Polymorphism in a tumor suppressor (TP53) gene (G215C) and risk of squamous cell carcinoma of the larynx

Abd Elrahman, Nehad Hassan; Elfarash, Ameer; Mohammed Badran, Ahmed Antar Saleh

doi:10.21608/ejnso.2022.264424

Polymorphism in a tumor suppressor (TP53) gene (G215C) and risk of squamous cell carcinoma of the larynx

Document Type : Original Article

Authors

¹ ENT department, Faculty of medicine, South Valley university, Qena, Egypt

² Genetic department, Faculty of agriculture, Assiut university

³ ENT department, Faculty of medicine, Assiut university

10.21608/ejnso.2022.264424

Abstract

Laryngeal cancers are equivalent to one-third of head and neck cancers and are considered an important source of morbidity and mortality. Early-stage disease is highly curable with either surgical or radiation monotherapy, whereas late-stage disease has a worse outcome. The p53 protein is situated in the cell nuclei and play role in cell cycle checkpoint regulation, apoptosis, DNA repair, and the regulated repairing process of the damaged DNA caused by chemicals, radiation, and ultraviolet rays. If this process is arrested due to any cause, the p 53 transmits a signal to trigger cell apoptosis and prevents the cell from replication and hence tumor development. About 14 SNPs have been identified in the wild-type TP53 gene, which could change the function of the p53 protein. One of the most common SNPs of the TP53 gene is TP53c215C>G(Pro72Arg) (rs1042522), located in the proline-rich domain of p53, which is important in normal p53 function. Studies show that the arginine (Arg) variant is able to induce apoptosis faster and more efficiently than proline (Pro), while the Pro variant is better for inducing cycle arrest. It has been reported that Arg72Pro SNP in the TP53 gene can increase the risk of cancers.

Keywords