Department of Molecular Medicine, Faculty of Medicine, Yeditepe University, Istanbul, Turkey.
Cancer Control. 2024 Jan-Dec;31:10732748241270597. doi: 10.1177/10732748241270597.
Ovarian cancer (OC) poses significant challenges due to its high mortality rate, particularly in advanced stages where symptoms may not be evident. DNA repair mechanisms, including nucleotide excision repair (NER), are crucial in maintaining genomic stability and preventing cancer. This study focuses on exploring the role of two NER-related genes, Xeroderma Pigmentosum Complementation Group C (XPC) and DNA Damage Binding Protein 2 (DDB2), in OC susceptibility.
This study aims to investigate the association between variations in two NER-related genes, XPC rs2228001 and DDB2 rs830083, among a cohort of Turkish individuals with OC and control subjects.
Genotyping of XPC rs2228001 and DDB2 rs830083 was performed on 103 OC patients and 104 control subjects from the Turkish population using the Fast Real-Time 7500 PCR platform from Applied Biosystems.
Individuals with the homozygous AA genotype of XPC rs2228001 exhibited a reduced likelihood of developing OC (OR 0.511; 95% CI 0.261 - 1.003; 0.049), whereas those with the CC variant faced an elevated risk (OR = 2.32, 95% CI = 1.75-3.08; 0.035). The presence of the A allele was associated with decreased OC occurrence ( = 0.035). Similarly, for DDB2 rs830083, individuals with the homozygous CG genotype had a diminished risk of OC ( 0.036), compared to those with the GG polymorphism (OR 1.895; 95% CI 1.033 - 3.476; 0.038). Furthermore, the presence of the C allele was associated with a 1.89-fold decrease in the likelihood of OC.
These findings shed light on the genetic factors influencing OC susceptibility, emphasizing the importance of DNA repair systems in disease. Further research in larger and more diverse populations is warranted to validate these findings, facilitating precise risk assessment, and potentially guiding tailored treatment strategies for OC patients.
卵巢癌（OC）死亡率高，治疗难度大，尤其是在晚期，症状可能不明显。核苷酸切除修复（NER）等 DNA 修复机制对维持基因组稳定性和预防癌症至关重要。本研究旨在探讨两个 NER 相关基因 XPC 和 DDB2 在 OC 易感性中的作用。
本研究旨在探讨 XPC 基因 rs2228001 和 DDB2 基因 rs830083 多态性与土耳其 OC 患者和对照组之间的关系。
采用应用生物系统公司的 Fast Real-Time 7500 PCR 平台，对 103 例土耳其 OC 患者和 104 例对照组进行 XPC rs2228001 和 DDB2 rs830083 的基因分型。
XPC rs2228001 纯合 AA 基因型个体发生 OC 的风险降低（OR 0.511；95%CI 0.261-1.003；P=0.049），CC 变异型个体发生 OC 的风险增加（OR=2.32，95%CI=1.75-3.08；P=0.035）。A 等位基因的存在与 OC 发生率降低相关（P=0.035）。同样，对于 DDB2 rs830083，CG 纯合基因型个体发生 OC 的风险降低（P=0.036），与 GG 多态性相比（OR 1.895；95%CI 1.033-3.476；P=0.038）。此外，C 等位基因的存在与 OC 发生的可能性降低 1.89 倍相关。
这些发现揭示了影响 OC 易感性的遗传因素，强调了 DNA 修复系统在疾病中的重要性。需要在更大、更多样化的人群中进行进一步研究，以验证这些发现，从而促进对 OC 患者的精确风险评估，并可能指导针对 OC 患者的个体化治疗策略。
