The EGFR mutation is one of the most common mutations in non-small cell lung cancer. If you have EGFR-positive lung cancer, you can improve your outlook by taking a therapy that targets the mutation, such as an EGFR inhibitor.

“EGFR” stands for “epidermal growth factor receptor.”

The EGFR gene controls the production of EGFR proteins. EGFR proteins are found on both healthy and abnormal cells. They help cells grow and divide.

When cancer cells test positive for the EGFR protein, it means that the EGFR gene contains a mutation and is sending faulty instructions to the cells. This mutation allows cancer to grow and spread.

Read on to explore the specifics of EGFR lung cancer, a type of non-small cell lung cancer (NSCLC). You’ll also discover how the EGFR mutation affects treatment.

A mutation is an error in a specific part of the DNA. This type of error makes cells behave abnormally.

Certain errors cause cells to grow and divide at an unusually high rate, leading to cancer.

The most common EGFR mutations in people with lung cancer are the EGFR exon 19 deletion mutation and EGFR exon 21 L858R point mutation. They respond to targeted therapies called EGFR inhibitors.

Less common EGFR mutations, such as the EGFR exon 20 insertion mutation and EGFR exon T790M mutation, don’t usually respond to EGFR inhibitors.

There are two main types of lung cancer: small cell lung cancer (SCLC) and non-small cell lung cancer (NSCLC).

Around 80% to 85% of all lung cancers are NSCLC, according to the American Cancer Society (ACS).

There are three main subtypes of NSCLC:

  • Adenocarcinoma: Adenocarcinoma forms in the outer area of the lung. Most lung cancers are adenocarcinomas.
  • Squamous cell carcinoma: Squamous cell carcinoma usually forms near bronchii, or the airways.
  • Large cell carcinoma: This type of cancer can start anywhere in the lungs. In general, large cell carcinoma tends to spread faster than adenocarcinoma or squamous cell carcinoma. It’s also rarer than those two types.

The American Lung Association states that around 10% to 15% of lung cancers in the United States are EGFR positive. EGFR is one of the most common lung cancer mutations, according to a 2021 literature review.

In general, risk factors for lung cancer include:

  • smoking
  • genetics
  • exposure to air pollution
  • occupational exposures, such as to asbestos, metals, and diesel fumes

People with EGFR mutations are more likely to:

  • be female
  • have adenocarcinoma, when compared with other subtypes of NSCLC
  • have never smoked or to be light smokers

EGFR mutations also occur more often among certain Asian ethnic groups.

Did you know?

According to one large study, 12.5% of participants 20 years and older with lung cancer had never smoked. The researchers for this study looked at diverse groups of people across seven states.

Symptoms of EGFR-positive lung cancer are the same as those for other types of lung cancer.

You might not have any symptoms in the early stages. If you do, they may include:

  • hoarseness
  • chest pain
  • shortness of breath
  • wheezing
  • a cough
  • coughing up blood
  • frequent bronchitis, pneumonia, or other lung infections

These symptoms should not be ignored. According to the ACS, just 24% of lung cancers are diagnosed at a localized stage when it’s easier to treat.

As the cancer spreads, symptoms can include:

  • loss of appetite
  • unintended weight loss
  • headaches
  • bone pain
  • bone fractures
  • blood clots

When to schedule a medical appointment

It’s easier to treat cancer before it spreads. Schedule an appointment with a healthcare professional as soon as possible if you have:

  • a raspy voice or persistent cough
  • chest pain
  • shortness of breath and wheezing

If you smoke, ask a doctor whether you should have regular lung cancer screenings.

Was this helpful?

When you’re evaluated for lung cancer, your appointment will likely start with a physical exam and the collection of your medical history.

A healthcare professional may order imaging tests, such as a:

A lung cancer diagnosis can be confirmed with a biopsy. Doctors also use biopsies to test cancers for specific gene mutations. It’s now a routine part of diagnosing and staging lung cancer.

