Document Detail


Screening for germline DND1 mutations in testicular cancer patients.
MedLine Citation:
PMID:  20411342     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Although several observations suggest that a strong genetic predisposition to developing testicular germ cell tumors (TGCT) exists, no associated, highly penetrant germline mutations have been identified so far. In the 129/Sv mouse strain, a germline mutation in the DND1 gene has been shown to strongly increase the TGCT risk. We screened 272 men with TGCT (89% sporadic cases, 11% familial) for germline mutations in the human homologue of DND1. A single nucleotide substitution c.657C > G (p.Asp219Glu) was observed in a non-familial case of testicular embryonal carcinoma. The variant was also present in the patient's asymptomatic father and two brothers, but not observed in 210 control chromosomes. The wild type DND1 allele was not lost in the patient's tumor. In silico analysis of the variant predicts it to be non-pathogenic. We conclude that germline DND1 mutations are unlikely to contribute significantly to human testicular germ cell tumor susceptibility. The role of human DND1 in normal physiology and disease, however, is still virtually unknown and it therefore warrants further research.
Authors:
Rolf H Sijmons; Yvonne J Vos; Johanna C Herkert; Krista K Bos; Martijn F Lutke Holzik; Josette E H M Hoekstra-Weebers; Robert M W Hofstra; Harald J Hoekstra
Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Familial cancer     Volume:  9     ISSN:  1573-7292     ISO Abbreviation:  Fam. Cancer     Publication Date:  2010 Sep 
Date Detail:
Created Date:  2010-08-16     Completed Date:  2010-12-02     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  100898211     Medline TA:  Fam Cancer     Country:  Netherlands    
Other Details:
Languages:  eng     Pagination:  439-42     Citation Subset:  IM    
Affiliation:
Department of Genetics, University Medical Center Groningen, University of Groningen, PO Box 30001, 9700 RB, Groningen, The Netherlands. r.h.sijmons@medgen.umcg.nl
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MeSH Terms
Descriptor/Qualifier:
Adult
Base Sequence
Genetic Predisposition to Disease*
Germ-Line Mutation
Humans
Male
Molecular Sequence Data
Neoplasm Proteins / genetics*
Neoplasms, Germ Cell and Embryonal / genetics*
Pedigree
Testicular Neoplasms / genetics*
Chemical
Reg. No./Substance:
0/Dnd1 protein, human; 0/Neoplasm Proteins
Comments/Corrections

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