Cancer Genetics and Epigenetics 2024, Vol.12, No.2, 97-105 http://medscipublisher.com/index.php/cge 98 2 Genetic Markers in Prostate Cancer 2.1 Genetic predisposition and prostate cancer Prostate cancer (PCa) exhibits a significant genetic component, with familial and hereditary patterns observed in many cases. Studies have shown that prostate cancer has the highest degree of genetic transmission among malignancies, with some families displaying patterns akin to autosomal dominant traits (Lynch et al., 2016). Genome-wide association studies (GWAS) have identified numerous genetic polymorphisms and inherited variants associated with increased PCa risk. These genetic markers can help identify men at higher risk, particularly those with a family history of the disease (Figure 1) (Ni Raghallaigh and Eeles, 2022). For instance, a locus on chromosome 1q42.2-43 has been identified as carrying a putative predisposing gene for early-onset prostate cancer. The identification of such genetic predispositions is crucial for developing targeted screening strategies for high-risk individuals. Figure 1 The spectrum of genetic variants in polygenic disease (i.e. PrCa) (Adopted from Ni Raghallaigh and Eeles, 2022) Image caption: The x-axis plots the risk allele frequency and effect size along the y-axis. The top right corner represents common variants with large effect sizes (none known). The bottom left corner represents rare variants with small effect size (Adopted from Ni Raghallaigh and Eeles, 2022) Prostate cancer is a polygenic disease, where genetic factors play a significant role in the risk of developing the condition. Men with a family history, especially those with brothers or fathers who have the disease, have a significantly increased risk. Ni Raghallaigh and Eeles (2022) emphasized the importance of genetic screening and early detection in high-risk populations to enable timely intervention and treatment, thereby reducing morbidity and mortality. Genome-Wide Association Studies (GWAS) have provided valuable genetic information, helping to identify numerous gene polymorphisms and variants associated with prostate cancer (PrCa). 2.2 Key genetic markers Several genetic markers have been identified as significant in the context of prostate cancer. Single nucleotide polymorphisms (SNPs) such as rs6983561 (8q24), rs10993994 (10q11), and rs4430796 (17q12) have been associated with early-onset prostate cancer. These markers, when combined with traditional screening methods like prostate-specific antigen (PSA) testing, can improve the predictive accuracy for prostate cancer diagnosis (Nam et al., 2009; Hughes et al., 2012). Additionally, genomic biomarkers such as PCA3 RNA and TMPRSS2-ERG gene fusion have shown promise in aiding screening and improving prognostic discrimination (Choudhury et al., 2012). The integration of these genetic markers into clinical practice can enhance the early
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