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, Lawrence Einhorn, B. L. Weber, M. McMaster, M. H. Greene, D. T. Bishop, D. Easton, M. R. Stratton

Research output: Contribution to journalArticle

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Abstract

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
Pages (from-to)2397-2401
Number of pages5
JournalBritish Journal of Cancer
Volume90
Issue number12
StatePublished - Jun 14 2004

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Mutation
Exons
Germ-Line Mutation
Mastocytosis
Gastrointestinal Stromal Tumors
Testicular Neoplasms
Pedigree
Testicular Germ Cell Tumor
Germ Cells
Embryonic Development
Testis
Genes

Keywords

  • KIT
  • Testicular germ cell tumours

ASJC Scopus subject areas

  • Cancer Research
  • Oncology

Cite this

Rapley, E. A., Hockley, S., Warren, W., Johnson, L., Huddart, R., Crockford, G., ... Stratton, M. R. (2004). Somatic mutations of KIT in familial testicular germ cell tumours. British Journal of Cancer, 90(12), 2397-2401.

Somatic mutations of KIT in familial testicular germ cell tumours. / Rapley, E. A.; Hockley, S.; Warren, W.; Johnson, L.; Huddart, R.; Crockford, G.; Forman, D.; Leahy, M. G.; Oliver, D. T.; Tucker, K.; Friedlander, M.; Phillips, K. A.; Hogg, D.; Jewett, M. A S; Lohynska, R.; Daugaard, G.; Richard, S.; Heidenreich, A.; Geczi, L.; Bodrogi, I.; Olah, E.; Ormiston, W. J.; Daly, P. A.; Looijenga, L. H J; Guilford, P.; Aass, N.; Fosså, S. D.; Heimdal, K.; Tjulandin, S. A.; Liubchenko, L.; Stoll, H.; Weber, W.; Einhorn, Lawrence; Weber, B. L.; McMaster, M.; Greene, M. H.; Bishop, D. T.; Easton, D.; Stratton, M. R.

In: British Journal of Cancer, Vol. 90, No. 12, 14.06.2004, p. 2397-2401.

Research output: Contribution to journalArticle

Rapley, EA, Hockley, S, Warren, W, Johnson, L, Huddart, R, Crockford, G, Forman, D, Leahy, MG, Oliver, DT, Tucker, K, Friedlander, M, Phillips, KA, Hogg, D, Jewett, MAS, Lohynska, R, Daugaard, G, Richard, S, Heidenreich, A, Geczi, L, Bodrogi, I, Olah, E, Ormiston, WJ, Daly, PA, Looijenga, LHJ, Guilford, P, Aass, N, Fosså, SD, Heimdal, K, Tjulandin, SA, Liubchenko, L, Stoll, H, Weber, W, Einhorn, L, Weber, BL, McMaster, M, Greene, MH, Bishop, DT, Easton, D & Stratton, MR 2004, 'Somatic mutations of KIT in familial testicular germ cell tumours', British Journal of Cancer, vol. 90, no. 12, pp. 2397-2401.
Rapley EA, Hockley S, Warren W, Johnson L, Huddart R, Crockford G et al. Somatic mutations of KIT in familial testicular germ cell tumours. British Journal of Cancer. 2004 Jun 14;90(12):2397-2401.
Rapley, E. A. ; Hockley, S. ; Warren, W. ; Johnson, L. ; Huddart, R. ; Crockford, G. ; Forman, D. ; Leahy, M. G. ; Oliver, D. T. ; Tucker, K. ; Friedlander, M. ; Phillips, K. A. ; Hogg, D. ; Jewett, M. A S ; Lohynska, R. ; Daugaard, G. ; Richard, S. ; Heidenreich, A. ; Geczi, L. ; Bodrogi, I. ; Olah, E. ; Ormiston, W. J. ; Daly, P. A. ; Looijenga, L. H J ; Guilford, P. ; Aass, N. ; Fosså, S. D. ; Heimdal, K. ; Tjulandin, S. A. ; Liubchenko, L. ; Stoll, H. ; Weber, W. ; Einhorn, Lawrence ; Weber, B. L. ; McMaster, M. ; Greene, M. H. ; Bishop, D. T. ; Easton, D. ; Stratton, M. R. / Somatic mutations of KIT in familial testicular germ cell tumours. In: British Journal of Cancer. 2004 ; Vol. 90, No. 12. pp. 2397-2401.
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abstract = "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.",
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T1 - Somatic mutations of KIT in familial testicular germ cell tumours

AU - Rapley, E. A.

AU - Hockley, S.

AU - Warren, W.

AU - Johnson, L.

AU - Huddart, R.

AU - Crockford, G.

AU - Forman, D.

AU - Leahy, M. G.

AU - Oliver, D. T.

AU - Tucker, K.

AU - Friedlander, M.

AU - Phillips, K. A.

AU - Hogg, D.

AU - Jewett, M. A S

AU - Lohynska, R.

AU - Daugaard, G.

AU - Richard, S.

AU - Heidenreich, A.

AU - Geczi, L.

AU - Bodrogi, I.

AU - Olah, E.

AU - Ormiston, W. J.

AU - Daly, P. A.

AU - Looijenga, L. H J

AU - Guilford, P.

AU - Aass, N.

AU - Fosså, S. D.

AU - Heimdal, K.

AU - Tjulandin, S. A.

AU - Liubchenko, L.

AU - Stoll, H.

AU - Weber, W.

AU - Einhorn, Lawrence

AU - Weber, B. L.

AU - McMaster, M.

AU - Greene, M. H.

AU - Bishop, D. T.

AU - Easton, D.

AU - Stratton, M. R.

PY - 2004/6/14

Y1 - 2004/6/14

N2 - 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.

AB - 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.

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