Hydrolysis probe-based real-time PCR as an SNP genotyping method: an application in pharmacogenetic study of lung cancer patients

Single-nucleotide polymorphisms (SNPs) play a crucial role in determining an individual’s susceptibility to diseases and influencing their response to drugs. Among the various techniques available for SNP genotyping, hydrolysis probe-based real-time polymerase chain reaction (PCR) has emerged as a highly sensitive and cost-effective method, offering both accuracy and specificity. This method has proven particularly valuable in lung cancer research, where its potential to advance pharmacogenetics holds immense promise. Lung cancer remains the leading cause of cancer-related mortality worldwide, with genetic variations serving as critical markers for both screening and treatment. This review examines the principles, mechanisms, and applications of probes in SNP genotyping, with a focus on method validation and quality control. Hydrolysis probes are distinguished by their high sensitivity and specificity but face challenges such as inconsistent quality control and limitations in multiplex assays. This review underscores the importance of robust validation processes in ensuring the reliability of research findings and facilitating the translation of basic studies into clinical applications. By addressing these challenges, hydrolysis probe-based SNP genotyping can significantly contribute to advancing personalized medicine, particularly in the context of lung cancer research.