Also Known As
Epidermal Growth Factor Receptor Mutation Analysis
HER-1
erbB-1
Formal Name
Epidermal Growth Factor Receptor
This article was last reviewed on
This article waslast modified on
April 24, 2018.

Were you looking instead for Estimated Glomerular Filtration Rate, also known as eGFR? If so, see the article on eGFR.

At a Glance
Why Get Tested?

To detect an EGFR gene mutation in tumor tissue to help guide treatment of non-small cell lung cancer

When To Get Tested?

When you have been diagnosed with non-small cell lung cancer and your health practitioner is considering treatment with tyrosine kinase inhibitors such as gefitinib and erlotinib

Sample Required?

A sample of cancer tissue obtained during a biopsy

Test Preparation Needed?

None

You may be able to find your test results on your laboratory's website or patient portal. However, you are currently at Lab Tests Online. You may have been directed here by your lab's website in order to provide you with background information about the test(s) you had performed. You will need to return to your lab's website or portal, or contact your healthcare practitioner in order to obtain your test results.

Lab Tests Online is an award-winning patient education website offering information on laboratory tests. The content on the site, which has been reviewed by laboratory scientists and other medical professionals, provides general explanations of what results might mean for each test listed on the site, such as what a high or low value might suggest to your healthcare practitioner about your health or medical condition.

The reference ranges for your tests can be found on your laboratory report. They are typically found to the right of your results.

If you do not have your lab report, consult your healthcare provider or the laboratory that performed the test(s) to obtain the reference range.

Laboratory test results are not meaningful by themselves. Their meaning comes from comparison to reference ranges. Reference ranges are the values expected for a healthy person. They are sometimes called "normal" values. By comparing your test results with reference values, you and your healthcare provider can see if any of your test results fall outside the range of expected values. Values that are outside expected ranges can provide clues to help identify possible conditions or diseases.

While accuracy of laboratory testing has significantly evolved over the past few decades, some lab-to-lab variability can occur due to differences in testing equipment, chemical reagents, and techniques. This is a reason why so few reference ranges are provided on this site. It is important to know that you must use the range supplied by the laboratory that performed your test to evaluate whether your results are "within normal limits."

For more information, please read the article Reference Ranges and What They Mean.

What is being tested?

EGFR is a short name for the epidermal growth factor receptor gene. This test detects mutations in the EGFR gene in cancer tissue. This information is useful in guiding treatment of non-small cell lung cancer.

The EGFR gene codes for a specialized protein called a receptor located on the surface of cells. Receptors recognize and bind to other substances, and the binding typically has a specific effect on the cells.

EGFR is one of a group of receptors called receptor tyrosine kinases that help regulate cell growth, division, survival, and death. This regulation is a very complex process involving the activation of a series of signals along various pathways. Receptor tyrosine kinases like EGFR transmit signals from the surface of the cell to within the cell.

In normal cells, the binding of epidermal growth factor to its receptor on the cell surface is an important signal that promotes cell proliferation. Certain mutations called "activating mutations" in the EGFR gene can result in excessive signaling for growth and uncontrolled proliferation of cancer cells.

Treatment that targets EGFR is a valuable molecular approach in cancer therapy. Examples of EGFR-targeted therapy include drugs such as gefitonib and erlotinib, which are small molecules called tyrosine kinase inhibitors (TKIs) that enter cancer cells and impede signaling.

These drugs have been shown to be useful in treating non-small cell lung cancer (NSCLC). Studies have shown that targeted therapy with these TKIs will only work in a subset of NSCLC with specific activating mutations in the EGFR gene. If an activating mutation is present, as detected with an EGFR mutation test, then the drugs directed against EGFR are much more likely to be effective and the patient should benefit from targeted therapy.

How is the sample collected for testing?

A sample of cancer tissue is obtained by performing a biopsy.

Is any test preparation needed to ensure the quality of the sample?

No test preparation is needed.

Accordion Title
Common Questions
  • How is it used?

    EGFR mutation testing is used primarily to help guide treatment and determine whether someone with non-small cell lung cancer (NSCLC) may benefit from targeted therapy such as with the tyrosine kinase inhibitors (TKIs) gefitinib and erlotinib. This testing detects the presence of specific activating mutations in the EGFR gene in the DNA of cells in tumor tissue.

