GENETIC POLYMORPHISMS IN RAD51, RAD52 AND RAD54 GENES OF HOMOLOGOUS RECOMBINATION REPAIR PATHWAY IN BREAST CANCER: A CASE-CONTROL STUDY FROM PUNJAB

Abstract

A case-control study was conducted on 600 subjects (300 cases and 300 controls) to understand the association of genetic polymorphisms of RAD51 (rs1801320, rs1801321, rs121917739, rs2619681), RAD52 (rs4987207, rs4987208) and RAD54 (rs2295466) genes in breast cancer patients and controls in population of Punjab. Genotyping of the selected SNPs of RAD51 and RAD52 gene was done by PCR-RFLP, whereas ARMS-PCR was used for RAD54 gene polymorphism. Our study identified significant associations between specific SNPs in the RAD51 and RAD52 genes and breast cancer risk. Notably, three RAD51 SNPs (rs1801320, rs1801321, and rs121917739) and one RAD52 SNP (rs4987208) showed significant genotype frequency differences between cases and controls. Genetic model analysis revealed that minor alleles of four RAD51 SNPs (rs1801320, rs1801321, rs121917739, and rs2619681) and two RAD52 SNPs (rs4987207 and rs4987208) were linked to increased breast cancer risk. Haplotype analysis further supported these findings, with 10 RAD51 haplotypes and two RAD52 haplotypes (G-G and T-G) significantly associated with higher breast cancer risk. Additionally, the GT + TT genotype of RAD52 rs4987207 was associated with lower odds of metastasis, while the TG + GG genotype of rs4987208 was linked to lymph node involvement and higher tumor grade.