Analysis of the DND1 gene in men with sporadic and familial testicular germ cell tumors

Autor:	Gedske Daugaard, Sophie D. Fosså, Sergei Tjulandin, Walter P. Weber, Douglas F. Easton, Rachel Linger, Dominique Stoppa-Lyonnet, Peter Albers, David W. Hogg, Parry Guilford, Robert Huddart, Michael Friedlander, Peter A. Daly, Ketil Heimdal, Michael A.S. Jewett, Darshna Dudakia, Michael R. Stratton, Katherine L. Nathanson, Hans Stoll, Lajos Géczi, Mary L. McMaster, Catherine Bonaïti-Pellié, Stéphane Richard, Elizabeth A. Rapley, Lawrence H. Einhorn, Mark H. Greene, Victoria K. Cortessis, Edith Olah, Agnès Chompret, Axel Heidenreich, Radka Lohynska, Katherine M. Tucker, Kelly-Anne Phillips, D. Timothy Bishop, Larissa A. Korde, Ludmila Liubchenko, István Bodrogi
Přispěvatelé:	Section of Cancer Genetics, Institute of cancer research, Academic Radiotherapy Unit, Dept of Medical Oncology, Division of Medicine, University of New South Wales [Sydney] (UNSW)-Prince of Wales Hospital Randwick, Dept of Haematology and Medical Oncology, Peter MacCallum Cancer Center, Princess Margaret Hospital, University of Toronto, Dept of Radiotherapy and Oncology, University hospital of Prague, Dept of Oncology, Rigshospitalet [Copenhagen], Copenhagen University Hospital-Copenhagen University Hospital, Génétique oncologique (GO - UMR 8125), Université Paris-Sud - Paris 11 (UP11)-Institut Gustave Roussy (IGR)-Centre National de la Recherche Scientifique (CNRS), Service d'urologie, Hôpital Bicêtre-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris-Sud - Paris 11 (UP11), Centre de Recherches Biologiques, CERB, Génomes et cancer (GC (FRE2939)), Département de Pédiatrie, Institut Gustave Roussy (IGR), Epidémiologie des cancers, Institut National de la Santé et de la Recherche Médicale (INSERM), Onco-génétique, Département de médecine oncologique [Gustave Roussy], Institut Gustave Roussy (IGR)-Institut Gustave Roussy (IGR), Service de Génétique Oncologique, Institut Curie [Paris], Département de génétique, Unité de génétique et biologie des cancers (U830), Institut Curie [Paris]-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5), Génétique épidémiologique et structures des populations humaines (Inserm U535), Epidémiologie, sciences sociales, santé publique (IFR 69), Université Paris 1 Panthéon-Sorbonne (UP1)-Université Paris-Sud - Paris 11 (UP11)-École des hautes études en sciences sociales (EHESS)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Paris 1 Panthéon-Sorbonne (UP1)-Université Paris-Sud - Paris 11 (UP11)-École des hautes études en sciences sociales (EHESS)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM), Epidémiologie génétique, Dept of Urological Oncology, Phillips university, Department of Urology, Klinikum Kassel GmbH, Department of Molecular Genetics and Department of Chemotherapy, National Institute of Oncology, Department of Medical Oncology, St James's hospital, Cancer Genetics Laboratory, University of Otago [Dunedin, Nouvelle-Zélande], Departments of Clinical Cancer Research and genetics, Rikshospitalet-Radiumhospitalet Trust, Laboratory of Clinical Genetics, Institute of Clinical Oncology, Medical Oncology, University Hospital Basel [Basel], Google Inc., Institut de Physique et Chimie des Matériaux de Strasbourg (IPCMS), Université Louis Pasteur - Strasbourg I-Centre National de la Recherche Scientifique (CNRS), Barts and The London Queen Mary's School of Medicine, Clinical Genetics Branch, Division of Cancer Epidemiology & Genetics, National Institutes of Health [Bethesda] (NIH)-National Cancer Institute [Bethesda] (NCI-NIH), National Institutes of Health [Bethesda] (NIH), Depts of Medicine and Biostatistics and Epidemology, Abramson Family Cancer Research Institute-Perelman School of Medicine, University of Pennsylvania [Philadelphia]-University of Pennsylvania [Philadelphia], Department of Preventive Medicine, Keck School of Medicine [Los Angeles], University of Southern California (USC)-University of Southern California (USC), Cancer Research U.K. Genetic Epidemiology Unit, Strangeways Research Laboratory, Genetic Epidemiology Unit, Department of Public Health and Primary Care, University of Cambridge [UK] (CAM), Genetic Epidemiology Division, Cancer Research UK Clinical Centre, Saint James's University Hospital, University of New South Wales [Sydney] ( UNSW ) -Prince of Wales Hospital Randwick, Peter MacCallum Cancer Centre, University of Toronto-Princess Margaret Hospital, Génétique oncologique ( GO - UMR 8125 ), Université Paris-Sud - Paris 11 ( UP11 ) -Institut Gustave Roussy ( IGR ) -Centre National de la Recherche Scientifique ( CNRS ), Université Paris-Sud - Paris 11 ( UP11 ) -Assistance publique - Hôpitaux de Paris (AP-HP)-Hôpital Bicêtre, Génomes et cancer ( GC (FRE2939) ), Institut Gustave Roussy ( IGR ), Institut National de la