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Virtual screening of mutations in antioxidant genes and its putative association with HNSCC: An in silico approach.
Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis ( IF 2.3 ) Pub Date : 2020-06-09 , DOI: 10.1016/j.mrfmmm.2020.111710
Vijayashree Priyadharsini J 1 , Paramasivam A 1
Affiliation  

Abnormalities in the antioxidant pathway are usually associated with inflammatory conditions, followed by tissue damage. Cancer is one such disease where there is a build-up of reactive oxygen species leading to pathological consequences. The present study aims to identify the alteration in genes and proteins associated with the common antioxidant pathways among patients with head and neck squamous cell carcinoma (HNSCC). The study design follows a retrospective approach and employs computational tools to analyse the possible role of genes involved in the anti-oxidation pathways in patients with HNSCC. The TCGA PanCancer Atlas dataset was used for the analysis. The Oncoprint data were analysed further to obtain information on the type of gene alterations encountered in the HNSCC cases. Gene amplification and deletions were commonly observed in genes of the thiol reductase pathway, whereas substitutions leading to missense, frameshifts were found in the other pathways assessed. Gene encoding ceruloplasmin was found to harbor nucleotide variations in about 10 % of the patients with OSCC. An exhaustive knowledge of the molecular genetic mechanisms underlying the pathways identified can open new avenues in selecting candidate genes which can be used as therapeutic targets against HNSCC. The present work identifies and nominates crucial genes from the antioxidant system for further in vitro experiments.



中文翻译:

虚拟筛选抗氧化剂基因中的突变及其与HNSCC的假定关联:计算机方法。

抗氧化剂途径的异常通常与炎性状况有关,随后是组织损伤。癌症就是其中一种活性氧的积累导致病理后果的疾病。本研究旨在确定与头颈部鳞状细胞癌(HNSCC)患者中常见的抗氧化剂途径相关的基因和蛋白质的变化。该研究设计遵循回顾性方法,并使用计算工具来分析参与HNSCC患者抗氧化途径的基因的可能作用。TCGA PanCancer Atlas数据集用于分析。对Oncoprint数据进行了进一步分析,以获取有关HNSCC病例中遇到的基因改变类型的信息。通常在硫醇还原酶途径的基因中观察到基因的扩增和缺失,而导致错义的替代,在其他评估途径中发现了移码。发现编码铜蓝蛋白的基因在约10%的OSCC患者中具有核苷酸变异。对所鉴定途径的分子遗传机制的详尽了解可以为选择可用作HNSCC治疗靶标的候选基因开辟新途径。本工作从抗氧化剂系统中鉴定并提名了关键基因,用于进一步的体外实验。发现编码铜蓝蛋白的基因在约10%的OSCC患者中具有核苷酸变异。对所鉴定途径的分子遗传机制的详尽了解可以为选择可用作HNSCC治疗靶点的候选基因开辟新途径。本工作从抗氧化剂系统中鉴定并提名了关键基因,用于进一步的体外实验。发现编码铜蓝蛋白的基因在约10%的OSCC患者中具有核苷酸变异。对所鉴定途径的分子遗传机制的详尽了解可以为选择可用作HNSCC治疗靶点的候选基因开辟新途径。本工作从抗氧化剂系统中鉴定并提名了关键基因,用于进一步的体外实验。

更新日期:2020-06-25
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