Genetic Polymorphisms in Base Excision Repair (BER) and Nucleotide Excision Repair (NER) Pathways as Potential...

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.