Lab 21 offers highly accurate EGFR mutation testing using the NICE recommended, CE-certified COBAS EGFR mutation test. The test requires sections of a formalin-fixed, paraffin embedded (FFPE) tumour block, which are used for extraction of tumour DNA. This DNA is then used for detection of EGFR mutations by real-time PCR.
Our test turnaround time is only 5 working days.
The tumours of all non-small cell lung cancer (NSCLC) patients considered for EGFR TKi (Gefitinib, Erlotinib) therapy must be tested for the presence of EGFR mutations before the drug can be prescribed, as the therapies are unlikely to be effective in patients without EGFR mutations.
EGFR stands for Epidermal Growth Factor Receptor. In humans, EGFR can also be called ErbB-1 or HER1. EGFR is a cell-surface receptor that binds epidermal growth factors, resulting in the activation of various signalling pathways inside the cell. These signalling pathways can have various effects, including cell growth, proliferation and migration. EGFR activation requires several steps, including the binding of a growth factor to EGFR on the outside of the cell, and activation of an intracellular part of EGFR, which acts as a tyrosine kinase enzyme.
EGFR protein is encoded by the EGFR gene. When the gene is not mutated, the protein functions normally. However, certain mutations in the EGFR gene result in the expression of EGFR protein that is constitutively active. This causes uncontrolled cell growth and proliferation – a hallmark of a cancer cell. Such EGFR gene mutations can be found in several types of cancer, and are thus called oncogenic (cancer-causing). In cancer, oncogenic EGFR mutations are normally found only in the tumour and are not inherited.
EGFR signalling pathway causes cell growth and proliferation via several signalling molecules, including KRAS and BRAF. Oncogenic mutations in these genes may cause cancer. The relevance of different genes may depend on the type of cancer.
The identification of the role of EGFR signalling pathway in cancer has led to the development of anti-cancer therapeutics directed against the EGFR protein, including Gefitinib (Iressa®, AstraZeneca) and Erlotinib (Tarceva®, Roche) for non-small-cell lung cancer, and Panitumumab (Vectibix®, Amgen) and Cetuximab (Erbitux®, Merck Serono) for colorectal cancer. The first two are small compound inhibitors of the intracellular tyrosine kinase region of EGFR, whereas the latter two are antibody proteins that block the extracellular region of EGFR.
EGFR gene mutations and EGFR tyrosine kinase inhibitors
The best studied oncogenic EGFR mutations are situated in the tyrosine kinase region of the EGFR gene. Oncogenic EGFR tyrosine kinase mutations tend to cause constitutive activation, on which the tumour relies to maintain its growth; no growth factor is required for EGFR signalling. Therefore, certain anticancer therapeutics that target the EGFR tyrosine kinase are only or especially effective in tumours with a mutated EGFR tyrosine kinase gene.
These therapeutics include Gefitinib (Iressa®) and Erlotinib (Tarceva®) for non-small cell lung cancer (NSCLC). The European Medicines Acency has approved these as first line treatments of NSCLC in patients whose tumours have mutated EGFR gene.
Information for test processing
To request EGFR testing, the first point of contact is the dedicated Lab 21 Customer Services Team who handle:
- Test Requests and Customer Support
- Liaison with Sample Retention Sites for sample retrieval if required
- Reporting of the results
Lab 21 provides a EGFR mutation testing service from its accredited clinical laboratory using an accurate, CE-marked test method. Please provide sections of formalin-fixed, paraffin embedded (FFPE) tumour. Full requirements for sample preparation can be seen on the sample handling instructions.