Role of genetic variations of DNA damage response pathway genes and heat-shock proteins in increased head and neck cancer risk

• Published in: Future oncology (London, England) England), 2022-10, Vol.18 (31), p.3519-3535
• Main Authors: Mahjabeen, Ishrat, Sheshe, Sadeeq, Shakoor, Tehmina, Hussain, Muhammad Zahid, Rizwan, Muhammad, Mehmood, Azher, Haris, Muhammad Shahbaz, Fazal, Falak, Burki, Ayesha, Kayani, Mahmood Akhtar
• Format: Article
• Language: English
• Subjects: DDR pathway; HNC
• ISSN: 1479-6694; 1744-8301
• DOI: 10.2217/fon-2022-0750

The present study was designed to evaluate the role of DNA damage response pathway genes and heat-shock proteins in head and neck cancer (HNC) risk. For this purpose, two study cohorts were used. Cohort 1 (blood samples of 250 HNC patients and 250 controls) was used for polymorphism screening of selected genes using tetra-primer amplification refractory mutation system-polymerase chain (Tetra-ARMS PCR). Cohort 2 (200 HNC tumors and adjacent controls) was used for expression analysis, using quantitative PCR. Analysis showed that mutant allele frequency of selected polymorphisms was found associated with increased HNC risk. Expression analysis showed the significant deregulation of selected genes in patients. The present study showed that selected genes ( and ) can act as good diagnostic/prognostic markers in HNC. The present study is designed to identify the selected genes of DNA damage response pathway and heat-shock proteins as diagnostic/prognostic markers of head and neck cancer (HNC). To do this, DNA was isolated from blood samples and RNA isolated from the tissue samples of HNC patients. The mutation and expression level of selected genes was tested, and selected genes showed good diagnostic/prognostic values for HNC patients.