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

Abstract

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

0 Comments

Weekly Editorial

18 October 2021 : Editorial

Editorial: Global Initiatives Support the Use and Regulation of Digital Health Technology During the COVID-19 Pandemic

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

SARS-CoV-2/COVID-19

11 October 2021 : Clinical Research

Clinical Features and Temporal Lung Radiographic Changes in 25 Patients Recovering from COVID-19 Pneumonia:...

Med Sci Monit In Press; DOI: 10.12659/MSM.933381  

08 September 2021 : Clinical Research

Acceptance of COVID-19 Vaccination and Its Associated Factors Among Cancer Patients Attending the Oncology ...

Med Sci Monit In Press; DOI: 10.12659/MSM.932788  

12 October 2021 : Review article

Silent Hypoxemia in Patients with COVID-19 Pneumonia: A Review

Med Sci Monit 2021; 27:e930776

In Press

18 Oct 2021 : Clinical Research

Adverse Side Effects Associated with Corticosteroid Therapy: A Study in 39 Patients with Generalized Myasth...

Med Sci Monit In Press; DOI: 10.12659/MSM.933296  

13 Oct 2021 : Clinical Research

Endovascular Repair of Thoracic Aorta Injury: 17 Years of Single-Center Experience

Med Sci Monit In Press; DOI: 10.12659/MSM.934479  

11 Oct 2021 : Clinical Research

Challenges for Polish Community Pharmacists in Provision of Services to Immigrants and Non-Polish-Speakers ...

Med Sci Monit In Press; DOI: 10.12659/MSM.933678  

11 Oct 2021 : Clinical Research

Epidemiology of Birth Defects in Eastern China and the Associated Risk Factors

Med Sci Monit In Press; DOI: 10.12659/MSM.933782  

Most Viewed Current Articles

20 Mar 2020 : Clinical Research

Social Capital and Sleep Quality in Individuals Who Self-Isolated for 14 Days During the Coronavirus Diseas...

DOI :10.12659/MSM.923921

Med Sci Monit 2020; 26:e923921

15 Apr 2020 : Clinical Research

Psychological Impact and Coping Strategies of Frontline Medical Staff in Hunan Between January and March 20...

DOI :10.12659/MSM.924171

Med Sci Monit 2020; 26:e924171

05 May 2020 : Review article

An Evidence Based Perspective on mRNA-SARS-CoV-2 Vaccine Development

DOI :10.12659/MSM.924700

Med Sci Monit 2020; 26:e924700

26 Apr 2020 : Clinical Research

Comparison of Prevalence and Associated Factors of Anxiety and Depression Among People Affected by versus P...

DOI :10.12659/MSM.924609

Med Sci Monit 2020; 26:e924609

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