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EGFR - Gene Mutation Analysis                                                               

In different cancer types, in particular those of lung and colorectum, certain subsets of patients have been shown to benefit from anti-EGFR therapies. In non-small-cell lung cancer there is compelling evidence that response to both gefitinib (Iressa™) and erlotinib (Tarceva™) is associated with EGFR gene copy number, as well as with the presence of certain activating mutations of the EGFR gene. The picture is less clear with respect to the expression of the receptor protein itself, and the use of immunohistochemistry to evaluate levels of expression is of questionable utility.   

 Image of real-time PCR readout for EGFR gene mutations using the DxS Therascreen EGFR29 kit

Source BioScience offers EGFR mutation testing based on the CE-IVD marked Therascreen™ EGFR29 Mutation Test. This test is suitable for FFPE archival material, and detects the 29 most common somatic mutations found in the EGFR gene. In particular deletions in exon 19 and, in expn 20, the L858R pointy mutation, make tumours more sensitive to the small molecule inhibitors of EGFR gefitinib and erlotinib. The results of mutation tests are reported as positive or negative for the presence of a particular mutation and the relative frequency of that mutation in the tumour sample.

 

Note: There is a growing body of evidence that certain inherited gene alterations (SNPs or single nucleotide polymorphisms) in the EGFR gene may be linked to treatment response in breast and lung cancers. Testing for polymorphisms is also available through Source BioScience (please contact us for details).

 

References:

Jimeno and Hidalgo (2006) Pharmacogenomics of epidermal growth factor (EGFR) inhibitors. Biochim Biophys Acta 1766:217

Cappuzzo et al. (2005) Epidermal Growth Factor Receptor gene and protein and gefitinib sensitivity in non-small-cell lung cancer. J Natl Cancer Inst 97:643