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 Daly; Parry 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

doi:10.1002/gcc.20526

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

35 Citationer (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.

Originalsprog	Engelsk
Tidsskrift	Genes, Chromosomes & Cancer
Vol/bind	47
Udgave nummer	3
Sider (fra-til)	247-52
Antal sider	6
ISSN	1045-2257
DOI	https://doi.org/10.1002/gcc.20526
Status	Udgivet - mar. 2008
Udgivet eksternt	Ja

Adgang til dokumentet

10.1002/gcc.20526

Citationsformater

Linger, R., Dudakia, D., Huddart, R., Tucker, K., Friedlander, M., Phillips, K.-A., Hogg, D., Jewett, M. A. S., Lohynska, R., Daugaard, G., Richard, S., Chompret, A., Stoppa-Lyonnet, D., Bonaïti-Pellié, C., Heidenreich, A., Albers, P., Olah, E., Geczi, L., Bodrogi, I., ... Rapley, E. A. (2008). Analysis of the DND1 gene in men with sporadic and familial testicular germ cell tumors. Genes, Chromosomes & Cancer, 47(3), 247-52. https://doi.org/10.1002/gcc.20526

Linger, R, Dudakia, D, Huddart, R, Tucker, K, Friedlander, M, Phillips, K-A, 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 & Cancer, bind 47, nr. 3, s. 247-52. https://doi.org/10.1002/gcc.20526

@article{36e864843c504c73866c0d9f325065b3,

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.",

keywords = "DNA Mutational Analysis, Family Health, Genetic Predisposition to Disease, Humans, Male, Mutation, Neoplasm Proteins/genetics, Neoplasms, Germ Cell and Embryonal/etiology, Polymerase Chain Reaction, Testicular Neoplasms/etiology",

author = "Rachel Linger and Darshna Dudakia and Robert Huddart and Kathy Tucker and Michael Friedlander and Kelly-Anne Phillips and David Hogg and Jewett, {Michael A S} and Radka Lohynska and Gedske Daugaard and St{\'e}phane Richard and Agnes Chompret and Dominique Stoppa-Lyonnet and Catherine Bona{\"i}ti-Pelli{\'e} and Axel Heidenreich and Peter Albers and Edith Olah and Lajos Geczi and Istvan Bodrogi and Daly, {Peter A} and Parry Guilford and Foss{\aa}, {Sophie D} and Ketil Heimdal and Tjulandin, {Sergei A} and Ludmila Liubchenko and Hans Stoll and Walter Weber and Lawrence Einhorn and Mary McMaster and Larissa Korde and Greene, {Mark H} and Nathanson, {Katherine L} and Victoria Cortessis and Easton, {Douglas F} and Bishop, {D Timothy} and Stratton, {Michael R} and Rapley, {Elizabeth A}",

year = "2008",

month = mar,

doi = "10.1002/gcc.20526",

language = "English",

volume = "47",

pages = "247--52",

journal = "Genes, Chromosomes & Cancer",

issn = "1045-2257",

publisher = "John/Wiley & Sons, Inc. John/Wiley & Sons Ltd",

number = "3",

}

TY - JOUR

T1 - Analysis of the DND1 gene in men with sporadic and familial testicular germ cell tumors

AU - Linger, Rachel

AU - Dudakia, Darshna

AU - Huddart, Robert

AU - Tucker, Kathy

AU - Friedlander, Michael

AU - Phillips, Kelly-Anne

AU - Hogg, David

AU - Jewett, Michael A S

AU - Lohynska, Radka

AU - Daugaard, Gedske

AU - Richard, Stéphane

AU - Chompret, Agnes

AU - Stoppa-Lyonnet, Dominique

AU - Bonaïti-Pellié, Catherine

AU - Heidenreich, Axel

AU - Albers, Peter

AU - Olah, Edith

AU - Geczi, Lajos

AU - Bodrogi, Istvan

AU - Daly, Peter A

AU - Guilford, Parry

AU - Fosså, Sophie D

AU - Heimdal, Ketil

AU - Tjulandin, Sergei A

AU - Liubchenko, Ludmila

AU - Stoll, Hans

AU - Weber, Walter

AU - Einhorn, Lawrence

AU - McMaster, Mary

AU - Korde, Larissa

AU - Greene, Mark H

AU - Nathanson, Katherine L

AU - Cortessis, Victoria

AU - Easton, Douglas F

AU - Bishop, D Timothy

AU - Stratton, Michael R

AU - Rapley, Elizabeth A

PY - 2008/3

Y1 - 2008/3

N2 - 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.

AB - 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.

KW - DNA Mutational Analysis

KW - Family Health

KW - Genetic Predisposition to Disease

KW - Humans

KW - Male

KW - Mutation

KW - Neoplasm Proteins/genetics

KW - Neoplasms, Germ Cell and Embryonal/etiology

KW - Polymerase Chain Reaction

KW - Testicular Neoplasms/etiology

U2 - 10.1002/gcc.20526

DO - 10.1002/gcc.20526

M3 - Journal article

C2 - 18069663

SN - 1045-2257

VL - 47

SP - 247

EP - 252

JO - Genes, Chromosomes & Cancer

JF - Genes, Chromosomes & Cancer

IS - 3

ER -

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

Abstract

Adgang til dokumentet

Fingeraftryk

Citationsformater