Persistent infection with high-risk Human Papillomavirus (HPV) is the primary cause of cervical cancer and is implicated in other anogenital and oropharyngeal cancers. While current screening strategies, primarily cytology (Pap smear) and HPV DNA testing, have significantly reduced cervical cancer incidence, significant limitations remain. These include limited sensitivity for precancerous lesions (cytology), inability to distinguish transient infections from those likely to progress to cancer (HPV DNA testing), and variable implementation globally, especially in low-resource settings. There is an urgent need for novel, highly sensitive, and specific diagnostic tools capable of detecting HPV-driven oncogenic processes early and accurately stratifying individual risk for progression. Leveraging advances in genetics, genomics, and molecular biology holds immense promise for identifying robust biomarkers and developing next-generation assays that move beyond mere viral detection towards true prognostic capability.

This Research Topic aims to compile cutting-edge research exploring and applying genetic and genomic strategies to revolutionize the early detection of clinically significant HPV infections and precancerous lesions. We seek to foster contributions that identify and validate novel molecular biomarkers (e.g., host and viral DNA methylation, integration events, mutations in host genes, non-coding RNAs, proteomic signatures) indicative of progression risk. A key goal is to highlight the development and validation of highly sensitive and specific assays, including point-of-care and liquid biopsy technologies, utilizing these biomarkers. Furthermore, we aim to showcase research on the integration of multi-omics data (genomics, epigenomics, transcriptomics) for improved risk prediction models. Ultimately, this collection will advance our understanding of HPV carcinogenesis at the molecular level and accelerate the translation of genetic discoveries into clinically actionable diagnostics that enable earlier, more precise interventions, reduce overtreatment, and improve outcomes across diverse populations.

This Research Topic welcomes original research articles, reviews (systematic, mini, perspectives), and method papers focusing on the genetic and genomic underpinnings of early HPV diagnostics. Relevant themes include, but are not limited to:

Discovery and validation of novel host or viral genetic/epigenetic biomarkers (methylation, mutations, integration, miRNA, lncRNA) for early detection and risk stratification.

Development and clinical validation of novel molecular assays (e.g., based on NGS, PCR, isothermal amplification, microarrays, biosensors) utilizing these biomarkers.

Application of multi-omics approaches (genomics, epigenomics, transcriptomics, proteomics) to HPV diagnostics and risk prediction.

Non-invasive approaches (liquid biopsy: blood, urine, self-samples) for early detection.

Studies on viral heterogeneity, evolution, and oncogene expression related to early disease.

Implementation science and cost-effectiveness analyses of novel genetic/genomic HPV tests. Crucially, submissions must have a strong genetic, epigenetic, or genomic component relevant to HPV diagnostics. All manuscripts must adhere to Frontiers in Genetics guidelines, including ethical standards and rigorous methodology reporting.

Are you interested in contributing a manuscript to this Research Topic?

Molecular Innovations in HPV Diagnostics

Topic Coordinator