INTERNATIONAL CONGRESS OF
PharmacoGenetics
Genetic Polymorphisms of Cancer
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Kimiyayarahmadi ,1,* Sogoltaher,2
- Introduction: IntroductionGenetic polymorphisms, variations in DNA sequences within a population featuring multiple alleles per gene, significantly influence traits and disease susceptibility, notably cancer. These variations affect how individuals respond to environmental factors, treatments, and cancer risk, with some polymorphisms elevating risks for cancers like breast or lung cancer, while others offer protective effects. Ongoing research, as noted by Achilla et al. (2023), ties specific polymorphisms to cancer types, shaping personalized treatment strategies and enhancing patient outcomes. Understanding these mechanisms, which drive tumor development and progression, is crucial for effective prevention and therapy, as emphasized by Kong et al. (2023). As of September 10, 2025, at 11:09 PM +04, this field’s exploration provides a foundation for advancing cancer biology and tailoring interventions.
- Methods: MethodsResearch on genetic polymorphisms in cancer uses advanced techniques. Next-generation sequencing (NGS) identifies mutations in genes affecting cell growth, while quantitative PCR (qPCR) and RNA sequencing (RNA-seq) assess gene expression changes due to polymorphisms. Structural biology, including X-ray crystallography, evaluates protein function alterations. Genome-wide association studies (GWAS) compare cancer patient and control genomes to pinpoint risk alleles, supported by meta-analyses (Lindström et al., 2023). Clinical studies, like those by Vidotto et al. (2023), explore DNA repair gene defects and cisplatin efficacy in muscle-invasive bladder cancer (MIBC). Ethical frameworks ensure data privacy, with computational tools integrating findings to guide personalized medicine,
- Results: ResultsThese methods have uncovered critical insights. Mutations from polymorphisms disrupt cell functions, with some enhancing DNA repair to reduce cancer risk, while others, like those in growth-related genes, promote proliferation (Marisa et al., 2023). GWAS identified risk alleles for breast and lung cancer, with a meta-analysis revealing new genomic regions (Lindström et al., 2023). Clinically, polymorphisms guide targeted therapies, such as PI3K inhibitors in breast cancer (Tufail et al., 2023), improving efficacy. However, challenges include complex gene-environment interactions, population-specific biases in studies, and ethical concerns like data misuse
- Conclusion: ConclusionGenetic polymorphisms are transforming cancer research by elucidating their role in tumor development and treatment response, enabling personalized medicine as of September 10, 2025, at 11:09 PM +04. Advances in NGS and GWAS have identified risk alleles and therapeutic targets, enhancing patient outcomes, yet challenges like ethical issues, study biases, and interaction complexities persist. Future directions, including multi-omics and CRISPR, promise precise therapies tailored to genetic profiles, improving survival rates. Addressing these challenges through inclusive research and robust ethical guidelines will ensure equitable, effective cancer care globally.
- Keywords: KeywordsGenetic polymorphisms, cancer, mutations, GWAS, personalized medicine, DNA repair, risk alle
