At a glance
Also known as
Epidermal Growth Factor Receptor Mutation Analysis; HER-1; erbB-1
Why get tested?
To detect an EGFR
gene in tumour tissue to help guide treatment of non-small cell lung cancer
When to get tested?
When you have been diagnosed with non-small cell lung cancer and your health practitioner is considering treatment with such as gefitinib and erlotinib
A sample of cancer tissue obtained during a
Confused about genetics?
See our Genetics Information page
What is being tested?
EGFR is a short name for the epidermal growth factor receptor . This test detects in the EGFR gene in cancer tissue. This information is useful in guiding treatment of non-small cell lung cancer.
The EGFR gene codes for a specialised called a receptor located on the surface of cells. Receptors recognise and bind to other substances, and the binding typically has a specific effect on the cells. EGFR is one of a group of receptors called receptor that help regulate cell growth, division, survival, and death. This regulation is a very complex process involving the activation of a series of signals along various pathways. Receptor tyrosine kinases like EGFR transmit signals from the surface of the cell to within the cell.
In normal cells, the binding of epidermal growth factor to its receptor on the cell surface is an important signal that promotes cell proliferation. Certain mutations called "activating mutations" in the EGFR gene can result in excessive signalling for growth and uncontrolled proliferation of cancer cells.
Treatment that targets EGFR is a valuable molecular approach in cancer therapy. Examples of EGFR-targeted therapy include drugs such as gefitinib and erlotinib, which are small molecules called that enter cancer cells and impede signalling.
These drugs have been shown to be useful in treating non-small cell lung cancer (NSCLC). Studies have shown that targeted therapy with these TKIs will only work in a subset of NSCLC with specific activating mutations in the EGFR gene. If an activating mutation is present, as detected with an EGFR mutation test, then the drugs directed against EGFR are much more likely to be effective and the patient should benefit from targeted therapy.
How is the sample collected for testing?
A sample of cancer tissue is obtained by performing a .
Is any test preparation needed to ensure the quality of the sample?
No test preparation is needed.
Can I have my blood tested for EGFR mutations?
No. It is not the genetics of the person being evaluated but the of the tumour, so a sample of the tumour obtained with a is used for testing.
What is the difference between EGFR, also known as HER-1, and HER-2/neu?
EGFR and HER-2/neu
are both members of the same family of cell membrane receptors. When either EGFR or HER-2/neu is significantly increased in a cancer, it indicates a more aggressive tumour and a poorer patient . The primary differences between EGFR and HER-2/neu are that they are ordered to help evaluate different types of cancer and that the drugs that have been developed to target them are specific for that particular receptor, EGFR or HER-2/neu. HER-2/neu is used for evaluating breast cancer
Are there other types of testing performed to evaluate EGFR in tumours?
There is a test available that looks at the genetic level for ; it evaluates the number of copies of the present. Sometimes tests for EGFR gene amplification are used to determine the likely course () of cancer of the head and neck. Tumours with amplified EGFR tend to grow more aggressively, are more likely to , and are more resistant to standard chemotherapies. People with these tumours tend to have a poorer outcome.
Is EGFR mutation testing covered by Medicare?
mutation testing may be ordered by a specialist in the investigation of non-small cell lung cancer in relation to access to erlotinib or gefitinib under the Pharmaceutical Benefits Scheme (PBS). MBS item number 73337