Deciphering the Genetic Aberrations in DNA Damage Response Genes and Their Possible Association with HNSCC
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Date
2020-08
Journal Title
Journal ISSN
Volume Title
Publisher
SCIENCEDOMAIN international
Abstract
Head and neck squamous cell carcinoma (HNSCC) includes carcinomas in the oral cavity, pharynx and larynx. It is considered as the sixth most common form of cancer in the world. Severalstudies have confirmed that smoking and alcohol consumption are the major risk factors for HNSCC. DNA damage response genes play an important role in the maintenance of the genome. Defects in cell cycle checkpoint and DNA repair mechanisms, such asmutation or abnormalities, may lead to the wide spectrum of human diseases. The present study employs databases and computational tools to identify the genetic abnormalities associated with DNA damage related genes which might have a direct or indirect association with HNSCC. The demographic details of HNSCC patients was obtained from The Cancer Gene Atlas (TCGA, Firehose Legacy) dataset hosted by the cBioportal database. The oncoprint data analysis revealed the highest frequency of gene alteration in the ATR gene (15%), followed by ATM, BRCA2and CHEK2(5%). Other genes showed less than 5% alteration. The gene expression profile of ATRgene revealed its differential expression pattern in different grades of tumor relative to normal samples. The survival curve analysis using Kaplan-Meier method revealed that a high level expression of the ATR gene leads to poor survival rate in the female HNSCC patients when compared to males. Thus the present study has identified gross and single nucleotide variants in the ATRgene which could have a putative role in the development of tumor. Further experimental research is required to confirm this association
Description
Keywords
Carcinoma, DNA damage response genes, mutations, cell cycle checkpoints, HNSCC
Citation
Akshayaa L., Girija A. S. Smiline, Paramasivam A., Priyadharsini J. Vijayashree. Deciphering the Genetic Aberrations in DNA Damage Response Genes and Their Possible Association with HNSCC. Journal of Pharmaceutical Research International. 2020 Aug; 32(15): 156-169