Detection of CHEK2 Ile157Thr mutation in cancer patients by using allele specific PCR
Aims: The checkpoint kinase 2 (CHEK2) was identified as a gene in cell cycle control upon DNA damage. The mutation in this gene is associated with some kinds of cancer including breast and lung tumors. The aim of this study was to investigate, I157T missense mutation of CHEK2 gene by Allele specific PCR (ASP) technique in clinical samples of breast and non-small cell lung cancer (NSCLC) samples.
Method: In this study, we investigated I157T mutation of CHEK2 gene in whole blood DNA from 30 breast cancers (BCs), 20 NSCLC patients and 30 control samples. The primers of ASP were designed to detect non-mutant status at the position of 430 CHEK2. The data were analyzed statistically.
Results: The results of the amplification reaction in used samples were indicated the accuracy of designed primers. The results of this study showed that in 70% of NSCLC, 33.34% of BC samples and 63.3% of control samples, the CHEK2- encoding gene contained mutations. Sequencing also confirmed these results. Statistical analysis showed that there was a direct relationship between the change in the position of 157 CHEK2 genes and metastatic NSCLC samples.
Conclusion: In previous studies, mutations at the gene coding for CHEK2 in different cancers have been proven. In the present study, it was found that the designed ASP technique was able to correctly detect the wild-type status in the studied samples and probably could be used to cancer diagnostic analysis, although more samples should be considered.