GENETIC FACTORS OF CANCER AND THEIR ANALYSIS
DOI:
https://doi.org/10.5281/zenodo.15558914Keywords:
Cancer genetics, germline mutations, somatic mutations, oncogenes, tumor suppressor genes, epigenetics, next-generation sequencing, single-cell sequencing, spatial transcriptomics, CRISPR-Cas9, bioinformatics, precision oncology, tumor heterogeneity, liquid biopsy, polygenic risk scores, tumor mutational burden, immunotherapy, artificial intelligence, multi-omics, gene therapy.Abstract
This article provides a comprehensive exploration of the genetic factors driving cancer development and the advanced methodologies employed to analyze them. It delves into the roles of germline and somatic mutations, epigenetic modifications, and their interactions with the tumor microenvironment in oncogenesis. Germline mutations, such as those in BRCA1/2 and mismatch repair genes, confer hereditary cancer risk, while somatic mutations in oncogenes (e.g., KRAS, EGFR) and tumor suppressor genes (e.g., TP53, PTEN) drive tumor progression. The article highlights the distinction between driver and passenger mutations and the complexity introduced by tumor heterogeneity and epigenetic alterations like DNA methylation and non-coding RNA dysregulation.
References
Ding, L., Wendl, M. C., McMichael, J. F., et al. (2018). Expanding the landscape of somatic mutations in cancer through integrative genomics. Nature Genetics, 50(3), 315-323. https://doi.org/10.1038/s41588-018-0060-8
Kadoch, C., Crabtree, G. R., & Chang, H. Y. (2019). Chromatin remodeling and cancer: Insights from epigenetic regulation. Nature Reviews Cancer, 19(7), 383-397. https://doi.org/10.1038/s41568-019-0150-8
Martincorena, I., & Campbell, P. J. (2015). Somatic mutation in cancer and normal cells. Science, 349(6255), 1483-1489. https://doi.org/10.1126/science.aab4082
Rizvi, N. A., Hellmann, M. D., Snyder, A., et al. (2015). Mutational landscape determines sensitivity to PD-1 blockade in non-small cell lung cancer. Science, 348(6230), 124-128. https://doi.org/10.1126/science.aaa1348
Tu, M. M., Lee, F. Y. F., Jones, R. T., et al. (2020). Single-cell genomics in cancer: Emerging technologies and clinical applications. Nature Reviews Genetics, 21(4), 235-248. https://doi.org/10.1038/s41576-019-0196-2
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