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Germline CDKN2A/P16INK4A mutations contribute to genetic determinism of sarcoma.

Identifieur interne : 000B49 ( Main/Exploration ); précédent : 000B48; suivant : 000B50

Germline 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 :

RBID : pubmed:28592523

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:


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Le document en format XML

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<name sortKey="Guimbaud, Rosine" sort="Guimbaud, Rosine" uniqKey="Guimbaud R" first="Rosine" last="Guimbaud">Rosine Guimbaud</name>
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<wicri:regionArea>Département de Médecine Oncologique, Gustave Roussy, Université Paris-Saclay, Villejuif</wicri:regionArea>
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<nlm:affiliation>Département de Biologie et Pathologie Médicales, Gustave Roussy, Université Paris-Saclay, Villejuif, France.</nlm:affiliation>
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<wicri:regionArea>Département de Biologie et Pathologie Médicales, Gustave Roussy, Université Paris-Saclay, Villejuif</wicri:regionArea>
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<country xml:lang="fr">France</country>
<wicri:regionArea>Department of Pathology, Centre Leon Bérard, Lyon, Rhône-Alpes</wicri:regionArea>
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<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>
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<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>
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<country xml:lang="fr">France</country>
<wicri:regionArea>Département de Biologie et Pathologie Médicales, Gustave Roussy, Université Paris-Saclay, Villejuif</wicri:regionArea>
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<nlm:affiliation>De Duve Institute, Université Catholique de Louvain, Brussels, Belgium.</nlm:affiliation>
<country xml:lang="fr">Belgique</country>
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<wicri:regionArea>Faculty of Medicine, INSERM U1079, Normandy University, Rouen</wicri:regionArea>
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<region type="old region">Haute-Normandie</region>
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</placeName>
</affiliation>
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<name sortKey="Mann, Graham J" sort="Mann, Graham J" uniqKey="Mann G" first="Graham J" last="Mann">Graham J. Mann</name>
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<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>
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<name sortKey="Koscielny, Serge" sort="Koscielny, Serge" uniqKey="Koscielny S" first="Serge" last="Koscielny">Serge Koscielny</name>
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<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>
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<country xml:lang="fr">Royaume-Uni</country>
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<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>
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<settlement type="city">Leeds</settlement>
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<name sortKey="Newton Bishop, Julia" sort="Newton Bishop, Julia" uniqKey="Newton Bishop J" first="Julia" last="Newton-Bishop">Julia Newton-Bishop</name>
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<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>
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<settlement type="city">Leeds</settlement>
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<name sortKey="Gruis, Nelleke" sort="Gruis, Nelleke" uniqKey="Gruis N" first="Nelleke" last="Gruis">Nelleke Gruis</name>
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<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>
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<settlement type="city">Leyde</settlement>
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<name sortKey="Van Doorn, Remco" sort="Van Doorn, Remco" uniqKey="Van Doorn R" first="Remco" last="Van Doorn">Remco Van Doorn</name>
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<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>
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<settlement type="city">Leyde</settlement>
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<name sortKey="Gauthier Villars, Marion" sort="Gauthier Villars, Marion" uniqKey="Gauthier Villars M" first="Marion" last="Gauthier-Villars">Marion Gauthier-Villars</name>
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<nlm:affiliation>Institut Curie Hospital Group, Service de Génétique, Paris, France.</nlm:affiliation>
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<wicri:regionArea>Institut Curie Hospital Group, Service de Génétique, Paris</wicri:regionArea>
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<name sortKey="Pierron, Gaelle" sort="Pierron, Gaelle" uniqKey="Pierron G" first="Gaelle" last="Pierron">Gaelle Pierron</name>
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<nlm:affiliation>Institut Curie Hospital Group, Service de Génétique, Paris, France.</nlm:affiliation>
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<name sortKey="Stoppa Lyonnet, Dominique" sort="Stoppa Lyonnet, Dominique" uniqKey="Stoppa Lyonnet D" first="Dominique" last="Stoppa-Lyonnet">Dominique Stoppa-Lyonnet</name>
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<name sortKey="Coupier, Isabelle" sort="Coupier, Isabelle" uniqKey="Coupier I" first="Isabelle" last="Coupier">Isabelle Coupier</name>
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<name sortKey="Guimbaud, Rosine" sort="Guimbaud, Rosine" uniqKey="Guimbaud R" first="Rosine" last="Guimbaud">Rosine Guimbaud</name>
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<name sortKey="Delnatte, Capucine" sort="Delnatte, Capucine" uniqKey="Delnatte C" first="Capucine" last="Delnatte">Capucine Delnatte</name>
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<nlm:affiliation>Unité d'Oncogénétique, Centre René Gauducheau, Nantes Saint Herblain, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
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<name sortKey="Scoazec, Jean Yves" sort="Scoazec, Jean Yves" uniqKey="Scoazec J" first="Jean-Yves" last="Scoazec">Jean-Yves Scoazec</name>
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<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>
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<name sortKey="Eggermont, Alexander M" sort="Eggermont, Alexander M" uniqKey="Eggermont A" first="Alexander M" last="Eggermont">Alexander M. Eggermont</name>
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<nlm:affiliation>INSERM U1015 and Faculté de médecine, Gustave Roussy, Université Paris-Saclay, Villejuif, France.</nlm:affiliation>
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<name sortKey="Feunteun, Jean" sort="Feunteun, Jean" uniqKey="Feunteun J" first="Jean" last="Feunteun">Jean Feunteun</name>
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<nlm:affiliation>CNRS UMR8200, Gustave Roussy, Université Paris-Saclay, Villejuif, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
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<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>
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<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>
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<settlement type="city">Bruxelles</settlement>
<region nuts="2">Région de Bruxelles-Capitale</region>
<settlement type="city">Louvain-la-Neuve</settlement>
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<orgName type="university">Université catholique de Louvain</orgName>
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</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>
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<region type="region">Région Normandie</region>
<region type="old region">Haute-Normandie</region>
<settlement type="city">Rouen</settlement>
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</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>
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<wicri:noRegion>Villejuif</wicri:noRegion>
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<series>
<title level="j">Journal of medical genetics</title>
<idno type="eISSN">1468-6244</idno>
<imprint>
<date when="2017" type="published">2017</date>
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<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>
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</TEI>
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<li>Région Normandie</li>
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<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>
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</list>
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<country name="France">
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<name sortKey="Bougeard, Gaelle" sort="Bougeard, Gaelle" uniqKey="Bougeard G" first="Gaelle" last="Bougeard">Gaelle Bougeard</name>
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<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>
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<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>
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<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>
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<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>
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<country name="Pays-Bas">
<region name="Hollande-Méridionale">
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