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20 March 2020 : Clinical Research

Experimental Study of Somatic Variants of Osteosarcoma by Whole-Exome Sequencing

Jingyu Hou1ABCDEF, Guoqing Liu1BCDE, Peng Zhang1BCD, Bangmin Wang1CD, Qiang Yan1BC, Pin Wu2DE, Chuchu Wang2ACDE, Weitao Yao1ABCDEFG*

DOI: 10.12659/MSM.920826

Med Sci Monit 2020; 26:e920826


BACKGROUND: This study aimed to investigate the role of gene mutation site distribution, biological function, pathway enrichment, and gene association analysis in the occurrence, development, and migration of osteosarcoma.

MATERIAL AND METHODS: Somatic mutation screening was performed using the whole-exome sequencing of osteosarcoma samples, and the distribution of mutations was demonstrated by Circos diagrams. Metascape was used to analyze the GO and KEGG signal pathway enrichment of the genes harboring protein coding alterations, and GeneMANIA was used to analyze the interaction of mutated genes.

RESULTS: The results showed that the protein coding alterations were found throughout the whole genome in 3 osteosarcoma samples. A large number of identical or related biological processes and pathways were found in osteosarcoma samples. The GeneMANIA analysis of the 10 mutations shared by 3 samples showed that the target gene minichromosome maintenance complex component 4 (MCM4) and 3 lateral genes were most functional, and were all related to DNA replication. The analysis of GO and KEGG signal pathway enrichment showed that the mutated genes were involved mainly in tumor-related metabolic pathways. Three mutated genes were involved in the cell process, and 2 mutated genes were involved in the metabolic process. Known driver gene mutations were also observed in the samples.

CONCLUSIONS: The gene analysis confirmed that patients with osteosarcoma had a wide range of common gene mutations related to each other, which are involved in tumor-related metabolic pathways. These findings provide a basis for further gene-targeted therapy and pathway research.

Keywords: Biological Processes, Drive, High-Throughput Nucleotide Sequencing


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Dinah V. Parums
Science Editor, Medical Science Monitor, International Scientific Information, Inc., Melville, NY, USA

DOI: 10.12659/MSM.935123

Med Sci Monit 2021; 27:e935123


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Medical Science Monitor eISSN: 1643-3750
Medical Science Monitor eISSN: 1643-3750