Association Between Seven Selected Genetic Polymorphisms in DNA Repair-Related Genes and Breast Cancer Risk: Evidence
Jiangyi Ruan1, Hang Zhou1,2, Zhengyu E2
1Department of Biological Science and Technology, School of Chemistry, Chemical Engineering and Life Sciences, Wuhan University of Technology, Wuhan, 430070, China.
Biochemical Genetics
|June 30, 2025
Summary
Genetic variations in DNA repair genes impact cancer. This meta-analysis identified RAD51 rs1801320, ERCC1 rs3212986, and XRCC1 rs25487 as significantly associated with breast cancer risk in specific populations.
Area of Science:
- Genetics
- Oncology
- Molecular Biology
Background:
- Impaired DNA repair mechanisms are linked to carcinogenesis and aggressive cancer progression.
- Numerous genetic polymorphisms in DNA repair genes have been investigated for their association with breast cancer (BC) risk, but results are often conflicting.
- Key genes studied include BRCA1, RAD51, XRCC3, XPC, ERCC1, and XRCC1.
Purpose of the Study:
- To resolve discrepancies in previous studies by conducting a comprehensive meta-analysis.
- To provide a precise estimation of the association between specific genetic polymorphisms in DNA repair genes and breast cancer risk.
- To identify potential susceptible loci for breast cancer pathogenesis.
Main Methods:
- A comprehensive meta-analysis was performed, incorporating data from 96 individual studies.
- Statistical analyses, including Bonferroni correction, were employed to assess the significance of associations.
- Focus was placed on polymorphisms such as BRCA1 rs799917, RAD51 rs1801321 and rs1801320, XRCC3 rs861539, XPC rs2228001, ERCC1 rs3212986, and XRCC1 rs25487.
Main Results:
- The meta-analysis revealed significant associations between specific polymorphisms and breast cancer risk after Bonferroni correction.
- RAD51 gene rs1801320 was significantly associated with BC risk in the Caucasian population.
- ERCC1 gene rs3212986 was associated with BC risk in the total population, and XRCC1 gene rs25487 was associated in the Asian population.
Conclusions:
- RAD51 rs1801320, ERCC1 rs3212986, and XRCC1 rs25487 may represent susceptible loci in breast cancer pathogenesis.
- These findings contribute to a clearer understanding of the genetic underpinnings of breast cancer.
- Further studies are warranted to confirm and reinforce these identified genetic associations.
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