Polymorphism in EGFR Gene and its Association in Head and Neck Cancer Patients with Tobacco and Alcohol Consuming Habits

Abstract

Single nucleotide polymorphism (SNP) in the epidermal growth factor receptor (EGFR) plays a crucial role in head and neck cancer (HNC) disease progression and targeted therapies. Hence the present study aims to identify the mutations in EGFR gene (exon 20) in HNC considering their exposure to tobacco and alcohol habits. Mutational analysis was carried out by polymerase chain reaction (PCR) followed by single stranded confirmatory polymorphism (SSCP) techniques on the study group comprising of 129 HNC cases and 150 healthy volunteers. Four different SNP’s (R776H, G779G, Q787Q, and L798H) were observed with the overall mutation rate of 75.19% in HNC cases and 46% in controls. Q787Q was found to be more prevalent (p,0.05) and its genotypes GG, GA, and AA were 24.80%, 61.24%, and 13.95%. The study concluded that EGFR was found to be a polymorphic gene associated with HNC disease, and these SNPs were also prevalent in healthy volunteers with tobacco and alcohol habits. The observed SNPs in healthy volunteers indicated the importance of relative risk to HNC disease. These mutations were known to increase growth factor signaling cascade and confer susceptibility to the inhibitors.