There are several ways to get the necessary tissue sample, including:

In 2016, the Food and Drug Administration (FDA) approved the first blood test for the EGFR mutation in NSCLC. This test, also known as a liquid biopsy, can help provide an accurate diagnosis if getting a tissue sample is difficult.

Treatment for lung cancer depends on its stage and type.

When cancer is diagnosed at a later stage, the goal of treatment is to slow disease progression and improve quality of life.

Cancer treatment may include:

  • chemotherapy
  • radiation therapy
  • immunotherapy
  • surgery

In most cases, chemotherapy is not a first-line treatment for cancer with EGFR mutations. The initial treatment for advanced EGFR-positive lung cancer is likely targeted therapy.

EGFR exon 19 deletion mutation

EGFR inhibitors are targeted therapies that work by blocking the activity of the EGFR protein.

The FDA has approved the following EGFR inhibitors for the EGFR exon 19 deletion mutation:

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

These medications are all administered orally.

EGFR exon 20 insertion mutation

The FDA has approved the following medications for this mutation:

  • amivantamab-vmjw (Rybrevant)
  • mobocertinib (Exkivity)

Both are intended for people who’ve already tried chemotherapy.

Unlike other targeted therapies for EGFR-positive lung cancer, amivantamab-vmjw (Rybrevant) is an antibody treatment and not an EGFR inhibitor. It’s also administered by intravenous (IV) infusion instead of orally.

EGFR exon 21 L858R point mutation

The FDA has approved the following EGFR inhibitors for this mutation:

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

These are the same medications used to treat NSCLCs with the EGFR exon 19 deletion mutation.

EGFR exon T790M mutation

The FDA has approved the following EGFR inhibitor for this mutation:

  • osimertinib (Tagrisso)

Other EGFR inhibitors

The FDA has also approved these EGFR inhibitors for certain metastatic cases:

  • afatinib (Gilotrif), an oral medication
  • necitumumab (Portrazza), which is given by IV infusion

While most targeted therapies are used to treat adenocarcinomas, these medications are both appropriate for the treatment of squamous cell carcinomas.

Necitumumab (Portrazza) must be taken along with the chemotherapy drugs gemcitabine (Infugem) and cisplatin.

Other targeted therapies

Angiogenesis inhibitors block the growth of new blood vessels that help fuel cancer. They include:

  • bevacizumab (Avastin), which must be taken along with the chemotherapy drugs carboplatin and paclitaxel
  • ramucirumab (Cyramza), which must be taken along with erlotinib (Tarceva) or the chemotherapy drug docetaxel (Taxotere)

These antibody treatments are given as IV infusions. Bevacizumab (Avastin) is indicated for advanced NSCLC, while ramucirumab (Cyramza) is indicated for metastatic NSCLC.

EGFR-positive lung cancer can eventually become resistant to a drug that’s been working.

If that happens, your doctor may have you switch to another FDA-approved treatment. They may also test your cancer for additional mutations and other biomarkers. This may open the door to more treatment options.

Side effects of EGFR inhibitors

Common side effects of EGFR inhibitors include:

  • diarrhea
  • loss of appetite
  • mouth sores
  • rash on the face and chest
  • skin infections

Lung cancer is treatable, and the use of targeted therapies has improved the outlook for people with EGFR lung cancer.

However, while EGFR inhibitors can control cancer progression for months or years, they’re not a cure.

The 5-year relative survival rate for NSCLC, based on U.S. people diagnosed between 2011 and 2017, is 26%.

When looking at lung cancer statistics, it’s important to remember that they’re a glance into the past. These statistics reflect diagnoses and treatments from at least 5 years ago, if not earlier. That’s before some targeted therapies were FDA-approved.

Your individual outlook will depend on a variety of factors, such as your:

  • stage at diagnosis
  • age and overall health
  • response to treatment

Your doctor will review all your medical information and give you a clearer picture of what to expect.