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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...
Autores principales: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
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Formato: | Texto |
Lenguaje: | English |
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Nature Publishing Group
2004
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2410291/ https://www.ncbi.nlm.nih.gov/pubmed/15150569 http://dx.doi.org/10.1038/sj.bjc.6601880 |
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author | 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, L Weber, B L McMaster, M Greene, M H Bishop, D T Easton, D Stratton, M R |
author_facet | 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, L Weber, B L McMaster, M Greene, M H Bishop, D T Easton, D Stratton, M R |
author_sort | Rapley, E A |
collection | PubMed |
description | 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. |
format | Text |
id | pubmed-2410291 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2004 |
publisher | Nature Publishing Group |
record_format | MEDLINE/PubMed |
spelling | pubmed-24102912009-09-10 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, L Weber, B L McMaster, M Greene, M H Bishop, D T Easton, D Stratton, M R Br J Cancer Genetics and Genomics 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. Nature Publishing Group 2004-06-14 2004-05-18 /pmc/articles/PMC2410291/ /pubmed/15150569 http://dx.doi.org/10.1038/sj.bjc.6601880 Text en Copyright © 2004 Cancer Research UK https://creativecommons.org/licenses/by/4.0/This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made.The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material.If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit https://creativecommons.org/licenses/by/4.0/. |
spellingShingle | Genetics and Genomics 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, L 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 |
title | Somatic mutations of KIT in familial testicular germ cell tumours |
title_full | Somatic mutations of KIT in familial testicular germ cell tumours |
title_fullStr | Somatic mutations of KIT in familial testicular germ cell tumours |
title_full_unstemmed | Somatic mutations of KIT in familial testicular germ cell tumours |
title_short | Somatic mutations of KIT in familial testicular germ cell tumours |
title_sort | somatic mutations of kit in familial testicular germ cell tumours |
topic | Genetics and Genomics |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2410291/ https://www.ncbi.nlm.nih.gov/pubmed/15150569 http://dx.doi.org/10.1038/sj.bjc.6601880 |
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