An EGFR gene mutation is one of the biomarkers a doctor often tests for after making a diagnosis of non-small cell lung cancer (NSCLC). If you have EGFR-positive lung cancer, it means you have one of these mutations in your DNA.

EGFR mutations affect about 1 in 3 people with NSCLC, according to a 2016 systematic review and analysis. By identifying specific mutations in lung cancer, doctors can develop effective NSCLC treatment plans.

Here, we’ll explain more about EGFR-positive lung cancer and answer some frequently asked questions.

EGFR-positive lung cancer means that there’s a change in part of the tumor’s DNA. This change, known as a mutation, may be helping it grow. This is common among people with lung cancer who rarely or never smoked.

EGFR is short for epidermal growth factor receptor. It’s a protein that helps cells grow, and it’s found on both healthy cells and cancer cells. A mutation in this gene can cause cells to reproduce at an extremely high rate, which can lead to cancer.

A biomarker test can show which type of EGFR mutation you have and where the mutation is in your DNA.

Around 90 percent of all EGFR mutations are either an EGFR 19 deletion or an EGFR L858R point mutation, according to a Korean study from 2020. A literature review from 2021 found that as many as 12 percent of people with an EGFR mutation have a type called the exon 20 insertion mutation.

EGFR mutations are just one of many DNA mutations found in lung cancer. Others include:

  • ALK rearrangements
  • HER2 mutations
  • KRAS mutations
  • MET amplifications
  • ROS1 rearrangements

If you don’t have an EGFR mutation, your cancer is considered EGFR-negative.

If you have EGFR-positive lung cancer, it means your EGFR proteins are not functioning properly. As a result, your cells are growing and dividing much faster than they should. This uncontrolled growth can lead cancer cells to divide (and spread) more quickly.

After making a lung cancer diagnosis, a healthcare professional can use a tissue biopsy to determine which genetic mutations may be involved.

Knowing you have EGFR-positive lung cancer tells you information about the cancer. But it’s the specific type of EGFR mutation that helps guide treatments.

For example, EGFR 19 deletions and EGFR L858R point mutations respond well to tyrosine kinase inhibitors (TKIs), which are also called EGFR inhibitors.

Drugs that target the EGFR protein and block its activity include:

  • afatinib (Gilotrif)
  • dacomitinib (Vizimpro)
  • erlotinib (Tarceva)
  • gefitinib (Iressa)
  • osimertinib (Tagrisso)

The most effective treatment will depend on which type of EGFR mutation you have.

Some types don’t respond to certain treatments. For example, many TKIs don’t work on NSCLC with the EGFR exon 20 insertion mutation, per 2020 research. Fortunately, new treatments are being developed for this particular mutation.

In May 2021, the Food and Drug Administration (FDA) approved amivantamab-vmjw (Rybrevant), the first treatment for adults with NSCLC tumors that have EGFR exon 20 insertion mutations.

A month before that, the FDA granted a priority review to mobocertinib. Priority review means that the FDA is fast-tracking its evaluation of this medication because it may significantly boost the safety or effectiveness of treatment for cancer with this specific genetic mutation.

Clinical trials for mobocertinib are ongoing.

EGFR-positive lung cancer is not yet curable, but treatments can slow the progression of the disease for many years.

Treatments for EGFR-positive lung cancer may include:

  • surgery
  • chemotherapy
  • radiation therapy
  • TKIs or EGFR inhibitors
  • immunotherapy
  • targeted therapy drugs

The exact treatment options your doctor recommends may depend on which type of EGFR mutation you have and how your cancer has responded to prior treatments, among other factors.

Some EGFR-positive lung cancers are more difficult to treat than others.

Those with the exon 20 insertion mutation generally have a poorer outlook than people with other types of EGFR-positive NSCLC due to limited availability of treatment options. However, research is ongoing and recent advancements in treatments could improve the outlook for NSCLC with this mutation.

Over time, lung cancer can become resistant to some treatments. If that happens, your doctor may recommend additional biomarker testing to check for other mutations that may respond to additional treatments.

The outlook for people with EGFR-positive lung cancer depends on many factors, such as your:

  • age
  • overall health
  • stage at diagnosis
  • specific EGFR mutation
  • response to treatment

The outlook for NSCLC is improving.

According to the American Cancer Society, 42 percent of people diagnosed with NSCLC from 2015 to 2016 lived at least 2 years, up from 34 percent who were diagnosed between 2009 and 2010. As of 2021, 25 percent of people live at least 5 years after finding out they have NSCLC.

Life expectancy for people with NSCLC and the EGFR exon 20 insertion mutation may not be as long as it is for people with other EGFR mutations.

However, survival statistics are based on people who were diagnosed and treated at least 5 years ago. Treatments introduced in recent years or those still in clinical trials are not represented in these numbers and may improve the outlook.

Keep in mind that these statistics are based on large groups of people, not your individual situation. They are also based on data that’s at least a few years old. Advancements in treatments may already be improving the outlook for people with EGFR-positive NSCLC.

Talk with a doctor about how these figures may apply to you, considering your health and response to treatment.

EGFR mutations are biomarkers associated with lung cancer. Biomarker testing can show which genetic mutations you have that may be affecting your lung cancer.

These mutations provide important information about the cancer and how it may respond to different treatments. Some treatments, like TKIs, specifically target some EGFR mutations to help stop tumors from growing.

While EGFR-positive NSCLC is not curable yet, treatments can slow the progression of the disease for years.

Talk with a doctor to learn more about EGFR-positive NSCLC and which treatments might be effective for a specific mutation.