International Journal of Molecular Medical Science, 2024, Vol.14, No.5, 264-273 http://medscipublisher.com/index.php/ijmms 1 Review Article Open Access Early Screening and Prevention Strategies for Cervical Cancer Based on Genetic Markers Shanshan Li 1, Mingzi Huang2, Chunyan Ji 1 1 Prenatal Diagnosis Center, Department of the gynecology and obstetrics, The Sixth Medical Center of PLA General Hospital, Beijing, 100048, Beijing, China 2 Liuliqiao Outpatient Department, Jingnan Medical Area of PLA General Hospital, Beijing, 100161, Beijing, China Corresponding author: jichunyan218@sina.com International Journal of Molecular Medical Science, 2024, Vol.14, No.5 doi: 10.5376/ijmms.2024.14.0028 Received: 16 Jun., 2024 Accepted: 24 Aug., 2024 Published: 06 Sep., 2024 Copyright © 2024 Li et al., 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: Li S.S., Huang M.Z., and Ji C.Y., 2024, Early screening and prevention strategies for cervical cancer based on genetic markers, International Journal of Molecular Medical Science, 14(5): 264-273 (doi: 10.5376/ijmms.2024.14.0028) Abstract Cervical cancer remains a significant public health issue, especially in low- and middle-income countries. While traditional screening methods such as Pap smears and HPV DNA testing have reduced the incidence and mortality of cervical cancer, they are limited in sensitivity, specificity, and the ability to differentiate between transient and persistent high-risk infections. This study reviews the current status of cervical cancer screening and prevention, with a focus on the role of genetic markers in enhancing early screening accuracy and guiding personalized prevention strategies. The paper also addresses challenges associated with implementing these advanced methods, including cost, accessibility, ethical considerations, and the need for healthcare system adaptation. Recent advancements in genetic marker-based screening, such as next-generation sequencing (NGS), DNA methylation panels, and emerging biomarkers like microRNAs (miRNAs), have opened up new avenues for early detection and more precise risk stratification. Embracing these advancements can enable healthcare systems to enhance early detection and prevention of cervical cancer, ultimately reducing its global burden. Keywords Cervical cancer; Genetic markers; Early screening; DNA methylation; Next-generation sequencing (NGS); Artificial intelligence (AI) 1 Introduction Cervical cancer remains one of the most prevalent gynecological cancers globally, particularly impacting women in low- and middle-income countries (Zhang et al., 2022). The primary cause of this disease is persistent infection with high-risk types of human papillomavirus (HPV), which can lead to precancerous lesions and, if left untreated, progress to invasive cancer (Li et al., 2020). Despite advancements in screening techniques, including the Papanicolaou (Pap) smear and HPV DNA testing, cervical cancer continues to be a significant public health challenge, especially in areas with limited healthcare resources and insufficient screening coverage (Lu et al., 2020). Early detection and prevention are vital for reducing the morbidity and mortality associated with this disease, highlighting the urgent need for improved screening strategies that can more effectively identify high-risk individuals (Lee et al., 2020). Recent advances in molecular biology have underscored the significance of genetic and epigenetic markers in the early detection and prevention of cervical cancer. High-risk HPV infection triggers a series of genetic and epigenetic changes in host cells, playing a key role in cervical carcinogenesis (Malik et al., 2023). Genetic markers, such as DNA methylation patterns, gene mutations, and alterations in microRNA (miRNA) expression, have demonstrated greater specificity and sensitivity in identifying high-grade precancerous lesions compared to traditional cytology-based methods (Jeannot et al., 2021). For example, DNA methylation markers have emerged as a promising strategy for triaging HPV-positive women, helping to distinguish between transient infections and those that could progress to cervical intraepithelial neoplasia (CIN) (Wittenborn et al., 2020; Tu et al., 2022). These markers provide deeper insights into the molecular changes linked to cervical cancer development, opening new pathways for early screening, risk stratification, and targeted prevention strategies (Gradissimo and Burk, 2017). This study aims to examine the current landscape of early screening and prevention strategies for cervical cancer, with a particular emphasis on the role of genetic markers. By synthesizing the latest advancements in genetic
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