    EGFR-activating mutations can lead to uncontrolled growth of cancer cells. TKIs block the action of EGFR, which inhibits cell growth. If a person's lung cancer has an EGFR mutation, then a TKI may be effective in treating his or her cancer.

    An EGFR mutation test may be ordered by itself or as part of a series of tests that also includes KRAS and/or ALK mutation testing. Each of these tests may be used to help determine whether a person's lung cancer will respond to targeted therapy and which type will likely be of most benefit.

  • When is it ordered?

    EGFR mutation testing is ordered when an individual has been diagnosed with non-small cell lung cancer, especially adenocarcinoma, and the person is a candidate for treatment with an EGFR inhibitor.

    Currently, if EGFR mutation testing is performed as part of a series of tests, KRAS mutation testing is usually done first. If the tumor is negative for KRAS, then EGFR mutation testing may be done, and if that is negative, then a test for ALK mutation may be performed.

  • What does the test result mean?

    If KRAS mutation testing is performed and indicates that the tumor lacks a KRAS mutation, then the affected person is likely to respond to an anti-EGFR drug therapy (tyrosine kinase inhibitor, TKI). If the tumor has a KRAS mutation, then it is unlikely to harbor an EGFR mutation or respond to anti-EGFR drug therapy. (In non-small cell lung cancer, EGFR and KRAS mutations are mutually exclusive—the tumor can have one or the other but not both.)

    If EGFR mutation testing indicates that an EGFR-activating mutation is present in cancer tissue, then the affected individual is likely to respond to therapy that targets EGFR. If the tumor is negative for an EGFR mutation, then the person is not likely to respond to a tyrosine kinase inhibitor. ALK mutation testing may then used to determine whether the person's tumor would be likely to respond to an ALK kinase inhibitor.

    A person could have a negative test result if the tumor tissue sample is insufficient and/or when there are insufficient cancer cells present that contain the mutation. Additionally, there may be EGFR mutations present that are not detected by this testing.

  • Is there anything else I should know?

    If a patient has already been exposed to a tyrosine kinase inhibitor and is showing signs of resistance to the medication, the health practitioner may order tests that look for specific EGFR resistance mutations.

    In addition to non-small cell lung cancer, there is an increased amount of EGFR present in other types of cancer. Some examples include colon cancer, glioblastoma (a type of brain cancer), and cancers of the head and neck, breast, and pancreas. This can be due to amplification and over-expression of the receptor that leads to excessive signaling for growth. Tumors that have increased EGFR protein tend to grow more aggressively, are more likely to metastasize, and are more resistant to standard chemotherapies.

    EGFR blocking agents are also routinely used for treatment of metastatic colon cancer and are used with some head and neck cancers.

    The utility of EGFR inhibitors and their correlation with EGFR mutations in different types of cancers has yet to be fully established. The role of testing for certain EGFR gene mutations and the mutations' affect on a person's responsiveness to treatment continues to be explored.

    EGFR mutation testing is not available in every laboratory. If a health practitioner sends a sample to a reference laboratory, the results may take a few weeks before they are available.

  • Can I have my blood tested for EGFR mutations?

    No. It is not the genetics of the person being evaluated but the genes of the tumor, so a sample of the tumor obtained with a biopsy is used for testing.

  • What is the difference between EGFR, also known as Her-1, and Her-2/neu?

    EGFR and Her-2/neu are both members of the same family of cell membrane receptors. When either EGFR or Her-2/neu is significantly increased in a cancer, it indicates a more aggressive tumor and a poorer patient prognosis. The primary differences between EGFR and Her-2/neu are that they are ordered to help evaluate different types of cancer and that the drugs that have been developed to target them are specific for that particular receptor, EGFR or Her-2/neu. Her-2/neu is used for evaluating breast cancer.

  • Are there other types of testing performed to evaluate EGFR in tumors?

    There is a test available that looks at the genetic level for gene amplification; it evaluates the number of copies of the gene present. Sometimes tests for EGFR gene amplification are used to determine the likely course (prognosis) of cancer of the head and neck. Tumors with amplified EGFR tend to grow more aggressively, are more likely to metastasize, and are more resistant to standard chemotherapies. People with these tumors tend to have a poorer outcome.

