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

• Main Authors: Delvenne Philippe (Author), Boniver Jacques (Author), Pauly Marc (Author), Berchem Guy (Author), Kayser Jacques (Author), Faber Carlo (Author), Begon Dominique Y (Author), Chambeau Laetitia (Author), Metzger Brigitte (Author), Dicato Mario (Author), Wenner Thomas (Author)
• Format: Book
• Published: BMC, 2011-10-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Summary

<p>Abstract</p> <p>Background</p> <p>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).</p> <p>Methods</p> <p>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 <it>EGFR </it>gene exons 18 to 21, mainly covering the EGFR TK catalytic domain.</p> <p>Results</p> <p>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.</p> <p>Conclusions</p> <p>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 <it>EGFR </it>gene in CRC.</p>

Item Description

10.1186/1471-2350-12-144
1471-2350