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EGFR gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

EGFR gene

The EGFR gene provides instructions for making the epidermal growth factor receptor, a protein that regulates cell growth, division, and survival.

Normal Function

The EGFR gene provides instructions for making a receptor protein called the epidermal growth factor receptor, which spans the cell membrane so that one end of the protein remains inside the cell and the other end projects from the outer surface of the cell. This positioning allows the receptor to attach (bind) to other proteins, called ligands, outside the cell and to receive signals that help the cell respond to its environment. Ligands and receptors fit together like keys into locks. Epidermal growth factor receptor binds to at least seven different ligands. The binding of a ligand to epidermal growth factor receptor allows the receptor to attach to another nearby epidermal growth factor receptor protein (dimerize), turning on (activating) the receptor complex. As a result, signaling pathways within the cell are triggered that promote cell growth and division (proliferation) and cell survival.

Health Conditions Related to Genetic Changes

Cholangiocarcinoma

MedlinePlus Genetics provides information about Cholangiocarcinoma.

Lung cancer

At least eight mutations in the EGFR gene have been associated with lung cancer. Lung cancer is a disease in which certain cells in the lungs become abnormal and multiply uncontrollably to form a tumor. Nearly all these EGFR gene mutations occur during a person's lifetime (somatic) and are present only in cancer cells.

Somatic mutations in the EGFR gene most often occur in a type of lung cancer called non-small cell lung cancer, specifically a form called adenocarcinoma. These mutations are most common in people with the disease who have never smoked. Somatic EGFR gene mutations occur more frequently in Asian populations than in white populations.

Most of the somatic EGFR gene mutations that are associated with lung cancer delete genetic material in a part of the gene known as exon 19 or change DNA building blocks (nucleotides) in another region called exon 21. These gene changes result in a receptor protein that is constantly turned on (constitutively activated), even when it is not bound to a ligand. As a result, cells constantly receive signals to proliferate and survive, leading to tumor formation. Lung cancers with EGFR gene mutations tend to respond to treatments that specifically target the overactive epidermal growth factor receptor protein.

Other Names for This Gene

  • cell growth inhibiting protein 40
  • cell proliferation-inducing protein 61
  • erb-b2 receptor tyrosine kinase 1
  • ERBB
  • ERBB1
  • HER1
  • mENA
  • NISBD2
  • PIG61
  • proto-oncogene c-ErbB-1
  • receptor tyrosine-protein kinase erbB-1

Frequently Asked Questions

The EGFR mutations that drive lung cancer are somatic, meaning they arise in the tumor cells during a person’s lifetime and are not present in the germline DNA. Therefore, they are not inherited, and routine genetic testing of relatives is not indicated solely because of an EGFR‑positive tumor. However, if a family history suggests a hereditary cancer syndrome, broader genetic counseling may be appropriate.
The most common first‑line EGFR TKIs are erlotinib, gefitinib, afatinib, and osimertinib. Osimertinib is often preferred because it also covers the T790M resistance mutation and penetrates the brain better. Common side effects include rash, diarrhea, dry skin, and mild nausea; serious but less frequent toxicities can be interstitial lung disease or liver enzyme elevations, so regular monitoring with blood tests and symptom checks is essential.
Yes. Testing for EGFR mutations is recommended for all patients with newly diagnosed non‑small cell lung cancer, especially adenocarcinoma, because the presence of an activating EGFR mutation determines eligibility for targeted tyrosine‑kinase inhibitor (TKI) therapy, which can improve response rates and progression‑free survival compared with standard chemotherapy.
small sample of tumor tissue—usually obtained by bronchoscopy, needle biopsy, or surgical resection—is sent to a molecular pathology lab where DNA is extracted and analyzed using PCR‑based assays or next‑generation sequencing. Results are typically available within 7‑14 days, although some rapid “reflex” testing protocols can return results in as few as 3‑5 days.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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