EGFR
A test for detecting somatic mutations in the EGFR gene (deletions and insertions in exon 19, insertions in exon 20, L858R, T790M, L861Q, S768I and G719X mutations) in tumor samples of non-small-cell lung cancer patients by real-time PCR.
Category «Genetics»
EGFR
Epidermal growth factor receptor (EGFR) is a protein belonging to the tyrosine kinase receptor family. This receptor plays an important role in the regulation of cell growth, proliferation, differentiation and survival. In particular, EGFR is a key element in triggering the EGFR-RAS-RAF-MEK-MAPK signaling pathway.
In healthy cells, EGFR gene expression is tightly regulated, controlling cell growth and preventing uncontrolled proliferation and oncotransformation. However, in some cancers, including non-small-cell lung cancer (NSCLC), mutations in the EGFR gene occur, resulting in persistent activation of the receptor even in the absence of its ligand. This promotes uncontrolled cell growth and division, leading to malignant tumor formation and progression. Mutations in EGFR, such as exon 19 and 20 deletions and insertions, as well as point mutations (e.g., L858R, T790M), play a critical role in oncogenesis and determine the sensitivity of a tumor to targeted therapy.
T790M
The T790M mutation is the main cause of resistance to first- and second-generation tyrosine kinase inhibitors (TKIs) such as gefitinib and erlotinib. This mutation is associated with a more aggressive course of the disease and requires the use of third-generation TKIs such as osimertinib.
L858R
The L858R mutation is located in exon 21 of the EGFR gene and leads to activation of the tyrosine kinase domain of the receptor. This mutation makes tumor cells sensitive to TKIs, and its presence is a marker of positive response to gefitinib and erlotinib therapy.
Exon 19 insertions and deletions
Insertions and deletions in exon 19 of the EGFR gene are frequent mutations associated with receptor activation. These alterations also increase the sensitivity of tumor cells to TKIs, making them important therapeutic targets.
G719Х
Mutations at position G719 (e.g., G719A, G719S, and G719C) result in increased EGFR tyrosine kinase domain activity. These mutations are not so common and are associated with a good response to TKI treatment.
L861Q и S768I
L861Q and S768I mutations, located in exons 21 and 20, respectively, also lead to EGFR activation. The presence of these mutations may indicate a higher likelihood of a positive response to TKI treatment.
Exon 20 insertions
EGFR gene exon 20 insertions are rare mutations that can cause resistance to standard TKIs. Therefore, the patient may be prescribed second- and third-generation TKIs.
Indications for testing
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Therapy selection for patients with non-small-cell lung cancer -
Resistance to first- and second- generation tyrosine kinase inhibitors -
Recurrent non-small-cell lung tumors -
Assessment of TKI treatment prognosis
EGFR
EGFR 8 variant of the kit is intended for the detection of all mentioned mutations.
EGFR 4 variant of the kit is a contracted version that is intended for the detection of deletions and insertions in the 19th exon and L858R, T790M mutations.
Samples: formaldehyde-fixed paraffin-embeded (FFPE) non-small-cell lung cancer samples
READ MORE ABOUT EGFR 4READ MORE ABOUT EGFR 8
Information
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