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

IF 2.1 4区生物学 Q4 BIOCHEMISTRY & MOLECULAR BIOLOGY

Biochemical Genetics Pub Date : 2025-06-30 DOI:10.1007/s10528-025-11181-5

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

{"title":"Association Between Seven Selected Genetic Polymorphisms in DNA Repair-Related Genes and Breast Cancer Risk: Evidence from a Comprehensive Meta-analysis Including 96 Studies.","authors":"Jiangyi Ruan, Hang Zhou, Zhengyu E, Yuping Chu, Shujing Zhang, Jiaxi Liao, Weiguang Zhou, Bifeng Chen","doi":"10.1007/s10528-025-11181-5","DOIUrl":null,"url":null,"abstract":"<p><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 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.</p>","PeriodicalId":482,"journal":{"name":"Biochemical Genetics","volume":" ","pages":""},"PeriodicalIF":2.1000,"publicationDate":"2025-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Biochemical Genetics","FirstCategoryId":"99","ListUrlMain":"https://doi.org/10.1007/s10528-025-11181-5","RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"BIOCHEMISTRY & MOLECULAR BIOLOGY","Score":null,"Total":0}

引用次数: 0

Abstract

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.

查看原文本刊更多论文

DNA修复相关基因中7种特定遗传多态性与乳腺癌风险之间的关联：来自96项研究的综合meta分析证据

受损的DNA修复是致癌的主要驱动因素，并可能促进侵袭性癌症生物学。哺乳动物细胞已经进化出高度保守的DNA修复机制来处理DNA损伤并维持基因组的完整性。到目前为止，DNA修复相关基因的多种遗传多态性已被广泛研究其与乳腺癌（BC）风险的关系，包括BRCA1基因rs799917、RAD51基因rs1801321和rs1801320、XRCC3基因rs861539、XPC基因rs2228001、ERCC1基因rs3212986和XRCC1基因rs25487。然而，这些研究产生了相互矛盾的结果。为了解决这些差异并提供这些遗传多态性与BC风险之间关联的更精确估计，进行了一项包括96项研究的综合荟萃分析。统计结果显示，经Bonferroni校正后，高加索人群rs1801320、总人口rs3212986、亚洲人群rs25487与BC风险显著相关。总之，我们的研究结果提示RAD51基因rs1801320、ERCC1基因rs3212986、XRCC1基因rs25487可能是BC发病的易感位点，值得在未来的研究中进一步证实和加强。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

求助全文

约1分钟内获得全文求助全文

来源期刊

Biochemical Genetics 生物-生化与分子生物学

CiteScore

3.90

自引率

0.00%

发文量

133

审稿时长

4.8 months

期刊介绍： Biochemical Genetics welcomes original manuscripts that address and test clear scientific hypotheses, are directed to a broad scientific audience, and clearly contribute to the advancement of the field through the use of sound sampling or experimental design, reliable analytical methodologies and robust statistical analyses. Although studies focusing on particular regions and target organisms are welcome, it is not the journal’s goal to publish essentially descriptive studies that provide results with narrow applicability, or are based on very small samples or pseudoreplication. Rather, Biochemical Genetics welcomes review articles that go beyond summarizing previous publications and create added value through the systematic analysis and critique of the current state of knowledge or by conducting meta-analyses. Methodological articles are also within the scope of Biological Genetics, particularly when new laboratory techniques or computational approaches are fully described and thoroughly compared with the existing benchmark methods. Biochemical Genetics welcomes articles on the following topics: Genomics; Proteomics; Population genetics; Phylogenetics; Metagenomics; Microbial genetics; Genetics and evolution of wild and cultivated plants; Animal genetics and evolution; Human genetics and evolution; Genetic disorders; Genetic markers of diseases; Gene technology and therapy; Experimental and analytical methods; Statistical and computational methods.