Polymorphism in EGFR Gene and its Association in Head and Neck Cancer Patients with Tobacco and Alcohol Consuming Habits | Chapter 20 | New Frontiers in Medicine and Medical Research Vol. 9

The epidermal growth factor receptor (EGFR) single nucleotide polymorphism (SNP) is important for disease progression and targeted therapy in head and neck cancer (HNC). As a result, the goal of this study is to find mutations in the EGFR gene (exon 20) in HNC who have been exposed to smoke and alcohol. On the study group of 129 HNC cases and 150 healthy volunteers, mutational analysis was performed using polymerase chain reaction (PCR) and single stranded confirmatory polymorphism (SSCP) techniques. There were four distinct SNPs identified (R776H, G779G, Q787Q, and L798H), with a mutation rate of 75.19 percent in HNC patients and 46 percent in controls. Q787Q was found to be more frequent (p,0.05), with genotypes GG, GA, and AA accounting for 24.80 percent, 61.24 percent, and 13.95 percent of the population, respectively. The researchers discovered that EGFR is a polymorphic gene linked to HNC illness, and that same SNPs were also identified in healthy people who smoked and drank. The importance of relative risk to HNC disease was demonstrated by the SNPs found in healthy individuals. These mutations were known to enhance the growth factor signalling cascade and make people more vulnerable to inhibitors.

Author (S) Details

K. Nagalakshmi
Department of Genetics, Bhagwan Mahavir Medical Research Centre, 10-1-1, Mahavir Marg, AC Guards, Hyderabad 500004, Andhra Pradesh, India.

Kaiser Jamil
Department of Genetics, Bhagwan Mahavir Medical Research Centre, 10-1-1, Mahavir Marg, AC Guards, Hyderabad 500004, Andhra Pradesh, India.

P. Usha Rani
Department of Clinical Pharmacology and Therapeutics, Nizam’s Institute of Medical Sciences, Panjagutta, Hyderabad 500082, Andhra Pradesh, India.

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