Somatic mutations of KIT in familial testicular germ cell tumours

E. A. Rapley, S. Hockley, W. Warren, L. Johnson, R. Huddart, G. Crockford, D. Forman, M. G. Leahy, D. T. Oliver, K. Tucker, M. Friedlander, K. A. Phillips, D. Hogg, M. A.S. Jewett, R. Lohynska, G. Daugaard, S. Richard, A. Heidenreich, L. Geczi, I. BodrogiE. Olah, W. J. Ormiston, P. A. Daly, L. H.J. Looijenga, P. Guilford, N. Aass, S. D. Fosså, K. Heimdal, S. A. Tjulandin, L. Liubchenko, H. Stoll, W. Weber, L. Einhorn, B. L. Weber, M. McMaster, M. H. Greene, D. T. Bishop, D. Easton, M. R. Stratton

Research output: Contribution to journalArticle

74 Scopus citations


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-add 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.

Original languageEnglish (US)
Pages (from-to)2397-2401
Number of pages5
JournalBritish Journal of Cancer
Issue number12
StatePublished - Jun 14 2004


  • KIT
  • Testicular germ cell tumours

ASJC Scopus subject areas

  • Cancer Research
  • Oncology

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