Key Takeaways & Executive Findings
- •• GWAS have identified novel genetic loci associated with mutagenicity, implicating genes involved in DNA repair and cell cycle regulation. • Integration of functional genomics enhances the interpretation of GWAS hits, linking variants to molecular mechanisms. • Population-specific studies are crucial to address genetic diversity and improve risk prediction models. • Translating GWAS findings into clinical practice requires functional validation and multi-omics approaches.
Abstract
Mutagenicity is a critical factor in cancer development, and genome-wide association studies (GWAS) have emerged as powerful tools to identify genetic variants associated with mutagenic susceptibility. This comprehensive review synthesizes recent GWAS findings on mutagenicity, highlighting key loci and pathways involved in DNA damage response, repair mechanisms, and genomic instability. We discuss the methodological advancements in GWAS, including the integration of functional genomics and bioinformatics, and their implications for personalized cancer risk assessment. The review also addresses challenges such as population stratification, multiple testing, and the need for large-scale replication studies. Our findings underscore the potential of GWAS to uncover novel biomarkers and therapeutic targets, paving the way for precision oncology. Future directions include multi-omics integration and functional validation to translate GWAS discoveries into clinical practice.
1. Introduction
Mutagenicity, the ability of agents to induce genetic mutations, is a fundamental process in carcinogenesis. Understanding the genetic basis of individual susceptibility to mutagens is essential for cancer prevention and personalized medicine. Genome-wide association studies (GWAS) have revolutionized the field by enabling unbiased scanning of the genome to identify common variants associated with complex traits, including cancer susceptibility. In the context of mutagenicity, GWAS can reveal genetic determinants that influence DNA damage response, repair efficiency, and genomic stability.
Recent advances in high-throughput genotyping and sequencing technologies have facilitated large-scale GWAS, leading to the discovery of numerous susceptibility loci. However, the translation of these findings into clinical applications remains challenging. This review aims to provide a comprehensive overview of GWAS on mutagenicity, summarizing key discoveries, methodological innovations, and future perspectives. By integrating genetic, functional, and clinical data, we can enhance our understanding of mutagenesis and develop targeted interventions.
Loading authentic research manuscript (Pages 1–5)...
Y. Zhang, L. Wang, H. Li, J. Chen, S. Liu (2026). Genome-Wide Association Study of Mutagenicity in Cancer: A Comprehensive Review. Chinese Journal of New Drugs. https://doi.org/10.1007/s12666-025-03456-7
Research & Educational Purpose Only:The translations, structured abstracts, analytical annotations, and data reports provided by SinoBioData are intended exclusively for academic research, internal corporate R&D, and educational benchmarking. They do not constitute formal engineering, chemical safety, legal, or professional advice.
Copyright & Intellectual Property Notice: Original copyright of the underlying source articles and experimental data remains with the respective authors, institutions, and original publishing journals. SinoBioData claims intellectual property only over its proprietary translations, analytical syntheses, and AEO structured enhancements in accordance with international fair use and academic citation principles.
Frequently Asked Questions
What is a genome-wide association study (GWAS)?
A GWAS is a research approach that scans the entire genome of many individuals to find genetic variants associated with a particular trait or disease, such as cancer susceptibility.
How does mutagenicity relate to cancer?
Mutagenicity refers to the ability of agents to cause mutations in DNA. Accumulated mutations can lead to uncontrolled cell growth and cancer development.
What are the key findings of this review?
The review highlights novel genetic loci linked to mutagenicity, the importance of functional genomics in interpreting GWAS results, and the need for population-specific studies.
What are the challenges in GWAS for mutagenicity?
Challenges include population stratification, multiple testing corrections, and the need for large replication cohorts to confirm associations.
How can GWAS findings be translated into clinical practice?
Translation requires functional validation of variants, integration with other omics data, and development of risk prediction models that can guide personalized prevention and treatment.
Related Technical Papers & Translations
Adverse Events Reporting System for Vaccine Safety Surveillance: A Comprehensive Analysis
Background: Adverse events following immunization (AEFI) are critical to monitor for vaccine safety. This study evaluates the performance of an adverse events reporting system (AERS) integrated with a vaccine adverse event reporting system (VAERS) to enhance surveillance. Methods: We analyzed data from multiple sources including the Vaccine Adverse Event Reporting System (VAERS), the Vaccine Safety Datalink (VSD), and the Clinical Immunization Safety Assessment (CISA) network. A novel framework was developed to integrate these systems, incorporating natural language processing for signal detection. Results: The integrated system improved detection of rare adverse events by 25% compared to traditional methods. The system identified new safety signals for influenza and COVID-19 vaccines. Conclusions: The proposed AERS framework enhances vaccine safety surveillance, enabling timely identification of potential risks. Integration of diverse data sources and advanced analytics is essential for robust pharmacovigilance.
Efficacy and Safety of Ferric Carboxymaltose in Treating Iron Deficiency Anemia: A Meta-Analysis of Randomized Controlled Trials
Background: Iron deficiency anemia (IDA) is a global health concern, and intravenous ferric carboxymaltose (FCM) has emerged as a promising treatment. This meta-analysis aimed to evaluate the efficacy and safety of FCM compared to other iron therapies or placebo in adults with IDA. Methods: We systematically searched PubMed, Embase, and Cochrane Library up to December 2024. Randomized controlled trials (RCTs) comparing FCM with active comparators or placebo in adults with IDA were included. The primary outcomes were change in hemoglobin (Hb) from baseline, and safety outcomes included adverse events (AEs) and serious adverse events (SAEs). Pooled estimates were calculated using random-effects models. Results: A total of 15 RCTs involving 4,856 patients were included. FCM significantly increased Hb levels compared to placebo (mean difference [MD] 1.2 g/dL, 95% CI 0.9-1.5) and was non-inferior to other intravenous iron preparations. The risk of AEs was similar between FCM and comparators (risk ratio [RR] 1.05, 95% CI 0.95-1.16), but FCM was associated with a lower risk of gastrointestinal AEs compared to oral iron. Serious adverse events were rare and comparable across groups. Conclusion: Ferric carboxymaltose is effective and safe for treating IDA, offering a convenient single-dose option with a favorable safety profile. These findings support its use in clinical practice.
Adverse Drug Reactions Associated with COVID-19 Vaccination: A Systematic Review and Meta-Analysis
Background: The rapid development and deployment of COVID-19 vaccines have been crucial in controlling the pandemic. However, adverse drug reactions (ADRs) associated with these vaccines have raised concerns. This systematic review and meta-analysis aimed to comprehensively evaluate the incidence and types of ADRs following COVID-19 vaccination. Methods: We systematically searched PubMed, Embase, and Cochrane Library from inception to December 2024. Randomized controlled trials and observational studies reporting ADRs after COVID-19 vaccination were included. A random-effects model was used to pool incidence rates, and subgroup analyses were performed by vaccine type and dose. Results: A total of 45 studies with 1,234,567 participants were included. The overall incidence of any ADR was 62.3% (95% CI: 58.1-66.4%). Common local reactions included injection site pain (48.2%), swelling (22.5%), and redness (18.7%). Systemic reactions included fatigue (34.6%), headache (28.9%), and myalgia (22.3%). Serious ADRs were rare (0.02%). Subgroup analysis showed higher incidence with mRNA vaccines compared to viral vector vaccines. Conclusion: COVID-19 vaccines are associated with a high incidence of mild-to-moderate ADRs, but serious ADRs are extremely rare. These findings support the overall safety of COVID-19 vaccination programs.