Treffer: dbGVOSCC: a comprehensive database of genetic variation for systems genetics research on oral squamous cell carcinoma.

Title:
dbGVOSCC: a comprehensive database of genetic variation for systems genetics research on oral squamous cell carcinoma.
Authors:
Zhou Y; Department of Breast Surgery and Institute for Systems Genetics, Frontiers Science Center for Disease-Related Molecular Network, West China Hospital, Sichuan University, Chengdu, China., Wu Y; Department of Breast Surgery and Institute for Systems Genetics, Frontiers Science Center for Disease-Related Molecular Network, West China Hospital, Sichuan University, Chengdu, China.; State Key Laboratory of Oral Diseases & National Clinical Research Center for Oral Diseases & Engineering Research Center of Oral Translational Medicine, Ministry of Education & National Engineering Laboratory for Oral Regenerative Medicine, West China Hospital of Stomatology, Sichuan University, Chengdu, China., Shi W; Department of Breast Surgery and Institute for Systems Genetics, Frontiers Science Center for Disease-Related Molecular Network, West China Hospital, Sichuan University, Chengdu, China.; 01life Institute, Shenzhen, China., Zhang Y; Department of Breast Surgery and Institute for Systems Genetics, Frontiers Science Center for Disease-Related Molecular Network, West China Hospital, Sichuan University, Chengdu, China., Liu X; Department of Breast Surgery and Institute for Systems Genetics, Frontiers Science Center for Disease-Related Molecular Network, West China Hospital, Sichuan University, Chengdu, China., Zhang Y; Department of Breast Surgery and Institute for Systems Genetics, Frontiers Science Center for Disease-Related Molecular Network, West China Hospital, Sichuan University, Chengdu, China., Zhan C; Department of Breast Surgery and Institute for Systems Genetics, Frontiers Science Center for Disease-Related Molecular Network, West China Hospital, Sichuan University, Chengdu, China., Chen B; Department of Breast Surgery and Institute for Systems Genetics, Frontiers Science Center for Disease-Related Molecular Network, West China Hospital, Sichuan University, Chengdu, China., Tian W; State Key Laboratory of Oral Diseases & National Clinical Research Center for Oral Diseases & Engineering Research Center of Oral Translational Medicine, Ministry of Education & National Engineering Laboratory for Oral Regenerative Medicine, West China Hospital of Stomatology, Sichuan University, Chengdu, China., Shen B; Department of Breast Surgery and Institute for Systems Genetics, Frontiers Science Center for Disease-Related Molecular Network, West China Hospital, Sichuan University, Chengdu, China.
Source:
Frontiers in oncology [Front Oncol] 2025 Oct 31; Vol. 15, pp. 1692732. Date of Electronic Publication: 2025 Oct 31 (Print Publication: 2025).
Publication Type:
Journal Article
Language:
English
Journal Info:
Publisher: Frontiers Research Foundation] Country of Publication: Switzerland NLM ID: 101568867 Publication Model: eCollection Cited Medium: Print ISSN: 2234-943X (Print) Linking ISSN: 2234943X NLM ISO Abbreviation: Front Oncol Subsets: PubMed not MEDLINE
Imprint Name(s):
Original Publication: [Lausanne : Frontiers Research Foundation]
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Contributed Indexing:
Keywords: cancer heterogeneity; dbGVOSCC database; genetic variations; oral squamous cell carcinoma; precision oncology
Entry Date(s):
Date Created: 20251117 Date Completed: 20251117 Latest Revision: 20251120
Update Code:
20251121
PubMed Central ID:
PMC12616376
DOI:
10.3389/fonc.2025.1692732
PMID:
41244916
Database:
MEDLINE

Weitere Informationen

Introduction: Oral squamous cell carcinoma (OSCC) is a highly aggressive malignancy of the oral epithelium, marked by a high rate of lymph node metastasis and a profound negative impact on patients' quality of life. Despite its severity, no routine screening program currently exists for OSCC. To address the genetic heterogeneity underlying OSCC, we have developed a database of genetic variation in oral squamous cell carcinoma (dbGVOSCC; http://www.sysbio.org.cn/dbGVOSCC/).
Methods: OSCC literature (1991-2024) was queried from PubMed and screened manually and via PubTator, following predefined inclusion/exclusion criteria. Entities and relations were extracted from qualifying articles and organized into tables. The database adopted a browser/server architecture using HTML and XAMPP. Front-end was built with HTML and CSS for web display; server-side used Apache for infrastructure, MySQL for data management, and PHP/JavaScript for backend-frontend integration. Bioinformatics included mapping genes to STRING (confidence >0.9), hub gene identification via PPI degree centrality, and GO/KEGG enrichment with clusterProfiler (FDR-corrected). Usability was assessed using SUS and NPS surveys.
Results: dbGVOSCC comprises 1,788 somatic genetic variation entries from 400 original studies and 106,079 clinical samples, covering epimutations/methylations (329), SNPs (411), point mutations excluding SNP (258), indels (98), CNVs (348), LOH (28), one locus mutation, plus 333 unspecified mutations. We curated 817 biomarker-linked variations (diagnostic n=71, therapeutic n=175, prognostic n=291; 277 multi-application). PPI analysis highlighted 15 key genes (e.g., TP53, CTNNB1, AKT1, EGFR, PIK3CA). Enrichment implicated proliferation, adhesion/migration, p53/DNA damage response, and PI3K-Akt signaling. User testing showed SUS 88.75 (grade A) and NPS 90.
Discussion: dbGVOSCC represents a robust and reliable knowledge base, offering clinicians and researchers an open-source platform for personalized genotype-phenotype association studies and systems genetics research into the mechanisms of OSCC.
(Copyright © 2025 Zhou, Wu, Shi, Zhang, Liu, Zhang, Zhan, Chen, Tian and Shen.)

Author WS was employed by company 01life Institute. The remaining authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest. The author(s) declared that they were an editorial board member of Frontiers, at the time of submission. This had no impact on the peer review process and the final decision.