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<p>Impaired DNA repair is a major driver for carcinogenesis and could promote aggressive cancer biology. Mammalian cells have evolved highly conserved DNA repair machinery to process DNA damage and maintain genomic integrity. Until now, multiple genetic polymorphisms in DNA repair-related genes have been extensively examined for their contribution to breast cancer (BC) risk, including <i>BRCA1</i> gene rs799917, <i>RAD51</i> gene rs1801321 and rs1801320, <i>XRCC3</i> gene rs861539, <i>XPC</i> gene rs2228001, <i>ERCC1</i> gene rs3212986, and <i>XRCC1</i> gene rs25487. However, these studies have yielded conflicting results. To resolve the discrepancies and provide a more precise estimation of the association between these genetic polymorphisms and BC risk, a comprehensive meta-analysis including 96 studies was carried out. The statistical results indicated that rs1801320 in the Caucasian population, rs3212986 in the total population, and rs25487 in the Asian population were significantly associated with BC risk after Bonferroni correction. Collectively, our findings suggested that <i>RAD51</i> gene rs1801320, <i>ERCC1</i> gene rs3212986, and <i>XRCC1</i> gene rs25487 may serve as the susceptible loci in BC pathogenesis, which are warranted to be confirmed and reinforced in future studies.</p>

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Association Between Seven Selected Genetic Polymorphisms in DNA Repair-Related Genes and Breast Cancer Risk: Evidence from a Comprehensive Meta-analysis Including 96 Studies

  • 期刊论文

  • 发表日期：

    2025年6月30日

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  • Jiangyi Ruan,
  • Hang Zhou,
  • Zhengyu E,
  • Yuping Chu,
  • Shujing Zhang,
  • Jiaxi Liao,
  • Weiguang Zhou,
  • Bifeng Chen

摘要

Impaired DNA repair is a major driver for carcinogenesis and could promote aggressive cancer biology. Mammalian cells have evolved highly conserved DNA repair machinery to process DNA damage and maintain genomic integrity. Until now, multiple genetic polymorphisms in DNA repair-related genes have been extensively examined for their contribution to breast cancer (BC) risk, including BRCA1 gene rs799917, RAD51 gene rs1801321 and rs1801320, XRCC3 gene rs861539, XPC gene rs2228001, ERCC1 gene rs3212986, and XRCC1 gene rs25487. However, these studies have yielded conflicting results. To resolve the discrepancies and provide a more precise estimation of the association between these genetic polymorphisms and BC risk, a comprehensive meta-analysis including 96 studies was carried out. The statistical results indicated that rs1801320 in the Caucasian population, rs3212986 in the total population, and rs25487 in the Asian population were significantly associated with BC risk after Bonferroni correction. Collectively, our findings suggested that RAD51 gene rs1801320, ERCC1 gene rs3212986, and XRCC1 gene rs25487 may serve as the susceptible loci in BC pathogenesis, which are warranted to be confirmed and reinforced in future studies.