International Journal of Molecular Medical Science, 2025, Vol.15, No.1, 9-19 http://medscipublisher.com/index.php/ijmms 9 Research Insight Open Access Emerging Genomic Biomarkers for Early Detection of Oral Cancer HuaGuo 1,2 1 Zhuji People’s Hospital, Zhuji, 311800, Zhejiang, China 2 Zhuji Hospital of Wenzhou Medical University, Zhuji, 311800, Zhejiang, China Corresponding author: guohua0102@163.com International Journal of Molecular Medical Science, 2025, Vol.15, No.1 doi: 10.5376/ijmms.2025.15.0002 Received: 14 Nov., 2024 Accepted: 31 Dec., 2024 Published: 16 Jan., 2025 Copyright © 2025 Guo, This is an open access article published under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Preferred citation for this article: Guo H., 2025, Emerging genomic biomarkers for early detection of oral cancer, International Journal of Molecular Medical Science, 15(1): 9-19 (doi: 10.5376/ijmms.2025.15.0002) Abstract Oral cancer, particularly Oral Squamous Cell Carcinoma (OSCC), remains a significant global health challenge due to its high mortality rate and late-stage diagnosis. Emerging genomic biomarkers offer a promising path for the early detection and improved management of OSCC. This study highlights recent advances in genomic biomarker research, focusing on DNA-based, RNA-based, and protein-based biomarkers, as well as circulating tumor DNA (ctDNA). The integration of multi-omics approaches, such as genomics, transcriptomics, and proteomics, provides a comprehensive view of the molecular alterations in OSCC, enhancing the precision of early diagnosis. Additionally, Artificial Intelligence (AI) has emerged as a key tool in the discovery and interpretation of complex biomarker data, enabling more accurate predictions of disease outcomes. Despite these advancements, challenges such as technical limitations, tumor heterogeneity, and regulatory hurdles hinder the widespread clinical adoption of genomic diagnostics. This study discusses these barriers and suggests future directions to enhance the clinical utility of genomic biomarkers, aiming to bridge the gap between research and practical implementation for early OSCC detection. Keywords Oral cancer; Genomic biomarkers; Early detection; Multi-omics; Artificial intelligence 1 Introduction Oral cancer is a significant global health issue, with over 300 000 new cases diagnosed annually, particularly prevalent in regions like South and Southeast Asia, including India, Sri Lanka, and Bangladesh. Despite advances in medical technologies and treatment approaches, the overall five-year survival rate for oral cancer remains low, primarily due to late-stage diagnosis. Risk factors such as smoking, alcohol consumption, and high-risk Human Papilloma Virus (HPV) infections are major contributors, especially in developing countries (D’Souza and Saranath, 2017). Traditional diagnostic methods include physical examinations, tissue biopsies, and imaging techniques like CT, MRI, and PET scans. While essential in clinical practice, these methods often fail to detect the disease in its early stages. Biopsies are invasive and can cause patient discomfort, and imaging techniques are usually employed after symptoms manifest, limiting their role in early detection and contributing to the high mortality rate associated with late diagnosis (Khurshid et al., 2018). The limitations of current diagnostic methods highlight the urgent need for new genomic biomarkers to improve diagnostic sensitivity and specificity. Genomic biomarkers, such as DNA mutations, RNA expression profiles, and methylation patterns, can reveal molecular changes occurring at the early stages of cancer, providing a foundation for more accurate diagnosis. Recent advancements in Next-Generation Sequencing (NGS) and liquid biopsy techniques have enabled researchers to detect circulating tumor DNA (ctDNA) and microRNAs (miRNAs) in body fluids like saliva and blood, offering a non-invasive approach for early diagnosis (Falzone et al., 2019). These biomarkers not only aid in early cancer detection but also in monitoring disease progression and assessing therapeutic responses, making them valuable tools for personalized medicine and improving patient outcomes (Sinevici and O'Sullivan, 2016). This study aims to systematically evaluate the potential of various emerging genomic biomarkers for early detection of oral cancer, including DNA, RNA, protein, and circulating tumor DNA (ctDNA) markers. It will focus on understanding the molecular mechanisms of these biomarkers in cancer initiation and progression, and
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