Investigating the Role of PIK3CA and AKT in Head and Neck Squamous Cell Carcinoma through Whole Exome Sequencing

Abstract

The diverse group of cancers that develop in the upper aero-digestive region is known as head and neck cancer (HNC). Squamous cell carcinomas make up more than 90% of HNCs. In Pakistan, it is the most common cancer in men and the second most common in women. The two risk factors for HNC that are most frequently recognized are tobacco use and the Human Papillomavirus (HPV). HPV causes for 85% while tobacco smoke accounts for 90% of HNC as it exposes multiple powerful carcinogens. PIK3CA and Akt over-expression is also a lead cause of HNC. Here we focus on role of PIK3CA-Akt Pathway in HNC. Mutations in P53 are also common, leading to HNC. We performed WES and further Bioinformatics analysis to find mutations in multiple genes of PIK3CA-Akt pathway. We further compared Tumor samples with Normal samples, this increased the credibility of research. We find novel mutations in Akt in P53 in exonic region. PIK3CA mutations were confined to the intronic region of gene. These novel mutations will help in Planning the gene therapy and targeted drug discovery for this disease. Keywords: Head and Neck cancer (HNC), Whole Exome Sequencing (WES)