Logo Medical Science Monitor

Call: +1.631.470.9640
Mon - Fri 10:00 am - 02:00 pm EST

Contact Us

Logo Medical Science Monitor Logo Medical Science Monitor Logo Medical Science Monitor

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, Osteosarcoma, Bone Neoplasms, Mutation, Whole Exome Sequencing

Add Comment 0 Comments


01 February 2024 : Editorial  

Editorial: Global Health Concerns as Vaccine-Preventable Infections Including SARS-CoV-2 (JN.1), Influenza, Respiratory Syncytial Virus (RSV), and Measles Continue to Rise

Dinah V. Parums

DOI: 10.12659/MSM.943911

Med Sci Monit 2024; 30:e943911


In Press

28 Dec 2023 : Clinical Research  

Prognostic Assessment of Colorectal Cancer Patients after Laparoscopic Surgery: A Comprehensive Evaluation ...

Med Sci Monit In Press; DOI: 10.12659/MSM.942658  


05 Jan 2024 : Clinical Research  

Effectiveness of Glutamine Oral Care in Reducing Oral Mucositis and Improving Oral Health After Neurosurger...

Med Sci Monit In Press; DOI: 10.12659/MSM.942585  

02 Jan 2024 : Clinical Research  

Urinary Concentration of Renal Biomarkers in Healthy Term Neonates: Gender Differences in GST-pi Excretion

Med Sci Monit In Press; DOI: 10.12659/MSM.942819  

29 Dec 2023 : Clinical Research  

Performance of Subcutaneous Implantable Cardioverter Defibrillator (S-ICD) in Chinese Population with Prima...

Med Sci Monit In Press; DOI: 10.12659/MSM.942747  

Most Viewed Current Articles

16 May 2023 : Clinical Research  

Electrophysiological Testing for an Auditory Processing Disorder and Reading Performance in 54 School Stude...

DOI :10.12659/MSM.940387

Med Sci Monit 2023; 29:e940387


17 Jan 2024 : Review article  

Vaccination Guidelines for Pregnant Women: Addressing COVID-19 and the Omicron Variant

DOI :10.12659/MSM.942799

Med Sci Monit 2024; 30:e942799


14 Dec 2022 : Clinical Research  

Prevalence and Variability of Allergen-Specific Immunoglobulin E in Patients with Elevated Tryptase Levels

DOI :10.12659/MSM.937990

Med Sci Monit 2022; 28:e937990


01 Jan 2022 : Editorial  

Editorial: Current Status of Oral Antiviral Drug Treatments for SARS-CoV-2 Infection in Non-Hospitalized Pa...

DOI :10.12659/MSM.935952

Med Sci Monit 2022; 28:e935952


Your Privacy

We use cookies to ensure the functionality of our website, to personalize content and advertising, to provide social media features, and to analyze our traffic. If you allow us to do so, we also inform our social media, advertising and analysis partners about your use of our website, You can decise for yourself which categories you you want to deny or allow. Please note that based on your settings not all functionalities of the site are available. View our privacy policy.

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