EGFR Mutations
Information
Information
EGFR Mutations
Overview
EGFR (Epidermal Growth Factor Receptor) mutations refer to alterations in the gene that codes for the EGFR protein, which plays a crucial role in cell growth and division. These mutations are significant in cancer, particularly in non-small cell lung cancer (NSCLC), where they can lead to uncontrolled cell proliferation. Tracking EGFR mutations is essential for diagnosing and treating lung cancer, as certain mutations respond well to targeted therapies like EGFR inhibitors[1][3].
Scientific Background
EGFR is a protein located on the cell surface, involved in signaling pathways that regulate cell growth and division. Mutations in the EGFR gene can lead to continuous activation of these pathways, resulting in cancer. The most common EGFR mutations in lung cancer include exon 19 deletions and the L858R point mutation in exon 21[1][5]. These mutations are often found in adenocarcinoma, a subtype of NSCLC[3].
Measurement and Testing
EGFR mutations are typically detected through genetic testing of tumor tissue obtained via biopsy. Blood tests can also be used to identify these mutations in some cases[3]. The testing involves analyzing exons 18 to 21 of the EGFR gene for mutations[2].
Reference Ranges
…
EGFR Mutations
Overview
EGFR (Epidermal Growth Factor Receptor) mutations refer to alterations in the gene that codes for the EGFR protein, which plays a crucial role in cell growth and division. These mutations are significant in cancer, particularly in non-small cell lung cancer (NSCLC), where they can lead to uncontrolled cell proliferation. Tracking EGFR mutations is essential for diagnosing and treating lung cancer, as certain mutations respond well to targeted therapies like EGFR inhibitors[1][3].
Scientific Background
EGFR is a protein located on the cell surface, involved in signaling pathways that regulate cell growth and division. Mutations in the EGFR gene can lead to continuous activation of these pathways, resulting in cancer. The most common EGFR mutations in lung cancer include exon 19 deletions and the L858R point mutation in exon 21[1][5]. These mutations are often found in adenocarcinoma, a subtype of NSCLC[3].
Measurement and Testing
EGFR mutations are typically detected through genetic testing of tumor tissue obtained via biopsy. Blood tests can also be used to identify these mutations in some cases[3]. The testing involves analyzing exons 18 to 21 of the EGFR gene for mutations[2].
Reference Ranges
There are no standard reference ranges for EGFR mutations, as their presence or absence is what matters. However, the prevalence of EGFR mutations varies by population, with higher rates observed in non-smokers, women, and individuals of Asian descent[1][3].
High Values
Elevated levels of EGFR mutations are associated with cancer, particularly NSCLC. These mutations can lead to increased cell proliferation and tumor growth. Symptoms may include persistent cough, chest pain, and shortness of breath[1][5].
Low Values
Low or absent EGFR mutations do not typically indicate a health risk but rather suggest that other factors may be driving cancer growth if present. In such cases, different treatment strategies may be necessary[3].
Improving Biomarker Levels
Improving EGFR mutation status is not applicable, as the goal is to identify and treat the mutation rather than increase it. Treatment often involves targeted therapies like EGFR inhibitors for those with specific mutations[2][5]. Lifestyle modifications, such as avoiding smoking and reducing exposure to carcinogens, can help prevent lung cancer[3].
Importance of Tracking
Tracking EGFR mutations is crucial for personalized cancer treatment. Identifying these mutations helps determine the most effective therapy, improving patient outcomes and survival rates[1][5].
References
- Medical News Today. (n.d.). EGFR mutation lung cancer: Definition, outlook, treatment, and more. https://www.medicalnewstoday.com/articles/egfr-mutation-lung-cancer
- UW Medicine Pathology. (n.d.). EGFR Mutations | Laboratory Test Guide. https://dlmp.uw.edu/test-guide/view/EGFRHS
- WebMD. (2024). EGFR Mutations in NSCLC: What Does It Mean? https://www.webmd.com/lung-cancer/egfr-mutations-defined-nsclc
- Journal of Clinical Oncology. (2023). Germline EGFR Mutations and Familial Lung Cancer. https://ascopubs.org/doi/10.1200/JCO.23.01372
- Healthline. (2025). EGFR Mutation in Lung Cancer: Types, Treatment, Outlook. https://www.healthline.com/health/lung-cancer/egfr-mutation-lung-cancer
Disclaimer
The information provided in this document is for educational purposes only and does not constitute medical advice. It is essential to consult with a qualified healthcare professional for any health concerns or before making any decisions related to your health or treatment.
Resources
No resources available.