Somatic mutations of KIT in familial testicular germ cell tumours
| Autor: | Lawrence H. Einhorn, Axel Heidenreich, István Bodrogi, Sophie D. Fosså, Stéphane Richard, Ludmila Liubchenko, Leendert H. J. Looijenga, Mary L. McMaster, Sergei Tjulandin, Wilma Ormiston, D T Bishop, Robert Huddart, Peter A. Daly, David W. Hogg, Barbara L. Weber, Parry Guilford, Michael Friedlander, E. Olah, Gillian P. Crockford, M. G. Leahy, Mark H. Greene, L. Johnson, David Forman, William H. Warren, Gedske Daugaard, S. Hockley, E. A. Rapley, Kelly-Anne Phillips, Nina Aass, Ketil Heimdal, Katherine M. Tucker, Walter P. Weber, Radka Lohynska, Michael A.S. Jewett, Doug Easton, Michael R. Stratton, Hans Stoll, D. T. Oliver, Lajos Géczi |
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| Přispěvatelé: | University of Groningen, Pathology |
| Rok vydání: | 2004 |
| Předmět: |
EXPRESSION
Male Cancer Research Somatic cell Urology DNA Mutational Analysis Biology Exon Germline mutation Testicular Neoplasms Genetic predisposition medicine Coding region Missense mutation Humans Gene Testicular cancer Germ-Line Mutation Genetics business.industry Embryogenesis Cancer Genetics and Genomics KIT testicular germ cell tumours Exons Neoplasms Germ Cell and Embryonal medicine.disease CANCER GENE Pedigree Proto-Oncogene Proteins c-kit SINGLE Oncology TISSUE Cancer research business |
| Zdroj: | Scopus-Elsevier British Jounal of Cancer, 90(12), 2397-2401. Nature Publishing Group British Journal of Cancer, 90, 2397-2401. Nature Publishing Group British Journal of Cancer |
| ISSN: | 0007-0920 |
| Popis: | Somatic mutations of KIT in familial testicular germ cell tumours Somatic mutations of the KIT gene have been reported in mast cell diseases and gastrointestinal stromal tumours. Recently, they have also been found in mediastinal and testicular germ cell tumours (TGCTs), particularly in cases with bilateral disease. We screened the KIT coding sequence ( except exon 1) for germline mutations in 240 pedigrees with two or more cases of TGCT. No germline mutations were found. Exons 10, 11 and 17 of KIT were examined for somatic mutations in 123 TGCT from 93 multiple-case testicular cancer families. Five somatic mutations were identified; four were missense amino-acid substitutions in exon 17 and one was a 12 bp in-frame deletion in exon 11. Two of seven TGCT from cases with bilateral disease carried KIT mutations compared with three out of 116 unilateral cases ( P = 0.026). The results indicate that somatic KIT mutations are implicated in the development of a minority of familial as well as sporadic TGCT. They also lend support to the hypothesis that KIT mutations primarily take place during embryogenesis such that primordial germ cells with KIT mutations are distributed to both testes. |
| Databáze: | OpenAIRE |
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