View Sources

Sources Used in Most Recent Review

Timothy S. Uphoff, PhD, D(ABMG), MLS(ASCP)CM. Section Head Molecular Pathology Laboratory, Marshfield Clinic, Marshfield WI.

Cheng, L. et. al. (2011 May 31). The Landscape of EGFR Pathways and Personalized Management of Non-small-cell Lung Cancer. Medscape Today News from Future Oncology. 2011;7(4):519-541 [On-line information]. Available online at http://www.medscape.com/viewarticle/740715_2 through http://www.medscape.com. Accessed.December 2013

Grenache, D. et. al. (Updated 2013 November). Lung Cancer. ARUP Consult [On-line information]. Available online at http://www.arupconsult.com/Topics/LungCancer.html?client_ID=LTD#tabs=0 through http://www.arupconsult.com. Accessed December 2013.

(© 1995-2013). Test ID: FEGFR91903 EGFR Mutation Analysis in NSCLC. Mayo Clinic Mayo Medical Laboratories [On-line information]. Available online at http://www.mayomedicallaboratories.com/test-catalog/Clinical+and+Interpretive/61247 through http://www.mayomedicallaboratories.com. Accessed December 2013.

Chen, Y. (Updated 2011 August 24). Lung cancer - non-small cell. MedlinePlus Medical Encyclopedia [On-line information]. Available online at http://www.nlm.nih.gov/medlineplus/ency/article/007194.htm through http://www.nlm.nih.gov. Accessed December 2013.

Tietz Textbook of Clinical Chemistry and Molecular Diagnostics. Burtis CA, Ashwood ER, Bruns DE, eds. St. Louis: Elsevier Saunders; 2006, Pp 779-780.

(Updated May 22, 2013) American Cancer Society. Targeted Therapy. Available online at http://www.cancer.org/cancer/lungcancer-non-smallcell/detailedguide/non-small-cell-lung-cancer-treating-targeted-therapies through http://www.cancer.org. Accessed December 2013.

Raparia K, et al. Molecular Profiling in Non–Small Cell Lung Cancer: A Step Toward Personalized Medicine. Archives of Pathology & Laboratory Medicine 2013 137:4, 481-491. Available online at http://www.archivesofpathology.org/doi/full/10.5858/arpa.2012-0287-RA through http://www.archivesofpathology.org. Accessed December 2013.

(July 15, 2013) Markman M. Genetics of Non-Small Cell Lung Cancer. Medscape Reference article. Available online at http://emedicine.medscape.com/article/1689988-overview through http://emedicine.medscape.com. Accessed December 2013.

(Oct 21, 2013) Tan W. Non-small Cell Lung Cancer. Medscape Reference article. Available online at http://emedicine.medscape.com/article/279960-overview through http://emedicine.medscape.com. Accessed December 2013.

Lindeman N, et al. Molecular testing guideline for selection of lung cancer patients for EGFR and ALK tyrosine kinase inhibitors: guideline from the College of American Pathologists, International Association for the Study of Lung Cancer, and Association for Molecular Pathology. J Thorac Oncol. 2013 Jul;8(7):823-59.

Sources Used in Previous Reviews

Thomas, Clayton L., Editor (1997). Taber's Cyclopedic Medical Dictionary. F.A. Davis Company, Philadelphia, PA [18th Edition].

Pagana, Kathleen D. & Pagana, Timothy J. (2001). Mosby's Diagnostic and Laboratory Test Reference 5th Edition: Mosby, Inc., Saint Louis, MO.

(2004 April). EGFR by FISH. ARUP Technical Bulletin [On-line information]. PDF available for dowload at http://www.arup-lab.com/media/pdf/testing/tech_bulletins/egfr_apr04.pdf through http://www.arup-lab.com.

(© 2004). EGFR by FISH. ARUP's Guide to Clinical Laboratory Testing [On-line information]. Available online at http://www.aruplab.com/guides/clt/tests/clt_a213.jsp#3635067 through http://www.aruplab.com.

Check, W. (2004 January). New school of FISH: solid tumor testing. CAP Cover Story [On-line journal article]. Available online at http://www.cap.org/apps/docs/cap_today/cover_stories/0104NewSchoolOfFISH.html through http://www.cap.org.

