Introduction: The discovery of genetic biomarkers has revolutionized cancer epidemiology, empowering us with vital tools for early detection and screening. These biomarkers not only enable us to identify individuals at higher risk for developing cancer but also allow us to tailor prevention strategies. As our understanding of cancer's molecular basis grows, integrating genetic biomarkers into routine screening protocols becomes increasingly feasible, giving us the power to take proactive steps in the fight against cancer.
Methods: This review analyzes recent research on genetic biomarkers in cancer epidemiology, focusing on their early detection and screening role. We examined studies published from 2016 to 2024 across databases such as Google Scholar, PubMed, and ScienceDirect, highlighting how various genetic markers can identify cancer risk and inform screening practices.
Results: Research has identified critical genetic mutations as crucial indicators of cancer risk. For example, mutations in BRCA1 and BRCA2 significantly increase the risk of breast and ovarian cancers. Other mutations, like those in TP53 and MLH1, are linked to colorectal cancer and additional malignancies. Detecting these genetic alterations enhances risk stratification, enabling healthcare providers to recommend earlier and more frequent screenings for high-risk individuals. The emergence of polygenic risk scores, which assess the cumulative impact of multiple genetic variants, further improves predictive capabilities for various cancers. These scores offer a nuanced understanding of risk, helping identify individuals who may benefit from proactive surveillance even without well-known mutations.
At the molecular level, genetic biomarkers reveal the underlying changes driving cancer progression. For instance, BRCA1 and BRCA2 mutations disrupt DNA repair processes, leading to genomic instability—a hallmark of cancer. Similarly, mutations in TP53, a vital tumor suppressor gene, compromise the cell's ability to regulate the cell cycle and apoptosis, allowing damaged cells to survive and proliferate.
Understanding these molecular mechanisms not only aids in identifying at-risk individuals but also highlights potential therapeutic targets. This insight opens avenues for targeted interventions, such as PARP inhibitors for those with BRCA mutations, illustrating the critical role of genetic biomarkers in comprehensive cancer care.
Conclusion: Integrating genetic biomarkers into cancer epidemiology offers significant promise for enhancing early detection and screening efforts. As we advance our knowledge of cancer genetics, incorporating these biomarkers into public health strategies is essential for effective prevention. Continued research and clinical validation are necessary to refine screening guidelines, ensuring high-risk individuals receive appropriate monitoring and interventions. By leveraging genetic insights, we can move closer to a future where cancer is detected earlier and treated more effectively.
Keywords: Biomarkers, Cancer Genetic, Cancer Epidemiology, Cancer Biomarker