The human epidermal growth factor receptor (EGFR) gene in European patients with advanced colorectal cancer harbors infrequent mutations in its tyrosine kinase domain

BMC Medical Genetics

Research Article

Dominique Y Begon¹  Jacques Boniver¹  Philippe Delvenne¹  Brigitte Metzger²  Laetitia Chambeau²  Thomas Wenner²  Marc Pauly²  Mario Dicato³  Guy Berchem⁴  Carlo Faber⁵  Jacques Kayser⁵ 

[1] Département d'anatomie pathologique, Université de Liège, Avenue de l'Hôpital, 1 (B34), GIGA-Research, CHU Sart-Tilman, 4000, Liège, Belgium;Laboratoire de Recherche sur le Cancer et les Maladies du Sang, 4, rue Ernest Barblé, L-1210, Luxembourg, Luxembourg;Laboratoire de Recherche sur le Cancer et les Maladies du Sang, 4, rue Ernest Barblé, L-1210, Luxembourg, Luxembourg;Service d'Hémato-Cancérologie, Centre Hospitalier, 4, rue Ernest Barblé, L-1210, Luxembourg, Luxembourg;Service d'Hémato-Cancérologie, Centre Hospitalier, 4, rue Ernest Barblé, L-1210, Luxembourg, Luxembourg;Service de Chirurgie, Clinique Ste Thérèse, ZithaKlinik, 36, rue Sainte Zithe, L-2763, L-2763, Luxembourg, Luxembourg;

关键词: Epidermal Growth Factor Receptor;    Epidermal Growth Factor Receptor Mutation;    Panitumumab;    Epidermal Growth Factor Receptor Gene;    Tyrosine Kinase Domain;   

DOI  :  10.1186/1471-2350-12-144

 received in 2011-05-26, accepted in 2011-10-25,  发布年份 2011

来源: Springer

【 摘 要 】

BackgroundThe epidermal growth factor receptor (EGFR), a member of the ErbB family of receptors, is a transmembrane tyrosine kinase (TK) activated by the binding of extracellular ligands of the EGF-family and involved in triggering the MAPK signaling pathway, which leads to cell proliferation. Mutations in the EGFR tyrosine kinase domain are frequent in non-small-cell lung cancer (NSCLC). However, to date, only very few, mainly non-European, studies have reported rare EGFR mutations in colorectal cancer (CRC).MethodsWe screened 236 clinical tumor samples from European patients with advanced CRC by direct DNA sequencing to detect potential, as yet unknown mutations, in the EGFR gene exons 18 to 21, mainly covering the EGFR TK catalytic domain.ResultsEGFR sequences showed somatic missense mutations in exons 18 and 20 at a frequency of 2.1% and 0.4% respectively. Somatic SNPs were also found in exons 20 and 21 at a frequency of about 3.1% and 0.4% respectively. Of these mutations, four have not yet been described elsewhere.ConclusionsThese mutation frequencies are higher than in a similarly sized population characterized by Barber and colleagues, but still too low to account for a major role played by the EGFR gene in CRC.

【 授权许可】

Unknown   
© Metzger et al; licensee BioMed Central Ltd. 2011. This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.