Santé et de la Recherche Médicale ( INSERM ), Institut Gustave Roussy ( IGR ) -Institut Gustave Roussy ( IGR ), INSTITUT CURIE, Unité de génétique et biologie des cancers ( U830 ), Université Paris Descartes - Paris 5 ( UPD5 ) -Institut Curie-Institut National de la Santé et de la Recherche Médicale ( INSERM ), Génétique épidémiologique et structures des populations humaines ( Inserm U535 ), Epidémiologie, sciences sociales, santé publique ( IFR 69 ), Université Panthéon-Sorbonne ( UP1 ) -Université Paris-Sud - Paris 11 ( UP11 ) -École des hautes études en sciences sociales ( EHESS ) -Assistance publique - Hôpitaux de Paris (AP-HP)-Université Paris Descartes - Paris 5 ( UPD5 ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Centre National de la Recherche Scientifique ( CNRS ) -Université Panthéon-Sorbonne ( UP1 ) -Université Paris-Sud - Paris 11 ( UP11 ) -École des hautes études en sciences sociales ( EHESS ) -Assistance publique - Hôpitaux de Paris (AP-HP)-Université Paris Descartes - Paris 5 ( UPD5 ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Centre National de la Recherche Scientifique ( CNRS ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ), University of Otago, Institut de Physique et Chimie des Matériaux de Strasbourg ( IPCMS ), Université Louis Pasteur - Strasbourg I-Centre National de la Recherche Scientifique ( CNRS ), National Institutes of Health ( NIH ) -National Cancer Institute ( NIH ), Abramson Family Cancer Research Institute-University of Pennsylvania School of Medicine, University of Cambridge [UK] ( CAM ), Université Paris-Sud - Paris 11 (UP11)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpital Bicêtre, Institut Curie, Université Paris Descartes - Paris 5 (UPD5)-Institut Curie-Institut National de la Santé et de la Recherche Médicale (INSERM), Université Panthéon-Sorbonne (UP1)-Université Paris-Sud - Paris 11 (UP11)-École des hautes études en sciences sociales (EHESS)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Panthéon-Sorbonne (UP1)-Université Paris-Sud - Paris 11 (UP11)-École des hautes études en sciences sociales (EHESS)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)
Jazyk:	angličtina
Rok vydání:	2008
Předmět:	Male MESH: Neoplasm Proteins Cancer Research DNA Mutational Analysis medicine.disease_cause Polymerase Chain Reaction law.invention 0302 clinical medicine law Polymorphism (computer science) Family history MESH: DNA Mutational Analysis MESH : Polymerase Chain Reaction Polymerase chain reaction MESH: Testicular Neoplasms Genetics 0303 health sciences Mutation MESH: Genetic Predisposition to Disease Neoplasms Germ Cell and Embryonal Neoplasm Proteins medicine.anatomical_structure 030220 oncology & carcinogenesis MESH: Neoplasms Germ Cell and Embryonal MESH : Mutation Germ cell [SDV.OT]Life Sciences [q-bio]/Other [q-bio.OT] MESH: Mutation MESH : Male MESH : DNA Mutational Analysis Biology MESH : Family Health Article 03 medical and health sciences MESH : Neoplasm Proteins MESH : Neoplasms Germ Cell and Embryonal Testicular Neoplasms medicine Genetic predisposition Humans Genetic Predisposition to Disease MESH : Testicular Neoplasms [ SDV.OT ] Life Sciences [q-bio]/Other [q-bio.OT] Gene 030304 developmental biology Family Health MESH: Humans MESH : Humans Cancer MESH: Polymerase Chain Reaction medicine.disease MESH: Male MESH: Family Health MESH : Genetic Predisposition to Disease
Zdroj:	Genes, Chromosomes and Cancer Genes, Chromosomes and Cancer, Wiley, 2008, 47 (3), pp.247-52. ⟨10.1002/gcc.20526⟩ Genes Chromosomes and Cancer / GENES CHROMOSOMES & CANCER Genes Chromosomes and Cancer / GENES CHROMOSOMES & CANCER, 2008, 47 (3), pp.247-52. 〈10.1002/gcc.20526〉
ISSN:	1045-2257 1098-2264
DOI:	10.1002/gcc.20526⟩
Popis:	A base substitution in the mouse Dnd1 gene resulting in a truncated Dnd protein has been shown to be responsible for germ cell loss and the development of testicular germ cell tumors (TGCT) in the 129 strain of mice. We investigated the human orthologue of this gene in 263 patients (165 with a family history of TGCT and 98 without) and found a rare heterozygous variant, p. Glu86Ala, in a single case. This variant was not present in control chromosomes (0/4,132). Analysis of the variant in an additional 842 index TGCT cases (269 with a family history of TGCT and 573 without) did not reveal any additional instances. The variant, p. Glu86Ala, is within a known functional domain of DND1 and is highly conserved through evolution. Although the variant may be a rare polymorphism, a change at such a highly conserved residue is characteristic of a disease-causing variant. Whether it is disease-causing or not, mutations in DND1 make, at most, a very small contribution to TGCT susceptibility in adults and adolescents.
Databáze:	OpenAIRE
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