EGFR Mutation Testing
- Also Known As:
- Epidermal Growth Factor Receptor Mutation Analysis
- HER-1
- erbB-1
- Formal Name:
- Epidermal Growth Factor Receptor

This page was fact checked by our expert Medical Review Board for accuracy and objectivity. Read more about our editorial policy and review process.
At a Glance
Why Get Tested?
To detect EGFR gene mutations in non-small cell lung cancer tumor cells; knowing whether a mutation is present in the cells can help determine if EGFR-targeted tyrosine kinase inhibitors such as gefitinib and erlotinib may be beneficial for treating the tumor.
When To Get Tested?
When you have been diagnosed with non-small cell lung cancer; when you are being treated with an EGFR-targeted tyrosine kinase inhibitor, but the cancer progresses
Sample Required?
A sample of cancer cells from a biopsy or surgical removal of cancerous tissue; a blood sample drawn from a vein (liquid biopsy) may be used in some situations.
Test Preparation Needed?
In many cases preparation is minimal, but it will depend upon how the cancer cells are being obtained. You will receive instructions from your health care practitioner based on the procedure being used to obtain the sample.
What is being tested?
EGFR is a short name for the Epidermal Growth Factor Receptor gene. DNA from tumor cells is tested for mutations in this gene. In certain situations, DNA that has been shed from tumor cells in one’s blood can also be tested and may be informative (liquid biopsy).
The EGFR gene provides instructions for a cell to make a specialized type of protein called a receptor, which is located on the surface of the cell. A receptor recognizes and binds 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. Receptor tyrosine kinases like EGFR transmit signals from the surface of the cell to pathways within the cell.
In normal cells, binding of epidermal growth factor to its receptor on the cell surface is an important signal that can promote cell growth and proliferation. Certain mutations called “activating mutations” in the EGFR gene can result in excessive signaling for growth and uncontrolled proliferation of cancer cells.
Treatments that target EGFR are an effective therapy for certain cancers. Examples of EGFR-targeted therapy include drugs such as gefitinib and erlotinib, which are small molecules called tyrosine kinase inhibitors (TKIs) that enter cancer cells and impede signaling through the EGFR pathway. These drugs have been shown to be useful in treating non-small cell lung cancer (NSCLC), if the tumor has a mutation making it sensitive to the drug. If one of these sensitizing mutations is detected with an EGFR mutation test, then EGFR-targeted tyrosine kinase inhibitors are much more likely to be of benefit for treating the tumor.
Common Questions
View Sources
Sources Used in Most Recent Review
2018 review performed by Gregary T. Bocsi, DO.
Lindeman NI, Cagle PT, Beasley MB, Chitale DA, Dacic S, Giaccone G, Jenkins RB, Kwiatkowski DJ, Saldivar JS, Squire J, Thunnissen E, Ladanyi M. 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. Arch Pathol Lab Med. 2013 Jun;137(6):828-60. Available online at http://www.archivesofpathology.org/doi/pdf/10.5858/arpa.2012-0720-OA.
Lindeman NI, Cagle PT, Aisner DL, Arcila ME, Beasley MB, Bernicker E, Colasacco C, Dacic S, Hirsch FR, Kerr K, Kwiatkowski DJ, Ladanyi M, Nowak JA, Sholl L, Temple-Smolkin R, Solomon B, Souter LH, Thunnissen E, Tsao MS, Ventura CB, Wynes MW, Yatabe Y. Updated Molecular Testing Guideline for the Selection of Lung Cancer Patients for Treatment With Targeted Tyrosine Kinase Inhibitors: Guideline From the College of American Pathologists, the International Association for the Study of Lung Cancer, and the Association for Molecular Pathology. Arch Pathol Lab Med. 2018 Jan 22. Available online at http://www.archivesofpathology.org/doi/pdf/10.5858/arpa.2017-0388-CP.
Mishra R, Hanker AB, Garrett JT. Genomic alterations of ERBB receptors in cancer: clinical implications. Oncotarget. 2017 Nov 30;8(69):114371-114392.
(August 27, 2007) NCCN Guidelines Version 2.2018 Panel Members. Non-Small Cell Lung Cancer. NCCN Clinical Practice Guidelines in Oncology. Available online at https://www.nccn.org/professionals/physician_gls/default.aspx. Accessed on 1/31/2018
(© 2018). EGFR T790M Mutation in Circulating Tumor DNA by Digital Droplet PCR. ARUP Laboratories. Available online at https://www.aruplab.com/T790M. Accessed June 2019.
Bronner, M. Revolutionizing Treatment for Cancer Care: New Circulating Cell-Free Tumor DNA (ctDNA)Technology. ARUP Laboratories. Available online at https://www.aruplab.com/files/resources/news/ExpertEdge_Bronner.pdf. Accessed June 2019.
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.
(© 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.
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.
(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.
(© 2003). Epidermal Growth Factor Receptor (EGFR), Breast Cancer. LabCorp [On-line test information]. Available Online at http://www.labcorp.com/datasets/labcorp/html/chapter/.
(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.
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.
(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.
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.
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.
(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.
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.
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. 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. 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. 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. Accessed on 7-30-08.
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. 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. 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. 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. 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. 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. 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. 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. 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.
Ask a Laboratory Scientist
