In 2022, approximately 1.4 million new cases of gynecological cancers were diagnosed worldwide, accounting for a significant share of all female cancer cases, according to the World Cancer Research Fund. DNA repair mechanisms play a critical role in maintaining genomic integrity, and their dysfunction can lead to the accumulation of DNA damage, thereby increasing the risk of gynecological cancer development. Single nucleotide polymorphisms (SNPs) in genes involved in DNA repair pathways, such as Base Excision Repair (BER) and Nucleotide Excision Repair (NER), represent important biomarkers for gynecological malignancies. These polymorphisms can affect the efficiency of DNA repair processes, thereby influencing individual susceptibility to cancer. SNPs within the BER and NER pathways exhibit high specificity, enabling accurate detection and monitoring of gynecological cancers, as well as the identification of individuals at elevated risk. This facilitates early risk assessment and supports the implementation of preventive strategies. Compared to traditional biomarkers such as CA-125, SNPs allow for the detection of genomic alterations at an earlier, preclinical stage. Furthermore, the characterization of SNPs in BER and NER pathways may serve as a foundation for personalized therapy, allowing treatment to be tailored to the patient’s specific genetic mutations. To identify polymorphisms in the BER and NER pathways associated with gynecological cancer risk, a systematic analysis of 128 scientific articles was conducted, which may serve as a solid foundation for advancing precision oncology and improving the early diagnosis of gynecological cancers.
根据世界癌症研究基金会的数据，2022年全球约有140万新发妇科癌症病例，占所有女性癌症病例的相当大比例。DNA修复机制在维持基因组完整性方面起着关键作用，其功能失调可导致DNA损伤累积，从而增加妇科癌症发生风险。参与DNA修复途径（如碱基切除修复和核苷酸切除修复）的基因中的单核苷酸多态性，是妇科恶性肿瘤的重要生物标志物。这些多态性可影响DNA修复过程的效率，进而影响个体对癌症的易感性。BER和NER通路中的SNPs具有高度特异性，能够实现对妇科癌症的精准检测与监测，并识别高风险个体。这有助于早期风险评估，并为实施预防策略提供支持。与传统生物标志物（如CA-125）相比，SNPs能在更早期的临床前阶段检测基因组改变。此外，对BER和NER通路中SNPs的特征分析可为个体化治疗奠定基础，使治疗能够针对患者特定的基因突变进行定制。为识别与妇科癌症风险相关的BER和NER通路多态性，本研究系统分析了128篇科学文献，这或将为推进精准肿瘤学和改善妇科癌症早期诊断提供坚实基础。
肿瘤(癌症)患者之家