Cervical Cancer Methylation Assay

Cervical cancer remains a major public health concern worldwide, approximately 20% of cancer-related deaths are attributed to Human Papillomavirus (HPV) infection, which is linked to six HPV-related cancers. Despite vaccination and screening efforts, HPV continues to claim numerous lives. Primarily caused by persistent infection with high-risk human papillomavirus (HPV). While HPV DNA testing has high sensitivity, it lacks specificity for identifying precancerous lesions, often resulting in unnecessary follow-up procedures. In this study, we focus on cervical cancer, which is a pressing issue in Saudi Arabia due to the absence of a national cervical screening program, which leads to a high fatality rate among diagnosed females, with 50% of women losing their lives. Given the strong evidence linking cancer and hypermethylation, recent studies suggest that host and viral DNA methylation patterns offer a promising biomarker for improving triage strategies, enabling the early detection of women at highest risk of progressing to cervical cancer.

Our study aims to develop a customized DNA Methylation Assay for Saudi women, considering population-specific gene regulation (epigenetics) influenced by environmental factors. The research is structured in phases. Phase I will analyze methylation profiles in 60 women with precancerous cervical lesions and 20 healthy controls to establish baseline performance and optimize the assay protocol. Though modest in sample size due to limited local cases, this phase will generate foundational data. Phase II will expand the study cohort to validate the optimized classifier in a larger population, ensuring statistical robustness and clinical applicability. Demographic and clinical data will be collected to account for confounding variables, with strict exclusion of patients positive for sexually transmitted infections (other than HPV), to minimize bias.

Ultimately, this project will generate clinically relevant evidence for adopting HPV methylation as an effective triage test, aligning with international best practices while responding to national healthcare priorities for women’s health.