Association of RAD51 , XRCC1 , XRCC2 , and XRCC3 Polymorphisms with Risk of Breast Cancer

• Published in: Genetic testing and molecular biomarkers Vol. 27; no. 7; p. 205
• Main Authors: Gupta, Priyanka, Sambyal, Vasudha, Guleria, Kamlesh, Uppal, Manjit Singh, Sudan, Meena
• Format: Journal Article
• Language: English
• Published: United States 01.07.2023
• Subjects: Alleles; Breast Neoplasms - genetics; Case-Control Studies; DNA-Binding Proteins - genetics; Female; Genotype; Humans; Polymorphism, Single Nucleotide; Rad51 Recombinase - genetics; X-ray Repair Cross Complementing Protein 1 - genetics; XRCC1; breast cancer; polymorphism; RAD51; XRCC2; XRCC3
• ISSN: 1945-0257
• DOI: 10.1089/gtmb.2023.0012

DNA repair genes are among the low-penetrance genes implicated in breast cancer. However variants of DNA repair genes may alter their protein function thus leading to carcinogenesis. Breast cancer is the most common cancer among women in India. The aim of the present study was to identify association, if any, of single nucleotide polymorphisms (SNP's) in four genes involved in DNA repair pathways including, rs1801320, rs25487, rs3218536, and rs861539 with the risk of breast cancer. In this case-control study 611 female subjects (311 breast cancer patients and 300 healthy controls) were screened for four SNPs using polymerase chain reaction-restriction fragment length polymorphism analyses. Multifactor dimensionality reduction (MDR) analysis was performed to estimate the gene-gene interaction. Protein-protein interaction network analysis were studied using the STRING database. The GC genotype (  = 0.018) and the combined GC+CC (  = 0.03) genotypes of rs1801320 were significantly associated with reduced risk of breast cancer. The CT genotype (  = 0.0001), the combined CT+TT genotypes (  = 0.0002), and the T allele (  = 0.0019) of rs861539 polymorphism were associated with reduced risk of the breast cancer. No association of rs25487 and rs3218536 polymorphisms with breast cancer was observed. MDR analysis indicated a positive interaction between and . String network analysis showed that the RAD51, XRCC1, XRCC2, and XRCC3 proteins are in strong interaction with each other and other breast cancer-related proteins such as BRCA2. rs1801320 and rs861539 polymorphisms were associated with reduced risk of breast cancer. There is evidence of positive interactions among , , , and .