri:level="3"><nlm:affiliation>Department of Dermatology, Leiden University Medical Center, Leiden, The Netherlands.</nlm:affiliation><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Dermatology, Leiden University Medical Center, Leiden</wicri:regionArea><placeName><settlement type="city">Leyde</settlement><region nuts="2" type="province">Hollande-Méridionale</region></placeName></affiliation></author><author><name sortKey="Van Doorn, Remco" sort="Van Doorn, Remco" uniqKey="Van Doorn R" first="Remco" last="Van Doorn">Remco Van Doorn</name><affiliation wicri:level="3"><nlm:affiliation>Department of Dermatology, Leiden University Medical Center, Leiden, The Netherlands.</nlm:affiliation><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Dermatology, Leiden University Medical Center, Leiden</wicri:regionArea><placeName><settlement type="city">Leyde</settlement><region nuts="2" type="province">Hollande-Méridionale</region></placeName></affiliation></author><author><name sortKey="Gauthier Villars, Marion" sort="Gauthier Villars, Marion" uniqKey="Gauthier Villars M" first="Marion" last="Gauthier-Villars">Marion Gauthier-Villars</name><affiliation wicri:level="3"><nlm:affiliation>Institut Curie Hospital Group, Service de Génétique, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Institut Curie Hospital Group, 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="Pierron, Gaelle" sort="Pierron, Gaelle" uniqKey="Pierron G" first="Gaelle" last="Pierron">Gaelle Pierron</name><affiliation wicri:level="3"><nlm:affiliation>Institut Curie Hospital Group, Service de Génétique, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Institut Curie Hospital Group, 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="Stoppa Lyonnet, Dominique" sort="Stoppa Lyonnet, Dominique" uniqKey="Stoppa Lyonnet D" first="Dominique" last="Stoppa-Lyonnet">Dominique Stoppa-Lyonnet</name><affiliation wicri:level="3"><nlm:affiliation>Institut Curie Hospital Group, Service de Génétique, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Institut Curie Hospital Group, 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="Coupier, Isabelle" sort="Coupier, Isabelle" uniqKey="Coupier I" first="Isabelle" last="Coupier">Isabelle Coupier</name><affiliation wicri:level="3"><nlm:affiliation>Hopital Arnaud de Villeneuve, Service de Génétique Médicale et Oncogénétique, CHU de Montpellier, Montpellier, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Hopital Arnaud de Villeneuve, Service de Génétique Médicale et Oncogénétique, CHU de Montpellier, Montpellier</wicri:regionArea><placeName><region type="region">Occitanie (région administrative)</region><region type="old region">Languedoc-Roussillon</region><settlement type="city">Montpellier</settlement></placeName></affiliation></author><author><name sortKey="Guimbaud, Rosine" sort="Guimbaud, Rosine" uniqKey="Guimbaud R" first="Rosine" last="Guimbaud">Rosine Guimbaud</name><affiliation wicri:level="3"><nlm:affiliation>Toulouse University Hospital, Toulouse, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Toulouse University Hospital, Toulouse</wicri:regionArea><placeName><region type="region">Occitanie (région administrative)</region><region type="old region">Midi-Pyrénées</region><settlement type="city">Toulouse</settlement></placeName></affiliation></author><author><name sortKey="Delnatte, Capucine" sort="Delnatte, Capucine" uniqKey="Delnatte C" first="Capucine" last="Delnatte">Capucine Delnatte</name><affiliation wicri:level="1"><nlm:affiliation>Unité d'Oncogénétique, Centre René Gauducheau, Nantes Saint Herblain, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Unité d'Oncogénétique, Centre René Gauducheau, Nantes Saint Herblain</wicri:regionArea><wicri:noRegion>Nantes Saint Herblain</wicri:noRegion><wicri:noRegion>Nantes Saint Herblain</wicri:noRegion></affiliation></author><author><name sortKey="Scoazec, Jean Yves" sort="Scoazec, Jean Yves" uniqKey="Scoazec J" first="Jean-Yves" last="Scoazec">Jean-Yves Scoazec</name><affiliation wicri:level="1"><nlm:affiliation>Département de Biologie et Pathologie Médicales, Gustave Roussy, Université Paris-Saclay, Villejuif, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Département de Biologie et Pathologie Médicales, Gustave Roussy, Université Paris-Saclay, Villejuif</wicri:regionArea><wicri:noRegion>Villejuif</wicri:noRegion><wicri:noRegion>Villejuif</wicri:noRegion></affiliation></author><author><name sortKey="Eggermont, Alexander M" sort="Eggermont, Alexander M" uniqKey="Eggermont A" first="Alexander M" last="Eggermont">Alexander M. Eggermont</name><affiliation wicri:level="1"><nlm:affiliation>INSERM U1015 and Faculté de médecine, Gustave Roussy, Université Paris-Saclay, Villejuif, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>INSERM U1015 and Faculté de médecine, Gustave Roussy, Université Paris-Saclay, Villejuif</wicri:regionArea><wicri:noRegion>Villejuif</wicri:noRegion><wicri:noRegion>Villejuif</wicri:noRegion></affiliation></author><author><name sortKey="Feunteun, Jean" sort="Feunteun, Jean" uniqKey="Feunteun J" first="Jean" last="Feunteun">Jean Feunteun</name><affiliation wicri:level="1"><nlm:affiliation>CNRS UMR8200, Gustave Roussy, Université Paris-Saclay, Villejuif, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>CNRS UMR8200, Gustave Roussy, Université Paris-Saclay, Villejuif</wicri:regionArea><wicri:noRegion>Villejuif</wicri:noRegion><wicri:noRegion>Villejuif</wicri:noRegion></affiliation></author><author><name sortKey="Tchertanov, Luba" sort="Tchertanov, Luba" uniqKey="Tchertanov L" first="Luba" last="Tchertanov">Luba Tchertanov</name><affiliation wicri:level="1"><nlm:affiliation>Centre de Mathématiques et de leurs applications, Ecole Normale Supérieure de Cachan, Université Paris-Saclay, Cachan, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Centre de Mathématiques et de leurs applications, Ecole Normale Supérieure de Cachan, Université Paris-Saclay, Cachan</wicri:regionArea><wicri:noRegion>Cachan</wicri:noRegion><wicri:noRegion>Cachan</wicri:noRegion></affiliation></author><author><name sortKey="Demoulin, Jean Baptiste" sort="Demoulin, Jean Baptiste" uniqKey="Demoulin J" first="Jean-Baptiste" last="Demoulin">Jean-Baptiste Demoulin</name><affiliation wicri:level="4"><nlm:affiliation>De Duve Institute, Université Catholique de Louvain, Brussels, Belgium.