title: Analysis of the DND1 gene in men with sporadic and familial testicular germ cell tumors.
abstract: 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.
authors: Testicular Cancer Genetics Team, Section of Cancer Genetics, Institute of Cancer Research, Sutton, Surrey, UK.
authors: Rachel
authors: R
authors: Linger
authors: Darshna
authors: D
authors: Dudakia
authors: Robert
authors: R
authors: Huddart
authors: Kathy
authors: K
authors: Tucker
authors: Michael
authors: M
authors: Friedlander
authors: Kelly-Anne
authors: KA
authors: Phillips
authors: David
authors: D
authors: Hogg
authors: Michael A S
authors: MA
authors: Jewett
authors: Radka
authors: R
authors: Lohynska
authors: Gedske
authors: G
authors: Daugaard
authors: Stéphane
authors: S
authors: Richard
authors: Agnes
authors: A
authors: Chompret
authors: Dominique
authors: D
authors: Stoppa-Lyonnet
authors: Catherine
authors: C
authors: Bonaïti-Pellié
authors: Axel
authors: A
authors: Heidenreich
authors: Peter
authors: P
authors: Albers
authors: Edith
authors: E
authors: Olah
authors: Lajos
authors: L
authors: Geczi
authors: Istvan
authors: I
authors: Bodrogi
authors: Peter A
authors: PA
authors: Daly
authors: Parry
authors: P
authors: Guilford
authors: Sophie D
authors: SD
authors: Fosså
authors: Ketil
authors: K
authors: Heimdal
authors: Sergei A
authors: SA
authors: Tjulandin
authors: Ludmila
authors: L
authors: Liubchenko
authors: Hans
authors: H
authors: Stoll
authors: Walter
authors: W
authors: Weber
authors: Lawrence
authors: L
authors: Einhorn
authors: Mary
authors: M
authors: McMaster
authors: Larissa
authors: L
authors: Korde
authors: Mark H
authors: MH
authors: Greene
authors: Katherine L
authors: KL
authors: Nathanson
authors: Victoria
authors: V
authors: Cortessis
authors: Douglas F
authors: DF
authors: Easton
authors: D Timothy
authors: DT
authors: Bishop
authors: Michael R
authors: MR
authors: Stratton
authors: Elizabeth A
authors: EA
authors: Rapley
mesh_terms: D004252:DNA Mutational Analysis; D005192:Family Health; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D009154:Mutation; D009363:Neoplasm Proteins / Q000235:genetics*; D009373:Neoplasms, Germ Cell and Embryonal / Q000209:etiology / Q000235:genetics*; D016133:Polymerase Chain Reaction; D013736:Testicular Neoplasms / Q000209:etiology / Q000235:genetics*
chemical_list: C528453:Dnd1 protein, human; D009363:Neoplasm Proteins