The Epidermal Growth Factor Receptor (EGFR) is expressed on the cell surface and has a tyrosine kinase activity. The EGFR is involved in the cell cycle regulation through the MAPK/ERK and PI3K/AKT/mTOR pathways. Activating mutations trigger its kinase activity, which then leads to the uncontrolled cell proliferation.
This is used in the treatment with the so-called tyrosine kinase inhibitors (TKIs), which bind to the ATP binding site of the receptor and thus inhibit the activity of the EGFR.
Carriers of activation-type EGFR mutations respond positively to the tyrosine kinase inhibitor (TKI) treatment. On the contrary, carriers of the resistant type of EGFR mutations are resistant to TKIs. Thus, the identification of the type of mutation in the EGFR gene allows more precise and personalized approach to cancer treatment.
The anti-EGFR TKIs are mainly used in the treatment of lung cancer, especially of non-small cell lung cancer. However, the resistance to the TKIs develops very rapidly (median 9-13 months). Therefore, the detection of mutations is required before starting treatment with drugs from the TKI group.
Product parameters
- the kit contains 3 specific assays and a Master Mix for the detection of 7 EGFR gene mutation groups and for a total of 40 individual mutations
- input sample concentration 8-80 ng/µl
- validity of the analysis is verified using a negative control, MUT and WT standard and an internal positive control (IPC) included in each assay
- detection is performed in FAM, HEX, ROX and Cy5 fluorescence channels
- identical amplification profile with products from gb HEMO, gb GENETIC, gb PHARM lines
- list of mutations detected by the gb ONCO EGFR kit:
no. |
mutation |
sequence change |
cosmic ID |
exon |
1 |
G719A |
2156G>C |
6239 |
18 |
2 |
G719C |
2155G>T |
6253 |
3 |
G719D |
2156G>A |
18425 |
4 |
G719S |
2155G>A |
6252 |
5 |
E746_A750del (1) |
2235_2249del15 |
6223 |
19 |
6 |
E746_A750del (2) |
2236_2250del15 |
6225 |
7 |
E746_A750>QP |
2236_2248>CAAC |
13557 |
8 |
E746_T751del |
2236_2253del18 |
12728 |
9 |
E746_T751>A |
2237_2251del15 |
12678 |
10 |
E746_T751>T |
2236_2253> ACG |
– |
11 |
E746_S752>A |
2237_2254del18 |
12367 |
12 |
E746_T751>I |
2235_2252>AAT |
13551 |
13 |
E746_T751>V |
2237_2252>T |
12386 |
14 |
E746_T751>Q |
2236_2253>CAA |
22999 |
15 |
E746_S752>V |
2237_2255>T |
12384 |
16 |
E746_S752>D |
2238_2255del18 |
6220 |
17 |
E746_S752>EQ |
2238_2256>GCAA |
– |
18 |
E746_K754>EQHL |
2238_2261>GCAACATCT |
– |
19 |
L747_P753>S |
2240_2257del18 |
12370 |
20 |
L747_A750>P |
2238_2248>GC |
12422 |
21 |
L747_T751>Q |
2238_2252>GCA |
12419 |
22 |
L747_A750>P |
2239_2248TTAAGAGAAG>C |
12382 |
23 |
L747_A750>P |
2239_2250>CCC |
– |
24 |
L747_T751del (1) |
2239_2253del15 |
6254 |
25 |
L747_T751del (2) |
2240_2254del15 |
12369 |
26 |
L747_T751del (3) |
2238_2252del15 |
23571 |
27 |
L747_T751>S |
2240_2251del12 |
6210 |
28 |
L747_T751>P |
2239_2251>C |
12383 |
29 |
L747_S752del |
2239_2256del18 |
6255 |
30 |
L747_S752>Q |
2239_2256>CAA |
12403 |
31 |
L747_P753>Q |
2239_2258>CA |
12387 |
32 |
L747_K754>QL |
2239_2261>CAATT |
– |
33 |
D770_N771insG |
2310_2311insGGT |
12378 |
20 |
34 |
D770_N771insSVD |
2311_2312insGCGTGGACA |
13428 |
35 |
H773_V774insNPH |
2319_2320insAACCCCCAC |
12381 |
36 |
S768I |
2303G>T |
6241 |
37 |
T790M |
2369C>T |
6240 |
38 |
L858R |
2573T>G |
6224 |
21 |
39 |
L861Q |
2582T>A |
6213 |
40 |
L861R |
2582T>G |
12374 |