</nlm:affiliation><country xml:lang="fr">Belgique</country><wicri:regionArea>De Duve Institute, Université Catholique de Louvain, Brussels</wicri:regionArea><placeName><settlement type="city">Bruxelles</settlement><region nuts="2">Région de Bruxelles-Capitale</region><settlement type="city">Louvain-la-Neuve</settlement></placeName><orgName type="university">Université catholique de Louvain</orgName></affiliation></author><author><name sortKey="Frebourg, Thierry" sort="Frebourg, Thierry" uniqKey="Frebourg T" first="Thierry" last="Frebourg">Thierry Frebourg</name><affiliation wicri:level="3"><nlm:affiliation>Faculty of Medicine, INSERM U1079, Normandy University, Rouen, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Faculty of Medicine, INSERM U1079, Normandy University, 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="Bressac De Paillerets, Brigitte" sort="Bressac De Paillerets, Brigitte" uniqKey="Bressac De Paillerets B" first="Brigitte" last="Bressac-De Paillerets">Brigitte Bressac-De Paillerets</name><affiliation wicri:level="1"><nlm:affiliation>Département de Biologie et Pathologie Médicales, Gustave Roussy, Université Paris-Saclay, Villejuif, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Département de Biologie et Pathologie Médicales, Gustave Roussy, Université Paris-Saclay, Villejuif</wicri:regionArea><wicri:noRegion>Villejuif</wicri:noRegion><wicri:noRegion>Villejuif</wicri:noRegion></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2017">2017</date><idno type="RBID">pubmed:28592523</idno><idno type="pmid">28592523</idno><idno type="doi">10.1136/jmedgenet-2016-104402</idno><idno type="wicri:Area/PubMed/Corpus">000645</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">000645</idno><idno type="wicri:Area/PubMed/Curation">000643</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">000643</idno><idno type="wicri:Area/PubMed/Checkpoint">000643</idno><idno type="wicri:explorRef" wicri:stream="Checkpoint" wicri:step="PubMed">000643</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Germline CDKN2A/P16INK4A mutations contribute to genetic determinism of sarcoma.</title><author><name sortKey="Jouenne, Fanelie" sort="Jouenne, Fanelie" uniqKey="Jouenne F" first="Fanélie" last="Jouenne">Fanélie Jouenne</name><affiliation wicri:level="1"><nlm:affiliation>Département de Biologie et Pathologie Médicales, Gustave Roussy, Université Paris-Saclay, Villejuif, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Département de Biologie et Pathologie Médicales, Gustave Roussy, Université Paris-Saclay, Villejuif</wicri:regionArea><wicri:noRegion>Villejuif</wicri:noRegion><wicri:noRegion>Villejuif</wicri:noRegion></affiliation></author><author><name sortKey="Chauvot De Beauchene, Isaure" sort="Chauvot De Beauchene, Isaure" uniqKey="Chauvot De Beauchene I" first="Isaure" last="Chauvot De Beauchene">Isaure Chauvot De Beauchene</name><affiliation wicri:level="4"><nlm:affiliation>Department of Physics T38, Technical University of Munich, Garching, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Physics T38, Technical University of Munich, Garching</wicri:regionArea><wicri:noRegion>Garching</wicri:noRegion><orgName type="university">Université Louis-et-Maximilien de Munich</orgName><placeName><settlement type="city">Munich</settlement><region type="land" nuts="1">Bavière</region><region type="district" nuts="2">District de Haute-Bavière</region></placeName></affiliation></author><author><name sortKey="Bollaert, Emeline" sort="Bollaert, Emeline" uniqKey="Bollaert E" first="Emeline" last="Bollaert">Emeline Bollaert</name><affiliation wicri:level="4"><nlm:affiliation>De Duve Institute, Université Catholique de Louvain, Brussels, Belgium.</nlm:affiliation><country xml:lang="fr">Belgique</country><wicri:regionArea>De Duve Institute, Université Catholique de Louvain, Brussels</wicri:regionArea><placeName><settlement type="city">Bruxelles</settlement><region nuts="2">Région de Bruxelles-Capitale</region><settlement type="city">Louvain-la-Neuve</settlement></placeName><orgName type="university">Université catholique de Louvain</orgName></affiliation></author><author><name sortKey="Avril, Marie Francoise" sort="Avril, Marie Francoise" uniqKey="Avril M" first="Marie-Françoise" last="Avril">Marie-Françoise Avril</name><affiliation wicri:level="3"><nlm:affiliation>Department of Dermatology, Assistance Publique-Hopitaux de Paris, Hopital Cochin Tarnier, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Dermatology, Assistance Publique-Hopitaux de Paris, Hopital Cochin Tarnier, 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="Caron, Olivier" sort="Caron, Olivier" uniqKey="Caron O" first="Olivier" last="Caron">Olivier Caron</name><affiliation wicri:level="1"><nlm:affiliation>Département de Médecine Oncologique, Gustave Roussy, Université Paris-Saclay, Villejuif, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Département de Médecine Oncologique, Gustave Roussy, Université Paris-Saclay, Villejuif</wicri:regionArea><wicri:noRegion>Villejuif</wicri:noRegion><wicri:noRegion>Villejuif</wicri:noRegion></affiliation></author><author><name sortKey="Ingster, Olivier" sort="Ingster, Olivier" uniqKey="Ingster O" first="Olivier" last="Ingster">Olivier Ingster</name><affiliation wicri:level="3"><nlm:affiliation>Service de Génétique Médicale, CHU d'Angers, Angers, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Service de Génétique Médicale, CHU d'Angers, Angers</wicri:regionArea><placeName><region type="region">Pays de la Loire</region><region type="old region">Pays de la Loire</region><settlement type="city">Angers</settlement></placeName></affiliation></author><author><name sortKey="Lecesne, Axel" sort="Lecesne, Axel" uniqKey="Lecesne A" first="Axel" last="Lecesne">Axel Lecesne</name><affiliation