Understanding lung cancer mutation testing
What is lung cancer mutation testing?
Lung cancer mutation testing are laboratory tests that look for specific changes (mutations) in the genes of cancer cells. These mutations can influence how the cancer grows and responds to treatment. The results help your healthcare team choose the most effective treatment for your type of lung cancer.
Why is mutation testing important?
Not all lung cancers are the same. Some lung cancers have genetic changes that can be targeted with specific medicines, known as targeted therapies. Mutation testing can help identify whether these treatments may be suitable for you. It can also help avoid treatments that are less likely to be effective. It is often better to have the right treatment than a fast treatment that is less specific. We also follow national guidelines in the decision about treatment options.
Who is offered mutation testing?
Mutation testing is commonly recommended for patients diagnosed with certain types of lung cancer, particularly non-small cell lung cancer (NSCLC). Your doctor or specialist nurse will explain whether mutation testing is appropriate for you.
How is the test performed?
Mutation testing is usually carried out on a sample of tumour tissue obtained during a biopsy or surgery.
In some cases, a blood sample may be used. This is sometimes called a "liquid biopsy" because it looks for tumour DNA circulating in the bloodstream.
No additional preparation is usually required.
Which mutations are tested?
The laboratory may test for several genetic changes that can occur in lung cancer cells, including:
- EGFR mutations
- ALK rearrangements
- ROS1 rearrangements
- BRAF mutations
- MET alterations
- RET rearrangements
- KRAS mutations
- NTRK gene fusions
The specific tests performed may vary depending on your diagnosis and local guidelines.
What other tests are performed?
The laboratory may also look at the proteins on the surface of the cancer cells which can mean that immunotherapy might be useful as part of your treatment.
- PDL1 levels
What do the results mean?
A mutation is found
If a mutation is identified, your healthcare team may recommend a targeted therapy designed to act against cancer cells with that specific genetic change.
No mutation is found
If no relevant mutation is detected, standard treatment options may be recommended, such as chemotherapy, immunotherapy, radiotherapy, surgery, or a combination of these treatments.
How long will results take?
Results are usually available within two to four weeks, depending on the type of test being performed and referral to other laboratories to process the sample.
Your healthcare team will inform you when to expect your results.
Are there any risks?
Mutation testing itself carries very little risk. Any risks are generally related to the procedure used to obtain the tissue sample, such as a biopsy.
Your doctor will explain any potential risks before the procedure.
Will my genetic information be shared?
The mutations tested in lung cancer mutation testing are usually changes found only in the cancer cells and are not normally inherited. Your results will be handled confidentially in accordance with healthcare privacy rules.
Questions you may wish to ask your healthcare team
- Why am I being offered mutation testing?
- Which mutations will be tested?
- How long will the results take?
- Could the results affect my treatment options?
- Would a targeted therapy be suitable for me?
- Do I need any further tests?
Further Information
If you have any questions about mutation testing, please speak with your doctor, specialist nurse, or member of your cancer care team. They can provide information specific to your diagnosis and treatment plan.
Your specialist lung cancer nurses will work with your respiratory and oncology team to make sure full results are available as soon as possible prior to treatment discussions. Our direct line is 01895 279584.