HAL: hal-00281481, version 1

PubMed: 18069663

PubMed Central: 3109865

DOI: 10.1002/gcc.20526

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Genes Chromosomes and Cancer / GENES CHROMOSOMES & CANCER 47, 3 (2008) 247-52

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

Rachel Linger 1, Darshna Dudakia 1, Robert Huddart 2, Kathy Tucker 3, Michael Friedlander 3, Kelly-Anne Phillips 4, David Hogg 5, Michael A S Jewett 5, Radka Lohynska 6, Gedske Daugaard 7, Stéphane Richard 8, 9, 10, 11, 12, 13, 14, 15, 16, 17, 18, 19, 20, Agnes Chompret 21, 22, 23, 24, 25, Dominique Stoppa-Lyonnet 26, 27, 28, Catherine Bonaïti-Pellié 22, 29, 30, Axel Heidenreich 31, Peter Albers 32, Edith Olah 33, 34, Lajos Geczi 33, Istvan Bodrogi 33, Peter A Daly 35, Parry Guilford 36, Sophie D Fosså 37, Ketil Heimdal 37, Sergei A Tjulandin 38, Ludmila Liubchenko 38, Hans Stoll 39, 40, Walter Weber 39, 41, 42, Lawrence Einhorn 43, Mary McMaster 44, Larissa Korde, Mark H Greene 44, Katherine L Nathanson 45, Victoria Cortessis 46, Douglas F Easton 47, 48, D Timothy Bishop 49, Michael R Stratton 1, Elizabeth A Rapley 1

(2008-03)

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.

1:	Section of Cancer Genetics
	Institute of cancer research
2:	Academic Radiotherapy Unit
	Institute of cancer research
3:	Dept of Medical Oncology, Division of Medicine
	Prince of Wales Hospital Randwick – University of New South Wales
4:	Dept of Haematology and Medical Oncology
	Peter MacCallum Cancer Centre
5:	Princess Margaret Hospital
	Princess Margaret Hospital – University of Toronto
6:	Dept of Radiotherapy and Oncology
	University hospital of Prague
7:	Dept of Oncology
	Rigshospitalet
8:	Laboratoire Charles Fabry de l'Institut d'Optique (LCFIO)
	Institut d'Optique Graduate School (IOGS) – CNRS : UMR8501 – Université Paris XI - Paris Sud
9:	Thales Research and Technologies [Orsay] (TRT)
	THALES
10:	Institut d'Electronique Fondamentale
	Aucune
11:	Centre lillois d'études et de recherches sociologiques et économiques (CLERSE)
	CNRS : UMR8019 – Université Lille I - Sciences et technologies
12:	Physiopathologie cardiovasculaire
	INSERM : U637 – IFR3 – Université Montpellier I
13:	Laboratoire d'analyse et d'architecture des systèmes (LAAS)
	CNRS : UPR8001 – Université Paul Sabatier [UPS] - Toulouse III – Institut National Polytechnique de Toulouse - INPT – Institut National des Sciences Appliquées (INSA) - Toulouse
14:	Institut Camille Jordan (ICJ)
	CNRS : UMR5208 – Université Claude Bernard - Lyon I – Ecole Centrale de Lyon – Institut National des Sciences Appliquées (INSA) - Lyon
15:	Génétique oncologique (GO)
	CNRS : UMR8125 – Institut Gustave Roussy – Université Paris XI - Paris Sud
16:	Service d'urologie
	Assistance publique - Hôpitaux de Paris (AP-HP) – Hôpital Bicêtre – Université Paris XI - Paris Sud
17:	Laboratoire d'aérologie (LA)
	CNRS : UMR5560 – Observatoire Midi-Pyrénées – INSU – Université Paul Sabatier [UPS] - Toulouse III
18:	Centre de Recherches Biologiques
	CERB
19:	Génomes et cancer (GC)
	CNRS : FRE2939 – Institut Gustave Roussy – Université Paris XI - Paris Sud
20:	IFP Energies Nouvelles (IFPEN)
	IFP Energies Nouvelles
21:	Département de Pédiatrie
	Institut Gustave Roussy
22:	Epidémiologie des cancers
	INSERM : U521
23:	Consultation d'Oncogénétique
	Institut Gustave Roussy – Département de médecine
24:	Département de médecine
	Institut Gustave Roussy
25:	Département d'oncologie
	Institut Gustave Roussy
26:	Service de Génétique Oncologique
	Institut Curie – Université Paris V - Paris Descartes
27:	Département de génétique
	Institut Curie
28:	Unité de génétique et biologie des cancers
	INSERM : U830 – Institut Curie – Université Pierre et Marie Curie [UPMC] - Paris VI
29:	Génétique épidémiologique et structures des populations humaines
	INSERM : U535 – IFR69 – Université Paris XI - Paris Sud
30:	Epidémiologie génétique
	INSERM : U155
31:	Dept of Urological Oncology
	Phillips university
32:	Department of Urology
	Klinikum Kassel GmbH
33:	Department of Molecular Genetics and Department of Chemotherapy
	National Institute of Oncology
34:	National Institute of Oncology
	National Institute of Oncology
35:	Department of Medical Oncology
	St James's hospital
36:	Cancer Genetics Laboratory
	University of Otago
37:	Departments of Clinical Cancer Research and genetics
	Rikshospitalet-Radiumhospitalet Trust
38:	Laboratory of Clinical Genetics
	Institute of Clinical Oncology
39:	Medical Oncology
	University hospital of Basel
40:	Max Planck Institute für Metallforschung
	Max-Planck-Institut
41:	Google Inc.®
	Google Inc.®
42:	Institut de Physique et Chimie des Matériaux de Strasbourg (IPCMS)
	CNRS : UMR7504 – Université Louis Pasteur - Strasbourg I
43:	Department of Medical Oncology
	Barts and The London Queen Mary's School of Medicine
44:	Clinical Genetics Branch, Division of Cancer Epidemiology & Genetics
	NIH – National Cancer Institute
45:	Depts of Medicine and Biostatistics and Epidemology
	Abramson Family Cancer Research Institute – University of Pennsylvania School of Medicine
46:	Department of Preventive Medicine
	Keck School of Medicine
47:	Cancer Research U.K. Genetic Epidemiology Unit
	Strangeways Research Laboratory
48:	Genetic Epidemiology Unit, Department of Public Health and Primary Care
	University of Cambridge
49:	Genetic Epidemiology Division, Cancer Research UK Clinical Centre
	Saint James's University Hospital

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hal-00281481, version 1

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From: Christelle Bouchot <>

Submitted on: Thursday, 22 May 2008 15:47:44

Updated on: Friday, 15 October 2010 14:15:52