wicri:level="1"><nlm:affiliation>Département de Médecine Oncologique, Gustave Roussy, Université Paris-Saclay, Villejuif, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Département de Médecine Oncologique, Gustave Roussy, Université Paris-Saclay, Villejuif</wicri:regionArea><wicri:noRegion>Villejuif</wicri:noRegion><wicri:noRegion>Villejuif</wicri:noRegion></affiliation></author><author><name sortKey="Benusiglio, Patrick" sort="Benusiglio, Patrick" uniqKey="Benusiglio P" first="Patrick" last="Benusiglio">Patrick Benusiglio</name><affiliation wicri:level="1"><nlm:affiliation>Département de Médecine Oncologique, Gustave Roussy, Université Paris-Saclay, Villejuif, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Département de Médecine Oncologique, Gustave Roussy, Université Paris-Saclay, Villejuif</wicri:regionArea><wicri:noRegion>Villejuif</wicri:noRegion><wicri:noRegion>Villejuif</wicri:noRegion></affiliation></author><author><name sortKey="Terrier, Philippe" sort="Terrier, Philippe" uniqKey="Terrier P" first="Philippe" last="Terrier">Philippe Terrier</name><affiliation wicri:level="1"><nlm:affiliation>Département de Biologie et Pathologie Médicales, Gustave Roussy, Université Paris-Saclay, Villejuif, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Département de Biologie et Pathologie Médicales, Gustave Roussy, Université Paris-Saclay, Villejuif</wicri:regionArea><wicri:noRegion>Villejuif</wicri:noRegion><wicri:noRegion>Villejuif</wicri:noRegion></affiliation></author><author><name sortKey="Caumette, Vincent" sort="Caumette, Vincent" uniqKey="Caumette V" first="Vincent" last="Caumette">Vincent Caumette</name><affiliation wicri:level="1"><nlm:affiliation>Département de Biologie et Pathologie Médicales, Gustave Roussy, Université Paris-Saclay, Villejuif, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Département de Biologie et Pathologie Médicales, Gustave Roussy, Université Paris-Saclay, Villejuif</wicri:regionArea><wicri:noRegion>Villejuif</wicri:noRegion><wicri:noRegion>Villejuif</wicri:noRegion></affiliation></author><author><name sortKey="Pissaloux, Daniel" sort="Pissaloux, Daniel" uniqKey="Pissaloux D" first="Daniel" last="Pissaloux">Daniel Pissaloux</name><affiliation wicri:level="1"><nlm:affiliation>Department of Pathology, Centre Leon Bérard, Lyon, Rhône-Alpes, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Pathology, Centre Leon Bérard, Lyon, Rhône-Alpes</wicri:regionArea><wicri:noRegion>Rhône-Alpes</wicri:noRegion><wicri:noRegion>Rhône-Alpes</wicri:noRegion></affiliation></author><author><name sortKey="De La Fouchardiere, Arnaud" sort="De La Fouchardiere, Arnaud" uniqKey="De La Fouchardiere A" first="Arnaud" last="De La Fouchardière">Arnaud De La Fouchardière</name><affiliation wicri:level="1"><nlm:affiliation>Department of Pathology, Centre Leon Bérard, Lyon, Rhône-Alpes, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Pathology, Centre Leon Bérard, Lyon, Rhône-Alpes</wicri:regionArea><wicri:noRegion>Rhône-Alpes</wicri:noRegion><wicri:noRegion>Rhône-Alpes</wicri:noRegion></affiliation></author><author><name sortKey="Cabaret, Odile" sort="Cabaret, Odile" uniqKey="Cabaret O" first="Odile" last="Cabaret">Odile Cabaret</name><affiliation wicri:level="1"><nlm:affiliation>Département de Biologie et Pathologie Médicales, Gustave Roussy, Université Paris-Saclay, Villejuif, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Département de Biologie et Pathologie Médicales, Gustave Roussy, Université Paris-Saclay, Villejuif</wicri:regionArea><wicri:noRegion>Villejuif</wicri:noRegion><wicri:noRegion>Villejuif</wicri:noRegion></affiliation></author><author><name sortKey="N Diaye, Birama" sort="N Diaye, Birama" uniqKey="N Diaye B" first="Birama" last="N'Diaye">Birama N'Diaye</name><affiliation wicri:level="1"><nlm:affiliation>Département de Biologie et Pathologie Médicales, Gustave Roussy, Université Paris-Saclay, Villejuif, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Département de Biologie et Pathologie Médicales, Gustave Roussy, Université Paris-Saclay, Villejuif</wicri:regionArea><wicri:noRegion>Villejuif</wicri:noRegion><wicri:noRegion>Villejuif</wicri:noRegion></affiliation></author><author><name sortKey="Velghe, Amelie" sort="Velghe, Amelie" uniqKey="Velghe A" first="Amélie" last="Velghe">Amélie Velghe</name><affiliation wicri:level="4"><nlm:affiliation>De Duve Institute, Université Catholique de Louvain, Brussels, Belgium.</nlm:affiliation><country xml:lang="fr">Belgique</country><wicri:regionArea>De Duve Institute, Université Catholique de Louvain, Brussels</wicri:regionArea><placeName><settlement type="city">Bruxelles</settlement><region nuts="2">Région de Bruxelles-Capitale</region><settlement type="city">Louvain-la-Neuve</settlement></placeName><orgName type="university">Université catholique de Louvain</orgName></affiliation></author><author><name sortKey="Bougeard, Gaelle" sort="Bougeard, Gaelle" uniqKey="Bougeard G" first="Gaelle" last="Bougeard">Gaelle Bougeard</name><affiliation wicri:level="3"><nlm:affiliation>Faculty of Medicine, INSERM U1079, Normandy University, Rouen, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Faculty of Medicine, INSERM U1079, Normandy University, 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="Mann, Graham J" sort="Mann, Graham J" uniqKey="Mann G" first="Graham J" last="Mann">Graham J. Mann</name><affiliation wicri:level="1"><nlm:affiliation>Centre for Cancer Research, Weastmead Institute for Medical Research and Melanoma Institute, Sydney, New South Wales, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Centre for Cancer Research, Weastmead Institute for Medical Research and Melanoma Institute, Sydney, New South Wales</wicri:regionArea><wicri:noRegion>New South Wales</wicri:noRegion></affiliation></author><author><name sortKey="Koscielny, Serge" sort="Koscielny, Serge" uniqKey="Koscielny S" first="Serge" last="Koscielny">Serge Koscielny</name><affiliation wicri:level="1"><nlm:affiliation>Service de Biostatistiques et d'Epidemiologie, Gustave Roussy, Villejuif, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Service