(2004). Epidermal Growth Factor Receptor Assay, Iressa (Gefitinib) responsiveness in lung cancer, EGFR Gene Analysis. Clinical Molecular Diagnostic Laboratory [On-line information]. Available Online at http://www.cityofhope.org/cmdl/EGFR.asp through http://www.cityofhope.org.

(© 2003). Epidermal Growth Factor Receptor (EGFR), Breast Cancer. LabCorp [On-line test information]. Available Online at http://www.labcorp.com/datasets/labcorp/html/chapter/ through http://www.labcorp.com.

(2004 April 29). Discovery Promises Better Use of Iressa for Lung Cancer. American Cancer Society, ACS News Center [On-line article]. Available online at http://www.cancer.org/docroot/NWS/content/NWS_1_1x_Discovery_Promises_Better_Use_of_Iressa_for_Lung_Cancer.asp through http://www.cancer.org.

Ang, K. et. al. (2002 December 15). Impact of Epidermal Growth Factor Receptor Expression on Survival and Pattern of Relapse in Patients with Advanced Head and Neck Carcinoma. Cancer Research 62, 7350-7356 [On-line journal]. Available Online at http://cancerres.aacrjournals.org/cgi/content/full/62/24/7350 through http://cancerres.aacrjournals.org.

(2004 April 29). Presence of Gene Mutation Tightly Linked to Drug Effectiveness in Lung Cancer. National Cancer Institute [On-line news]. Available Online at http://www.cancer.gov/newscenter/pressreleases/IressaMutation through http://www.cancer.gov.

Billingsley, J. (2003 December 6). New Clue to Breast Cancer Mortality, Growth factor identified with poorer outcomes in patients. Henry Ford Health System [On-line news]. Available Online at http://www.henryfordhealth.org/110736.cfm through http://www.henryfordhealth.org.

Langreth, R. (2004 April 29). Gene Predicts Cancer Drug Effectiveness. Forbes.com Pharmaceuticals [On-line article]. Available Online at http://www.forbes.com/2004/04/29/cx_rl_0429cancer_print.html through http://www.forbes.com.

(2003). Epidermal Growth Factor Receptor Status in Breast Cancer Metastases to the Central Nervous System - Comparison With HER-2/neu Status. CAP [On-line Abstracts From the College of American Pathologists 2003 Annual Meeting (CAP '03)]. Available Online at http://www.cap.org/apps/docs/archives_pathology_lab_med/this_month.html through http://www.cap.org.

Weaver, C. and Maxon, J. (1998- 2004). Targeting Epidermal Growth Factor Receptor Pathways. CancerConsultants.com Current Topics in Oncology [On-line information]. Available online at http://www.411cancer.com/syndication/veContent.jsp?ArticleID=egfr_02&ArticleTypeID=CTON through http://www.411cancer.com.

Kuriyan, J. (2006 June 16). Researchers Learn How Epidermal Growth Factor Receptor Is Activated. Howard Hughes Medical Institute [On-line information]. Available online at http://www.hhmi.org/news/kuriyan20060615.html through http://www.hhmi.org. Accessed on 7-30-08.

American Cancer Society [On-line information]. (2007 May 14, Revised). Detailed Guide: Laryngeal and Hypopharyngeal Cancer. What's New in Laryngeal and Hypopharyngeal Cancer Research and Treatment? Available online through http://www.cancer.org. Accessed on 7-30-08.

Chu, E. et. al. (2007 July 25). Expanding Scientific Evidence for Epidermal Growth Factor Receptor-Directed Therapy in Colorectal Cancer and Squamous Cell Carcinoma of the Head and Neck CME. Medscape Today [On-line information]. Available online at http://www.medscape.com/viewprogram/7463 through http://www.medscape.com. Accessed on 7-30-08.

Dacic, S. et. al. (2006 June 6). Significance of EGFR Protein Expression and Gene Amplification in Non-Small Cell Lung Carcinoma. Medscape from Am J Clin Pathol. 2006;125(6):860-865 [On-line information]. Available online at http://www.medscape.com/viewarticle/532262 through http://www.medscape.com. Accessed on 7-30-08.

Grody, W. (2007 January 30). ASCP 2006: Applications of Molecular Methods in Surgical Pathology CME/CMLE. Medscape [On-line information]. Available online at http://www.medscape.com/viewarticle/551100 through http://www.medscape.com. Accessed on 7-30-08.

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