Strands of DNA run side by side

The Who, What, When, Why & How of Lung Cancer Tumor Mutations

Biomarker testing for tumor mutations is a newly expanding component of deciding how to treat lung cancer. Below are the basics of tumor mutations and how biomarker testing can fit into building a treatment plan.

Who qualifies for biomarker testing?

Genetic testing (or biomarker testing) to look for mutations in tumors is now recommended for most people diagnosed with non-small cell lung cancer (NSCLC). About 60 percent of patients with non-small cell lung adenocarcinoma will have an identifiable tumor mutation.

Why should I consider biomarker testing?

Lung cancer treatment is no longer one size fits all. Treatment options today often depend, at least in part, on tumor mutations found in cancer cells. Mutation may sound like something bad. However, in the case of lung cancer, having a specific tumor mutation can help doctors select personalized treatment options that target that mutation.

Over the last 20 years, researchers have studied and learned a tremendous amount about certain mutations that cause lung cancer cells to grow. This has led to the development of targeted therapies that pinpoint those mutations to slow tumor growth and/or shrink tumors.1

When do I receive biomarker testing?

Decisions about tumor mutation testing are ideally made before a biopsy is done. This helps ensure that a large enough sample is collected to do mutation testing. If a tumor grows during therapy, a doctor may recommend another biopsy so that additional mutation testing can be done. Sometimes new mutations occur that were not present in the initial tumor sample.

How does biomarker testing work?

Tissue is obtained for mutation testing through a biopsy. This might be a needle biopsy, a biopsy obtained during a bronchoscopy or a biopsy of a tumor that has been removed during a lung surgery.

A liquid biopsy, which is done through a simple blood test, is now sometimes done when a person is on a targeted therapy to determine if a tumor is becoming resistant to treatment or if new mutations are present.

What is biomarker testing?

It is important to understand that these tumor mutations are known as acquired or somatic mutations. Acquired mutations are present only in tumor cells. They are not something you are born with and they cannot be passed on to your children. Researchers are not sure why they develop. Tumor mutations are very different from inherited mutations, which are found in all cells of the body, not only tumor cells, are present from birth, and can be passed on to children.

Common mutations and treatment options

This chart shows some of the common genetic mutations found in non-small cell lung cancer and the therapies that have been developed to target them.1

Mutation% of people with NSCLC who have this mutationApproved therapies
ALK3-7%crizotinib (Xalkori), ceritinib (Zykadia), alectinib (Alecensa), brigatinib (Alunbrig), lorlatinib (Lorbrena)
BRAF1-4%trametinib (Mekinist) & dabrafenib (Tafinlar)
EGFR10-15%gefitinib (Iressa), erlotinib (Tarceva), afatinib (Gilotrif), osimertinib (Tagrisso), dacomitinib (Vizimpro)
ROS11-2%Crizotinib (Xalkori)

The future of lung cancer treatment

In addition to these, there are many, many other lung cancer tumor mutations being studied in laboratories, and many other targeted therapies being developed and studied in clinical trials to target these mutations.

The landscape of therapy for non-small cell lung cancer has grown tremendously over the last 10 years, and this growth is expected to continue. More importantly, these new targeted therapies are helping people with lung cancer live longer with fewer side effects.

By providing your email address, you are agreeing to our privacy policy.

More on this topic

This article represents the opinions, thoughts, and experiences of the author; none of this content has been paid for by any advertiser. The team does not recommend or endorse any products or treatments discussed herein. Learn more about how we maintain editorial integrity here.

Join the conversation

or create an account to comment.

Community Poll

Which do you most want to learn more about on