de Biostatistiques et d'Epidemiologie, Gustave Roussy, Villejuif</wicri:regionArea><wicri:noRegion>Villejuif</wicri:noRegion><wicri:noRegion>Villejuif</wicri:noRegion></affiliation></author><author><name sortKey="Barrett, Jennifer H" sort="Barrett, Jennifer H" uniqKey="Barrett J" first="Jennifer H" last="Barrett">Jennifer H. Barrett</name><affiliation wicri:level="4"><nlm:affiliation>Section of Epidemiology and Biostatistics, Leeds Institute of Cancer and Pathology, University of Leeds, Leeds, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Section of Epidemiology and Biostatistics, Leeds Institute of Cancer and Pathology, University of Leeds, Leeds</wicri:regionArea><orgName type="university">Université de Leeds</orgName><placeName><settlement type="city">Leeds</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Yorkshire-et-Humber</region></placeName></affiliation></author><author><name sortKey="Harland, Mark" sort="Harland, Mark" uniqKey="Harland M" first="Mark" last="Harland">Mark Harland</name><affiliation wicri:level="4"><nlm:affiliation>Section of Epidemiology and Biostatistics, Leeds Institute of Cancer and Pathology, University of Leeds, Leeds, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Section of Epidemiology and Biostatistics, Leeds Institute of Cancer and Pathology, University of Leeds, Leeds</wicri:regionArea><orgName type="university">Université de Leeds</orgName><placeName><settlement type="city">Leeds</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Yorkshire-et-Humber</region></placeName></affiliation></author><author><name sortKey="Newton Bishop, Julia" sort="Newton Bishop, Julia" uniqKey="Newton Bishop J" first="Julia" last="Newton-Bishop">Julia Newton-Bishop</name><affiliation wicri:level="4"><nlm:affiliation>Section of Epidemiology and Biostatistics, Leeds Institute of Cancer and Pathology, University of Leeds, Leeds, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Section of Epidemiology and Biostatistics, Leeds Institute of Cancer and Pathology, University of Leeds, Leeds</wicri:regionArea><orgName type="university">Université de Leeds</orgName><placeName><settlement type="city">Leeds</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Yorkshire-et-Humber</region></placeName></affiliation></author><author><name sortKey="Gruis, Nelleke" sort="Gruis, Nelleke" uniqKey="Gruis N" first="Nelleke" last="Gruis">Nelleke Gruis</name><affiliation wicri:level="3"><nlm:affiliation>Department of Dermatology, Leiden University Medical Center, Leiden, The Netherlands.</nlm:affiliation><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Dermatology, Leiden University Medical Center, Leiden</wicri:regionArea><placeName><settlement type="city">Leyde</settlement><region nuts="2" type="province">Hollande-Méridionale</region></placeName></affiliation></author><author><name sortKey="Van Doorn, Remco" sort="Van Doorn, Remco" uniqKey="Van Doorn R" first="Remco" last="Van Doorn">Remco Van Doorn</name><affiliation wicri:level="3"><nlm:affiliation>Department of Dermatology, Leiden University Medical Center, Leiden, The Netherlands.</nlm:affiliation><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Dermatology, Leiden University Medical Center, Leiden</wicri:regionArea><placeName><settlement type="city">Leyde</settlement><region nuts="2" type="province">Hollande-Méridionale</region></placeName></affiliation></author><author><name sortKey="Gauthier Villars, Marion" sort="Gauthier Villars, Marion" uniqKey="Gauthier Villars M" first="Marion" last="Gauthier-Villars">Marion Gauthier-Villars</name><affiliation wicri:level="3"><nlm:affiliation>Institut Curie Hospital Group, Service de Génétique, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Institut Curie Hospital Group, 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="Pierron, Gaelle" sort="Pierron, Gaelle" uniqKey="Pierron G" first="Gaelle" last="Pierron">Gaelle Pierron</name><affiliation wicri:level="3"><nlm:affiliation>Institut Curie Hospital Group, Service de Génétique, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Institut Curie Hospital Group, 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="Stoppa Lyonnet, Dominique" sort="Stoppa Lyonnet, Dominique" uniqKey="Stoppa Lyonnet D" first="Dominique" last="Stoppa-Lyonnet">Dominique Stoppa-Lyonnet</name><affiliation wicri:level="3"><nlm:affiliation>Institut Curie Hospital Group, Service de Génétique, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Institut Curie Hospital Group, 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="Coupier, Isabelle" sort="Coupier, Isabelle" uniqKey="Coupier I" first="Isabelle" last="Coupier">Isabelle Coupier</name><affiliation wicri:level="3"><nlm:affiliation>Hopital Arnaud de Villeneuve, Service de Génétique Médicale et Oncogénétique, CHU de Montpellier, Montpellier, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Hopital Arnaud de Villeneuve, Service de Génétique Médicale et Oncogénétique, CHU de Montpellier, Montpellier</wicri:regionArea><placeName><region type="region">Occitanie (région administrative)</region><region type="old region">Languedoc-Roussillon</region><settlement type="city">Montpellier</settlement></placeName></affiliation></author><author><name sortKey="Guimbaud, Rosine" sort="Guimbaud, Rosine" uniqKey="Guimbaud R" first="Rosine" last="Guimbaud">Rosine Guimbaud</name><affiliation wicri:level="3"><nlm:affiliation>Toulouse University Hospital, Toulouse, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Toulouse University Hospital, Toulouse</wicri:regionArea><placeName><region type="region">Occitanie (région administrative)</region><region type="old region">Midi-Pyrénées</region><settlement type="city">Toulouse</settlement></placeName></affiliation></author><author><name sortKey="Delnatte, Capucine" sort="Delnatte, Capucine" uniqKey="Delnatte C" first="Capucine" last="Delnatte">Capucine Delnatte</name><affiliation wicri:level="1"><nlm:affiliation>Unité d'Oncogénétique, Centre René Gauducheau, Nantes Saint