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

IF 1.1 4区 生物学 Q4 GENETICS & HEREDITY Genetic testing and molecular biomarkers Pub Date : 2023-07-01 DOI:10.1089/gtmb.2023.0012
Priyanka Gupta, Vasudha Sambyal, Kamlesh Guleria, Manjit Singh Uppal, Meena Sudan
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Abstract

Background: 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, RAD51 rs1801320, XRCC1 rs25487, XRCC2 rs3218536, and XRCC3 rs861539 with the risk of breast cancer. Materials and Methods: 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. Results: The GC genotype (p = 0.018) and the combined GC+CC (p = 0.03) genotypes of RAD51 rs1801320 were significantly associated with reduced risk of breast cancer. The CT genotype (p = 0.0001), the combined CT+TT genotypes (p = 0.0002), and the T allele (p = 0.0019) of XRCC3 rs861539 polymorphism were associated with reduced risk of the breast cancer. No association of XRCC1 rs25487 and XRCC2 rs3218536 polymorphisms with breast cancer was observed. MDR analysis indicated a positive interaction between XRCC3 and XRCC2. 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. Conclusion: RAD51 rs1801320 and XRCC3 rs861539 polymorphisms were associated with reduced risk of breast cancer. There is evidence of positive interactions among XRCC1, XRCC2, XRCC3, and RAD51.

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RAD51、XRCC1、XRCC2和XRCC3多态性与乳腺癌风险的关系
背景:DNA修复基因是与乳腺癌相关的低外显子基因之一。然而,DNA修复基因的变异可能改变其蛋白质功能,从而导致致癌。乳腺癌是印度女性中最常见的癌症。本研究的目的是确定RAD51 rs1801320、XRCC1 rs25487、XRCC2 rs3218536和XRCC3 rs861539四个参与DNA修复途径的基因的单核苷酸多态性(SNP)与乳腺癌风险的关联,如果存在关联的话。材料与方法:采用聚合酶链反应-限制性片段长度多态性分析对611名女性受试者(311名乳腺癌患者和300名健康对照)进行4种snp的筛选。采用多因素降维分析(MDR)估计基因-基因相互作用。利用STRING数据库进行蛋白-蛋白互作网络分析。结果:RAD51 rs1801320的GC基因型(p = 0.018)和GC+CC联合基因型(p = 0.03)与乳腺癌风险降低显著相关。CT基因型(p = 0.0001)、CT+TT联合基因型(p = 0.0002)和XRCC3 rs861539多态性的T等位基因(p = 0.0019)与乳腺癌风险降低相关。未发现XRCC1 rs25487和XRCC2 rs3218536多态性与乳腺癌相关。MDR分析显示XRCC3和XRCC2之间存在正互作。字符串网络分析显示,RAD51、XRCC1、XRCC2和XRCC3蛋白与其他乳腺癌相关蛋白如BRCA2之间存在强相互作用。结论:RAD51 rs1801320和XRCC3 rs861539多态性与乳腺癌风险降低相关。有证据表明,XRCC1、XRCC2、XRCC3和RAD51之间存在正相互作用。
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来源期刊
CiteScore
2.50
自引率
7.10%
发文量
63
审稿时长
1 months
期刊介绍: Genetic Testing and Molecular Biomarkers is the leading peer-reviewed journal covering all aspects of human genetic testing including molecular biomarkers. The Journal provides a forum for the development of new technology; the application of testing to decision making in an increasingly varied set of clinical situations; ethical, legal, social, and economic aspects of genetic testing; and issues concerning effective genetic counseling. This is the definitive resource for researchers, clinicians, and scientists who develop, perform, and interpret genetic tests and their results. Genetic Testing and Molecular Biomarkers coverage includes: -Diagnosis across the life span- Risk assessment- Carrier detection in individuals, couples, and populations- Novel methods and new instrumentation for genetic testing- Results of molecular, biochemical, and cytogenetic testing- Genetic counseling
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