Egfr gene

The acronym EGFR stands for "Epidermal Growth Factor Receptor". The EGF receptor belongs to the family of EGF growth factor receptors and is essentially involved in the control of cell growth and programmed cell death. It is therefore of outstanding importance for the pathogenesis of various tumors.

More than 90% of the EGFR gene mutations involve a small section of the EGFR gene of exons 18 to 21, with the most frequent mutations involving exon 19 (deletion without grid shift, codons 746 to 750) and exon 21 (point mutation L858R, substitution leucine to arginine in codon 858).

Activating mutations in the EGF receptor gene correlate with the effectiveness of tyrosine kinase inhibitors. However, these mutations are only present in 5-20% of non-small cell lung cancer (NSCLC). About 75% of NSCLC tumours with EGFR mutation respond to tyrosine kinase inhibitors (TKI). Mutations in the EGFR gene can also be detected in acrolentiginous melanoma.