Herblain, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Unité d'Oncogénétique, Centre René Gauducheau, Nantes Saint Herblain</wicri:regionArea><wicri:noRegion>Nantes Saint Herblain</wicri:noRegion><wicri:noRegion>Nantes Saint Herblain</wicri:noRegion></affiliation></author><author><name sortKey="Scoazec, Jean Yves" sort="Scoazec, Jean Yves" uniqKey="Scoazec J" first="Jean-Yves" last="Scoazec">Jean-Yves Scoazec</name><affiliation wicri:level="1"><nlm:affiliation>Département de Biologie et Pathologie Médicales, Gustave Roussy, Université Paris-Saclay, Villejuif, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Département de Biologie et Pathologie Médicales, Gustave Roussy, Université Paris-Saclay, Villejuif</wicri:regionArea><wicri:noRegion>Villejuif</wicri:noRegion><wicri:noRegion>Villejuif</wicri:noRegion></affiliation></author><author><name sortKey="Eggermont, Alexander M" sort="Eggermont, Alexander M" uniqKey="Eggermont A" first="Alexander M" last="Eggermont">Alexander M. Eggermont</name><affiliation wicri:level="1"><nlm:affiliation>INSERM U1015 and Faculté de médecine, Gustave Roussy, Université Paris-Saclay, Villejuif, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>INSERM U1015 and Faculté de médecine, Gustave Roussy, Université Paris-Saclay, Villejuif</wicri:regionArea><wicri:noRegion>Villejuif</wicri:noRegion><wicri:noRegion>Villejuif</wicri:noRegion></affiliation></author><author><name sortKey="Feunteun, Jean" sort="Feunteun, Jean" uniqKey="Feunteun J" first="Jean" last="Feunteun">Jean Feunteun</name><affiliation wicri:level="1"><nlm:affiliation>CNRS UMR8200, Gustave Roussy, Université Paris-Saclay, Villejuif, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>CNRS UMR8200, Gustave Roussy, Université Paris-Saclay, Villejuif</wicri:regionArea><wicri:noRegion>Villejuif</wicri:noRegion><wicri:noRegion>Villejuif</wicri:noRegion></affiliation></author><author><name sortKey="Tchertanov, Luba" sort="Tchertanov, Luba" uniqKey="Tchertanov L" first="Luba" last="Tchertanov">Luba Tchertanov</name><affiliation wicri:level="1"><nlm:affiliation>Centre de Mathématiques et de leurs applications, Ecole Normale Supérieure de Cachan, Université Paris-Saclay, Cachan, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Centre de Mathématiques et de leurs applications, Ecole Normale Supérieure de Cachan, Université Paris-Saclay, Cachan</wicri:regionArea><wicri:noRegion>Cachan</wicri:noRegion><wicri:noRegion>Cachan</wicri:noRegion></affiliation></author><author><name sortKey="Demoulin, Jean Baptiste" sort="Demoulin, Jean Baptiste" uniqKey="Demoulin J" first="Jean-Baptiste" last="Demoulin">Jean-Baptiste Demoulin</name><affiliation wicri:level="4"><nlm:affiliation>De Duve Institute, Université Catholique de Louvain, Brussels, Belgium.</nlm:affiliation><country xml:lang="fr">Belgique</country><wicri:regionArea>De Duve Institute, Université Catholique de Louvain, Brussels</wicri:regionArea><placeName><settlement type="city">Bruxelles</settlement><region nuts="2">Région de Bruxelles-Capitale</region><settlement type="city">Louvain-la-Neuve</settlement></placeName><orgName type="university">Université catholique de Louvain</orgName></affiliation></author><author><name sortKey="Frebourg, Thierry" sort="Frebourg, Thierry" uniqKey="Frebourg T" first="Thierry" last="Frebourg">Thierry Frebourg</name><affiliation wicri:level="3"><nlm:affiliation>Faculty of Medicine, INSERM U1079, Normandy University, Rouen, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Faculty of Medicine, INSERM U1079, Normandy University, 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="Bressac De Paillerets, Brigitte" sort="Bressac De Paillerets, Brigitte" uniqKey="Bressac De Paillerets B" first="Brigitte" last="Bressac-De Paillerets">Brigitte Bressac-De Paillerets</name><affiliation wicri:level="1"><nlm:affiliation>Département de Biologie et Pathologie Médicales, Gustave Roussy, Université Paris-Saclay, Villejuif, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Département de Biologie et Pathologie Médicales, Gustave Roussy, Université Paris-Saclay, Villejuif</wicri:regionArea><wicri:noRegion>Villejuif</wicri:noRegion><wicri:noRegion>Villejuif</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">Sarcomas are rare mesenchymal malignancies whose pathogenesis is poorly understood; both environmental and genetic risk factors could contribute to their aetiology.</div></front></TEI><pubmed><MedlineCitation Status="In-Process" Owner="NLM"><PMID Version="1">28592523</PMID><DateCreated><Year>2017</Year><Month>06</Month><Day>08</Day></DateCreated><DateRevised><Year>2017</Year><Month>08</Month><Day>23</Day></DateRevised><Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1468-6244</ISSN><JournalIssue CitedMedium="Internet"><Volume>54</Volume><Issue>9</Issue><PubDate><Year>2017</Year><Month>Sep</Month></PubDate></JournalIssue><Title>Journal of medical genetics</Title><ISOAbbreviation>J. Med. Genet.</ISOAbbreviation></Journal><ArticleTitle>Germline CDKN2A/P16INK4A mutations contribute to genetic determinism of sarcoma.</ArticleTitle><Pagination><MedlinePgn>607-612</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1136/jmedgenet-2016-104402</ELocationID><Abstract><AbstractText Label="BACKGROUND" NlmCategory="BACKGROUND">Sarcomas are rare mesenchymal malignancies whose pathogenesis is poorly understood; both environmental and genetic risk factors could contribute to their aetiology.</AbstractText><AbstractText Label="METHODS AND RESULTS" NlmCategory="RESULTS">We performed whole-exome sequencing (WES) in a familial aggregation of three individuals affected with soft-tissue sarcoma (STS) without TP53 mutation (Li-Fraumeni-like, LFL) and found a shared pathogenic mutation in CDKN2A tumour suppressor gene. We searched for individuals with sarcoma among 474 melanoma-prone families with a CDKN2A-/+ genotype and for CDKN2A mutations in 190 TP53-negative LFL families where the index case was a sarcoma. Including the initial family, eight independent sarcoma cases carried a germline mutation in the CDKN2A/p16(INK4A) gene. In five out of seven formalin-fixed paraffin-embedded sarcomas, heterozygosity was lost at germline CDKN2A mutations sites demonstrating complete loss of function. As sarcomas are rare in CDKN2A/p16(INK4A) carriers, we searched in constitutional WES of nine carriers for potential modifying rare variants and identified three in platelet-derived growth factor receptor (PDGFRA) gene. Molecular modelling showed that two never-described variants could impact the PDGFRA extracellular domain structure.