EGFR Somatic Mutation Testing
~10-25% patients with Non-Small Cell Lung Cancer have tumors associated with EGFR mutations that
occur primarily within exons 18-21. Mutations within this kinase domain increase the kinase activity of EGFR that leads to hyperactivation of anti-apoptotic Ras signalling cascade, eventually resulting in
uncontrolled cell proliferation. Deletions in exon 19 and point mutation p.L858R in Exon 21 together
comprise ~90% of all mutations identified within this domain. Studies show that tumors positive with EGFR activation mutations in the kinase domain are more sensitive to tyrosine kinase inhibitors (TKIs) like
erlotinib and gefitinib. On the contrary, insertions in Exon 20 (with an exception to A763_Y764insFQEA) are associated with decreased sensitivity to TKIs.
Centogene offers multiple screening tests for targeted and general screening of mutations in EGFR gene.
A. Hot spot targeted mutation testing
Approximately 43% of EGFR mutations are a result of a single point mutation c.2573T>G/p.L858R in exon 21 within the tyrosine kinase domain of EGFR protein. For rapid and sensitive screening of this mutation, Centogene offers quantitative PCR based approach to selectively screen or monitor individual mutations down to 0,05% allele frequency.
B. Exons 18-21 testing
Testing of exons 18, 19, 20 and 21 of EGFR gene is offered through Next Generation sequencing that can detect mutations at allele frequency down to 5% or lower.
C. Panel Testing
For general screening of somatic mutations, EGFR gene mutations/exon(s) are also a part of broader multi-gene panels like Cancer Hotspots Panel (detects 123 described mutations in EGFR gene along with commonly described mutations in 49 other oncogenes) or Solid Tumor Panel (~99.8% of the coding region of EGFR gene is covered along with over 95% coverage of coding regions of 61 other tumor related genes) that are readily available on Centogene website.
D. Microarray testing
Detection of 16 most important somatic mutations (including c.2573T>G/p.L858R) in EGFR at >30% allele frequency is also supported by our CentoArrayOnco where one can combine detection of selective
actionable somatic mutations with copy number variations across 900 oncogenes and tumor related genes in
tumor samples. This array includes apart from EGFR, 58 mutations in 8 other oncogenes.
Please refer to preferred test(s) on our test catalogue or ask our customer relations team for more specific information. We are constantly developing new tests. If your preferred test is not listed on the webpage, please contact us directly. We will be happy to assist you find the best possible solution for your patient.