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

Rachel Linger, Darshna Dudakia, Robert Huddart, Kathy Tucker, Michael Friedlander, Kelly Anne Phillips, David Hogg, Michael A S Jewett, Radka Lohynska, Gedske Daugaard, Stéphane Richard, Agnes Chompret, Dominique Stoppa-Lyonnet, Catherine Bonaïti-Pellié, Axel Heidenreich, Peter Albers, Edith Olah, Lajos Geczi, Istvan Bodrogi, Peter A. DalyParry Guilford, Sophie D. Fosså, Ketil Heimdal, Sergei A. Tjulandin, Ludmila Liubchenko, Hans Stoll, Walter Weber, Lawrence Einhorn, Mary McMaster, Larissa Korde, Mark H. Greene, Katherine L. Nathanson, Victoria Cortessis, Douglas F. Easton, D. Timothy Bishop, Michael R. Stratton, Elizabeth A. Rapley

Research output: Contribution to journalArticle

28 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)247-252
Number of pages6
JournalGenes Chromosomes and Cancer
Volume47
Issue number3
DOIs
StatePublished - Mar 2008

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Genes
129 Strain Mouse
Chromosomes, Human, Pair 4
Germ Cells
Testicular Germ Cell Tumor
Mutation
Proteins

ASJC Scopus subject areas

  • Cancer Research
  • Genetics

Cite this

Linger, R., Dudakia, D., Huddart, R., Tucker, K., Friedlander, M., Phillips, K. A., ... Rapley, E. A. (2008). Analysis of the DND1 gene in men with sporadic and familial testicular germ cell tumors. Genes Chromosomes and Cancer, 47(3), 247-252. https://doi.org/10.1002/gcc.20526

Analysis of the DND1 gene in men with sporadic and familial testicular germ cell tumors. / Linger, Rachel; Dudakia, Darshna; Huddart, Robert; Tucker, Kathy; Friedlander, Michael; Phillips, Kelly Anne; Hogg, David; Jewett, Michael A S; Lohynska, Radka; Daugaard, Gedske; Richard, Stéphane; Chompret, Agnes; Stoppa-Lyonnet, Dominique; Bonaïti-Pellié, Catherine; Heidenreich, Axel; Albers, Peter; Olah, Edith; Geczi, Lajos; Bodrogi, Istvan; Daly, Peter A.; Guilford, Parry; Fosså, Sophie D.; Heimdal, Ketil; Tjulandin, Sergei A.; Liubchenko, Ludmila; Stoll, Hans; Weber, Walter; Einhorn, Lawrence; McMaster, Mary; Korde, Larissa; Greene, Mark H.; Nathanson, Katherine L.; Cortessis, Victoria; Easton, Douglas F.; Bishop, D. Timothy; Stratton, Michael R.; Rapley, Elizabeth A.

In: Genes Chromosomes and Cancer, Vol. 47, No. 3, 03.2008, p. 247-252.

Research output: Contribution to journalArticle

Linger, R, Dudakia, D, Huddart, R, Tucker, K, Friedlander, M, Phillips, KA, Hogg, D, Jewett, MAS, Lohynska, R, Daugaard, G, Richard, S, Chompret, A, Stoppa-Lyonnet, D, Bonaïti-Pellié, C, Heidenreich, A, Albers, P, Olah, E, Geczi, L, Bodrogi, I, Daly, PA, Guilford, P, Fosså, SD, Heimdal, K, Tjulandin, SA, Liubchenko, L, Stoll, H, Weber, W, Einhorn, L, McMaster, M, Korde, L, Greene, MH, Nathanson, KL, Cortessis, V, Easton, DF, Bishop, DT, Stratton, MR & Rapley, EA 2008, 'Analysis of the DND1 gene in men with sporadic and familial testicular germ cell tumors', Genes Chromosomes and Cancer, vol. 47, no. 3, pp. 247-252. https://doi.org/10.1002/gcc.20526
Linger R, Dudakia D, Huddart R, Tucker K, Friedlander M, Phillips KA et al. Analysis of the DND1 gene in men with sporadic and familial testicular germ cell tumors. Genes Chromosomes and Cancer. 2008 Mar;47(3):247-252. https://doi.org/10.1002/gcc.20526
Linger, Rachel ; Dudakia, Darshna ; Huddart, Robert ; Tucker, Kathy ; Friedlander, Michael ; Phillips, Kelly Anne ; Hogg, David ; Jewett, Michael A S ; Lohynska, Radka ; Daugaard, Gedske ; Richard, Stéphane ; Chompret, Agnes ; Stoppa-Lyonnet, Dominique ; Bonaïti-Pellié, Catherine ; Heidenreich, Axel ; Albers, Peter ; Olah, Edith ; Geczi, Lajos ; Bodrogi, Istvan ; Daly, Peter A. ; Guilford, Parry ; Fosså, Sophie D. ; Heimdal, Ketil ; Tjulandin, Sergei A. ; Liubchenko, Ludmila ; Stoll, Hans ; Weber, Walter ; Einhorn, Lawrence ; McMaster, Mary ; Korde, Larissa ; Greene, Mark H. ; Nathanson, Katherine L. ; Cortessis, Victoria ; Easton, Douglas F. ; Bishop, D. Timothy ; Stratton, Michael R. ; Rapley, Elizabeth A. / Analysis of the DND1 gene in men with sporadic and familial testicular germ cell tumors. In: Genes Chromosomes and Cancer. 2008 ; Vol. 47, No. 3. pp. 247-252.
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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.",
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