Detection of EGFR gene polymorphisms in non-small cell lung cancer Egyptian patients: a case-control study

Abstract

Background: Non-Small Cell Lung Cancer displays several genetic mutations including epidermal growth factor receptor. This study's objective was to determine if the EGFR exon19 rs121913438 and exon21 rs121434568 variations play a role in NSCLC susceptibility.

Methods: Case-control research was done at the Mansoura university oncology center including 124 NSCLC patients, and 124 healthy volunteers. blood was used to obtain genomic DNA. ARMS-PCR was used to genotype single-nucleotide polymorphisms.

Results: Molecular study for EGFR exon 19 del. showed NSCLC cases were significantly associated with a higher proportion of heterozygous WD, WD + DD dominant genotypes, and mutant D allele, (p < 0.05 for each), with a risk to develop NSCLC. also, NSCLC cases were significantly associated with a higher proportion of heterozygous TG, TG + GG dominant genotype, G mutant allele, (p < 0.05 for each), with a risk to develop LC (OR > 1 for each). regarding the two EGFR mutations, TTF1 staining was significantly associated with WD + DD genotypes for EGFR exon 19 del But not EGFR exon 21. No substantial differences were found among all studied cases with CK7 or napsin A Tumor cytochemistry.

Conclusions: The WD heterozygous genotype and D allele in exon 19 del. mutation as well as the TG heterozygous and G allele in exon 21 substitution mutation in EGFR gene are strongly associated with the development of advanced-NSCLC in the Egyptians.

Keywords: EGFR gene; Genetic mutation; Lung carcinoma.

Fig. 1

Tetra-ARMS PCR electrophoretic pattern of the EGFR (rs121913438) product, where each lane represents one participant. M stands for DNA marker (100 bp). The internal control is shown by the 444 bp band. Based on the primer, specific 325 bp bands represent the mutant (D) allele, and specific 134 bp bands represent the wild (W) allele. WD heterozygous is represented by lanes 1, 2, 3, and 5. Lane 4 indicates mutant homozygous, where the W allele is absent from the lane and the D allele is present at 325 bp. Lane 6 represents wild-type homozygosity, with the W allele appearing at 134 bp and the D allele absent

Fig. 2

Individual ARMS PCR electrophoretic pattern of the EGFR gene (rs121434568) product, with each lane representing a different participant. M stands for DNA marker (100 bp). Depending on the primer, specific 199 bp bands represent the T allele, and specific 196 bp bands represent the G allele. The TG heterozygous genotyping is represented by lanes 3, 4, 7, and 8. where lanes 3 and 7 represent the T allele band and lanes 4 and 8 represent the G allele. Lanes 1, 2, 5, and 6 indicate TT homozygosity; whereas the G allele is absent from lanes 2 and 6, the T allele is present on lanes 1 and 5. Lanes 9 and 10 are GG homozygous, with the G allele appearing at 196 bp on lane 10 and the T allele absent from lane 9