</AbstractText><AbstractText Label="CONCLUSION" NlmCategory="CONCLUSIONS">Germline mutations in CDKN2A/P16(INK4A), a gene known to predispose to hereditary melanoma, pancreatic cancer and tobacco-related cancers, account also for a subset of hereditary sarcoma. In addition, we identified PDGFRA as a candidate modifier gene.</AbstractText><CopyrightInformation>© Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Jouenne</LastName><ForeName>Fanélie</ForeName><Initials>F</Initials><AffiliationInfo><Affiliation>Département de Biologie et Pathologie Médicales, Gustave Roussy, Université Paris-Saclay, Villejuif, France.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>INSERM, U1186, Université Paris-Saclay, Villejuif, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Chauvot de Beauchene</LastName><ForeName>Isaure</ForeName><Initials>I</Initials><AffiliationInfo><Affiliation>Department of Physics T38, Technical University of Munich, Garching, Germany.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Bollaert</LastName><ForeName>Emeline</ForeName><Initials>E</Initials><AffiliationInfo><Affiliation>De Duve Institute, Université Catholique de Louvain, Brussels, Belgium.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Avril</LastName><ForeName>Marie-Françoise</ForeName><Initials>MF</Initials><AffiliationInfo><Affiliation>Department of Dermatology, Assistance Publique-Hopitaux de Paris, Hopital Cochin Tarnier, Paris, France.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Faculté de Médecine, Paris 5 Descartes, Paris, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Caron</LastName><ForeName>Olivier</ForeName><Initials>O</Initials><AffiliationInfo><Affiliation>Département de Médecine Oncologique, Gustave Roussy, Université Paris-Saclay, Villejuif, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Ingster</LastName><ForeName>Olivier</ForeName><Initials>O</Initials><AffiliationInfo><Affiliation>Service de Génétique Médicale, CHU d'Angers, Angers, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Lecesne</LastName><ForeName>Axel</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>Département de Médecine Oncologique, Gustave Roussy, Université Paris-Saclay, Villejuif, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Benusiglio</LastName><ForeName>Patrick</ForeName><Initials>P</Initials><AffiliationInfo><Affiliation>Département de Médecine Oncologique, Gustave Roussy, Université Paris-Saclay, Villejuif, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Terrier</LastName><ForeName>Philippe</ForeName><Initials>P</Initials><AffiliationInfo><Affiliation>Département de Biologie et Pathologie Médicales, Gustave Roussy, Université Paris-Saclay, Villejuif, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Caumette</LastName><ForeName>Vincent</ForeName><Initials>V</Initials><AffiliationInfo><Affiliation>Département de Biologie et Pathologie Médicales, Gustave Roussy, Université Paris-Saclay, Villejuif, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Pissaloux</LastName><ForeName>Daniel</ForeName><Initials>D</Initials><AffiliationInfo><Affiliation>Department of Pathology, Centre Leon Bérard, Lyon, Rhône-Alpes, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>de la Fouchardière</LastName><ForeName>Arnaud</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>Department of Pathology, Centre Leon Bérard, Lyon, Rhône-Alpes, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Cabaret</LastName><ForeName>Odile</ForeName><Initials>O</Initials><AffiliationInfo><Affiliation>Département de Biologie et Pathologie Médicales, Gustave Roussy, Université Paris-Saclay, Villejuif, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>N'Diaye</LastName><ForeName>Birama</ForeName><Initials>B</Initials><AffiliationInfo><Affiliation>Département de Biologie et Pathologie Médicales, Gustave Roussy, Université Paris-Saclay, Villejuif, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Velghe</LastName><ForeName>Amélie</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>De Duve Institute, Université Catholique de Louvain, Brussels, Belgium.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Bougeard</LastName><ForeName>Gaelle</ForeName><Initials>G</Initials><AffiliationInfo><Affiliation>Faculty of Medicine, INSERM U1079, Normandy University, Rouen, France.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Department of Genetics, Rouen University Hospital, Normandy Centre for Genomic and personalized Medicine, Rouen, Haute-Normandie, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Mann</LastName><ForeName>Graham J</ForeName><Initials>GJ</Initials><AffiliationInfo><Affiliation>Centre for Cancer Research, Weastmead Institute for Medical Research and Melanoma Institute, Sydney, New South Wales, Australia.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Koscielny</LastName><ForeName>Serge</ForeName><Initials>S</Initials><AffiliationInfo><Affiliation>Service de Biostatistiques et d'Epidemiologie, Gustave Roussy, Villejuif, France.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>INSERM U1018, CESP, Université Paris-Sud, Université Paris-Saclay, Villejuif, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Barrett</LastName><ForeName>Jennifer H</ForeName><Initials>JH</Initials><AffiliationInfo><Affiliation>Section of Epidemiology and Biostatistics, Leeds Institute of Cancer and Pathology, University of Leeds, Leeds, UK.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Harland</LastName><ForeName>Mark</ForeName><Initials>M</Initials><AffiliationInfo><Affiliation>Section of Epidemiology and Biostatistics, Leeds Institute of Cancer and Pathology, University of Leeds, Leeds, UK.