Article (Scientific journals)
The human epidermal growth factor receptor (EGFR) gene in European patients with advanced colorectal cancer harbors infrequent mutations in its tyrosine kinase domain.
Metzger, B.; Chambeau, L.; Begon, Dominique et al.
2011In BMC Medical Genetics, 12 (1), p. 144
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Abstract :
[en] ABSTRACT: BACKGROUND: The 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). METHODS: We 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. RESULTS: EGFR 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. CONCLUSIONS: These 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.
Disciplines :
Oncology
Author, co-author :
Metzger, B.
Chambeau, L.
Begon, Dominique ;  Université de Liège - ULiège > Département des sciences biomédicales et précliniques > Anatomie et cytologie pathologiques
Faber, C.
Kayser, J.
Berchem, Guy
Pauly, M.
Boniver, Jacques ;  Université de Liège - ULiège > Département des sciences biomédicales et précliniques > Département des sciences biomédicales et précliniques
Delvenne, Philippe ;  Université de Liège - ULiège > Département des Sciences Biomédicales et précliniques
Dicato, Mario
Wenner, T.
Language :
English
Title :
The human epidermal growth factor receptor (EGFR) gene in European patients with advanced colorectal cancer harbors infrequent mutations in its tyrosine kinase domain.
Publication date :
2011
Journal title :
BMC Medical Genetics
eISSN :
1471-2350
Publisher :
BioMed Central, United Kingdom
Volume :
12
Issue :
1
Pages :
144
Peer reviewed :
Peer Reviewed verified by ORBi
Available on ORBi :
since 10 November 2011

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