Abstract

Introduction: Head and neck squamous cell carcinoma (HNSCC) is an aggressive life-threatening disease associated with high mortality rates. Several genes related to stress response have been studied extensively to reveal their possible association with HNSCC. Members of the HSPA (heat shock protein family A) family are exclusively expressed under stress conditions suggesting that these are specialised to function in the stress response.
 Aim: The aim of the present study is to demonstrate the genetic alterations in the HSPA gene family and their putative association with HNSCC.
 Materials and Methods: The source of the patient's data was procured from the cBioportal database. The TCGA Firehose Legacy comprised 528 head and neck squamous cell carcinoma cases. Oncoprint data analysis can be used to derive a putative association between the disease phenotype and genotype, to identify the variations and to identify any novel variations which can be associated with the disease phenotype. The gnomAD data analysis was used to compare between the observed variants documented in the present study with that of reported variants deposited in the gnomAD repository.
 Results and Discussion: The HSPA1A&HSPA1B genes harboured high frequency of amplification and deep deletions. The expression of two genes HSPA8 and HSPA13 was found to be up-regulated in the primary tumor sample in comparison to normal tissues. In Kaplan Meier analysis, HSPA8 gene expression was compared with gender, here, high expression in females shows low survival rate. Similarly, HSPA13 gene expression was compared with race, here low expression in africanamerican population shows low survival rate.
 Conclusion: The present study provides preliminary data on the involvement of the HSPA family of genes with HNSCC, which has to be validated using experimental evidence in other populations.

Highlights

  • Head and neck squamous cell carcinoma (HNSCC) is an aggressive life-threatening disease associated with high mortality rates

  • Oncoprint data analysis is performed to analyse the genetic alterations and the variations seen in the gene family

  • Genetic alterations of the genes associated with the HSPA family are documented

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Summary

Introduction

Head and neck squamous cell carcinoma (HNSCC) is an aggressive life-threatening disease associated with high mortality rates It is the sixth most common form of cancer as reported world-wide [3]. HNSCC follows a similar genetic pattern for progression in its development from premalignant lesions such as leukoplakia, dysplasia, erythroplakia and lichen planus [5] These cancers are strongly associated with certain environmental and lifestyle risk factors like tobacco and alcohol consumption [6]. Several in silico studies have revealed novel variants which may act as putative drivers involved in transformation of normal cells to malignant ones [7] In this respect, the therapeutic potential of targeting HSPA and modulating HSPA expression is attracting much interest [8]

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