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Newton-Bishop</LastName><ForeName>Julia</ForeName><Initials>J</Initials><AffiliationInfo><Affiliation>Section of Epidemiology and Biostatistics, Leeds Institute of Cancer and Pathology, University of Leeds, Leeds, UK.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Gruis</LastName><ForeName>Nelleke</ForeName><Initials>N</Initials><AffiliationInfo><Affiliation>Department of Dermatology, Leiden University Medical Center, Leiden, The Netherlands.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Van Doorn</LastName><ForeName>Remco</ForeName><Initials>R</Initials><AffiliationInfo><Affiliation>Department of Dermatology, Leiden University Medical Center, Leiden, The Netherlands.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Gauthier-Villars</LastName><ForeName>Marion</ForeName><Initials>M</Initials><AffiliationInfo><Affiliation>Institut Curie Hospital Group, Service de Génétique, Paris, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Pierron</LastName><ForeName>Gaelle</ForeName><Initials>G</Initials><AffiliationInfo><Affiliation>Institut Curie Hospital Group, Service de Génétique, Paris, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Stoppa-Lyonnet</LastName><ForeName>Dominique</ForeName><Initials>D</Initials><AffiliationInfo><Affiliation>Institut Curie Hospital Group, Service de Génétique, Paris, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Coupier</LastName><ForeName>Isabelle</ForeName><Initials>I</Initials><AffiliationInfo><Affiliation>Hopital Arnaud de Villeneuve, Service de Génétique Médicale et Oncogénétique, CHU de Montpellier, Montpellier, France.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>CRCM Val d'Aurellle, INSERM U896, Montpellier, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Guimbaud</LastName><ForeName>Rosine</ForeName><Initials>R</Initials><AffiliationInfo><Affiliation>Toulouse University Hospital, Toulouse, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Delnatte</LastName><ForeName>Capucine</ForeName><Initials>C</Initials><AffiliationInfo><Affiliation>Unité d'Oncogénétique, Centre René Gauducheau, Nantes Saint Herblain, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Scoazec</LastName><ForeName>Jean-Yves</ForeName><Initials>JY</Initials><AffiliationInfo><Affiliation>Département de Biologie et Pathologie Médicales, Gustave Roussy, Université Paris-Saclay, Villejuif, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Eggermont</LastName><ForeName>Alexander M</ForeName><Initials>AM</Initials><AffiliationInfo><Affiliation>INSERM U1015 and Faculté de médecine, Gustave Roussy, Université Paris-Saclay, Villejuif, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Feunteun</LastName><ForeName>Jean</ForeName><Initials>J</Initials><AffiliationInfo><Affiliation>CNRS UMR8200, Gustave Roussy, Université Paris-Saclay, Villejuif, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Tchertanov</LastName><ForeName>Luba</ForeName><Initials>L</Initials><AffiliationInfo><Affiliation>Centre de Mathématiques et de leurs applications, Ecole Normale Supérieure de Cachan, Université Paris-Saclay, Cachan, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Demoulin</LastName><ForeName>Jean-Baptiste</ForeName><Initials>JB</Initials><AffiliationInfo><Affiliation>De Duve Institute, Université Catholique de Louvain, Brussels, Belgium.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Frebourg</LastName><ForeName>Thierry</ForeName><Initials>T</Initials><AffiliationInfo><Affiliation>Faculty of Medicine, INSERM U1079, Normandy University, Rouen, France.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Department of Genetics, Rouen University Hospital, Normandy Centre for Genomic and personalized Medicine, Rouen, Haute-Normandie, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Bressac-de Paillerets</LastName><ForeName>Brigitte</ForeName><Initials>B</Initials><AffiliationInfo><Affiliation>Département de Biologie et Pathologie Médicales, Gustave Roussy, Université Paris-Saclay, Villejuif, France.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>INSERM, U1186, Université Paris-Saclay, Villejuif, France.</Affiliation></AffiliationInfo></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType></PublicationTypeList><ArticleDate DateType="Electronic"><Year>2017</Year><Month>06</Month><Day>07</Day></ArticleDate></Article><MedlineJournalInfo><Country>England</Country><MedlineTA>J Med Genet</MedlineTA><NlmUniqueID>2985087R</NlmUniqueID><ISSNLinking>0022-2593</ISSNLinking></MedlineJournalInfo><KeywordList Owner="NOTNLM"><Keyword MajorTopicYN="N">Cancer: dermatological</Keyword><Keyword MajorTopicYN="N">Connective tissue disease</Keyword><Keyword MajorTopicYN="N">Genetic epidemiology</Keyword><Keyword MajorTopicYN="N">Molecular genetics</Keyword></KeywordList><CoiStatement>Competing interests: None declared.</CoiStatement></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="received"><Year>2016</Year><Month>10</Month><Day>25</Day></PubMedPubDate><PubMedPubDate PubStatus="revised"><Year>2017</Year><Month>03</Month><Day>13</Day></PubMedPubDate><PubMedPubDate PubStatus="accepted"><Year>2017</Year><Month>03</Month><Day>14</Day></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2017</Year><Month>6</Month><Day>9</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2017</Year><Month>6</Month><Day>9</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2017</Year><Month>6</Month><Day>9</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">28592523</ArticleId><ArticleId IdType="pii">jmedgenet-2016-104402</ArticleId><ArticleId IdType="doi">10.1136/jmedgenet-2016-104402</ArticleId></ArticleIdList></PubmedData></pubmed><affiliations><list><country><li>Allemagne</li><li>Australie</li><li>Belgique</li><li>France</li><li>Pays-Bas</li><li>Royaume-Uni</li></country><region><li>Angleterre</li><li>Bavière</li><li>District de Haute-Bavière</li><li>Haute-Normandie</li><li>Hollande-Méridionale</li><li>Languedoc-Roussillon</li><li>Midi-Pyrénées</li><li>Occitanie (région administrative)</li><li>Pays de la Loire</li><li>Région Normandie</li><li>Région de Bruxelles-Capitale</li><li>Yorkshire-et-Humber</li><li>Île-de-France</li></region><settlement><li>Angers</li><li>Bruxelles</li><li>Leeds</li><li>Leyde</li><li>Louvain-la-Neuve</li><li>Montpellier</li><li>Munich</li><li>Paris</li><li>Rouen</li><li>Toulouse</li></settlement><orgName><li>Université Louis-et-Maximilien de Munich</li><li>Université catholique de Louvain</li><li>Université de Leeds</li></orgName></list><tree><country name="France"><noRegion><name sortKey="Jouenne, Fanelie" sort="Jouenne, Fanelie" uniqKey="Jouenne F" first="Fanélie" last="Jouenne">Fanélie Jouenne</name></noRegion><name sortKey="Avril, Marie Francoise" sort="Avril, Marie Francoise" uniqKey="Avril M" first="Marie-Françoise" last="Avril">Marie-Françoise Avril</name><name sortKey="Benusiglio, Patrick" sort="Benusiglio, Patrick" uniqKey="Benusiglio P" first="Patrick" last="Benusiglio">Patrick Benusiglio</name><name sortKey="Bougeard, Gaelle" sort="Bougeard, Gaelle" uniqKey="Bougeard G" first="Gaelle" last="Bougeard">Gaelle Bougeard</name><name sortKey="Bressac De Paillerets, Brigitte" sort="Bressac De Paillerets, Brigitte" uniqKey="Bressac De Paillerets B" first="Brigitte" last="Bressac-De Paillerets">Brigitte Bressac-De Paillerets</name><name sortKey="Cabaret, Odile" sort="Cabaret, Odile" uniqKey="Cabaret O" first="Odile" last="Cabaret">Odile Cabaret</name><name sortKey="Caron, Olivier" sort="Caron, Olivier" uniqKey="Caron O" first="Olivier" last="Caron">Olivier Caron</name><name sortKey="Caumette, Vincent" sort="Caumette, Vincent" uniqKey="Caumette V" first="Vincent" last="Caumette">Vincent Caumette</name><name sortKey="Coupier, Isabelle" sort="Coupier, Isabelle" uniqKey="Coupier I" first="Isabelle" last="Coupier">Isabelle Coupier</name><name sortKey="De La Fouchardiere, Arnaud" sort="De La Fouchardiere, Arnaud" uniqKey="De La Fouchardiere A" first="Arnaud" last="De La Fouchardière">Arnaud De La Fouchardière</name><name sortKey="Delnatte, Capucine" sort="Delnatte, Capucine" uniqKey="Delnatte C" first="Capucine" last="Delnatte">Capucine Delnatte</name><name sortKey="Eggermont, Alexander M" sort="Eggermont, Alexander M" uniqKey="Eggermont A" first="Alexander M" last="Eggermont">Alexander M. Eggermont</name><name sortKey="Feunteun, Jean" sort="Feunteun, Jean" uniqKey="Feunteun J" first="Jean" last="Feunteun">Jean Feunteun</name><name sortKey="Frebourg, Thierry" sort="Frebourg, Thierry" uniqKey="Frebourg T" first="Thierry" last="Frebourg">Thierry Frebourg</name><name sortKey="Gauthier Villars, Marion" sort="Gauthier Villars, Marion" uniqKey="Gauthier Villars M" first="Marion" last="Gauthier-Villars">Marion Gauthier-Villars</name><name sortKey="Guimbaud, Rosine" sort="Guimbaud, Rosine" uniqKey="Guimbaud R" first="Rosine" last="Guimbaud">Rosine Guimbaud</name><name sortKey="Ingster, Olivier" sort="Ingster, Olivier" uniqKey="Ingster O" first="Olivier" last="Ingster">Olivier Ingster</name><name sortKey="Koscielny, Serge" sort="Koscielny, Serge" uniqKey="Koscielny S" first="Serge" last="Koscielny">Serge Koscielny</name><name sortKey="Lecesne, Axel" sort="Lecesne, Axel" uniqKey="Lecesne A" first="Axel" last="Lecesne">Axel Lecesne</name><name sortKey="N Diaye, Birama" sort="N Diaye, Birama" uniqKey="N Diaye B" first="Birama" last="N'Diaye">Birama N'Diaye</name><name sortKey="Pierron, Gaelle" sort="Pierron, Gaelle" uniqKey="Pierron G" first="Gaelle" last="Pierron">Gaelle Pierron</name><name sortKey="Pissaloux, Daniel" sort="Pissaloux, Daniel" uniqKey="Pissaloux D" first="Daniel" last="Pissaloux">Daniel Pissaloux</name><name sortKey="Scoazec, Jean Yves" sort="Scoazec, Jean Yves" uniqKey="Scoazec J" first="Jean-Yves" last="Scoazec">Jean-Yves Scoazec</name><name sortKey="Stoppa Lyonnet, Dominique" sort="Stoppa Lyonnet, Dominique" uniqKey="Stoppa Lyonnet D" first="Dominique" last="Stoppa-Lyonnet">Dominique Stoppa-Lyonnet</name><name sortKey="Tchertanov, Luba" sort="Tchertanov, Luba" uniqKey="Tchertanov L" first="Luba" last="Tchertanov">Luba Tchertanov</name><name sortKey="Terrier, Philippe" sort="Terrier, Philippe" uniqKey="Terrier P" first="Philippe" last="Terrier">Philippe Terrier</name></country><country name="Allemagne"><region name="Bavière"><name sortKey="Chauvot De Beauchene, Isaure" sort="Chauvot De Beauchene, Isaure" uniqKey="Chauvot De Beauchene I" first="Isaure" last="Chauvot De Beauchene">Isaure Chauvot De Beauchene</name></region></country><country name="Belgique"><region name="Région de Bruxelles-Capitale"><name sortKey="Bollaert, Emeline" sort="Bollaert, Emeline" uniqKey="Bollaert E" first="Emeline" last="Bollaert">Emeline Bollaert</name></region><name sortKey="Demoulin, Jean Baptiste" sort="Demoulin, Jean Baptiste" uniqKey="Demoulin J" first="Jean-Baptiste" last="Demoulin">Jean-Baptiste Demoulin</name><name sortKey="Velghe, Amelie" sort="Velghe, Amelie" uniqKey="Velghe A" first="Amélie" last="Velghe">Amélie Velghe</name></country><country name="Australie"><noRegion><name sortKey="Mann, Graham J" sort="Mann, Graham J" uniqKey="Mann G" first="Graham J" last="Mann">Graham J. Mann</name></noRegion></country><country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Barrett, Jennifer H" sort="Barrett, Jennifer H" uniqKey="Barrett J" first="Jennifer H" last="Barrett">Jennifer H. Barrett</name></region><name sortKey="Harland, Mark" sort="Harland, Mark" uniqKey="Harland M" first="Mark" last="Harland">Mark Harland</name><name sortKey="Newton Bishop, Julia" sort="Newton Bishop, Julia" uniqKey="Newton Bishop J" first="Julia" last="Newton-Bishop">Julia Newton-Bishop</name></country><country name="Pays-Bas"><region name="Hollande-Méridionale"><name sortKey="Gruis, Nelleke" sort="Gruis, Nelleke" uniqKey="Gruis N" first="Nelleke" last="Gruis">Nelleke Gruis</name></region><name sortKey="Van Doorn, Remco" sort="Van Doorn, Remco" uniqKey="Van Doorn R" first="Remco" last="Van Doorn">Remco Van Doorn</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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