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Title: Analysis of the DND1 gene in men with sporadic and familial testicular germ cell tumors.
Authors: Linger R,  Dudakia D,  Huddart R,  Tucker K,  Friedlander M,  Phillips KA,  Hogg D,  Jewett MA,  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
Journal: Genes Chromosomes Cancer
Date: 2008 Mar
Branches: CGB, ITEB, CGR
PubMed ID: 18069663
PMC ID: PMC3109865
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.