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首页> 外文期刊>Journal of Medical Biochemistry >Susceptibility to Breast Cancer and Intron 3 Ins/Del Genetic Polymorphism of DNA Double-Strand Break Repair Gene XRCC4
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Susceptibility to Breast Cancer and Intron 3 Ins/Del Genetic Polymorphism of DNA Double-Strand Break Repair Gene XRCC4

机译：DNA双链断裂修复基因 XRCC4 对乳腺癌的易感性和内含子3 Ins / Del遗传多态性

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Summary Background Since genetic variations in X-ray cross-complementing group 4 ( XRCC4 ; OMIM: 194363) repair gene might be associated with a reduction in cellular DNA repair capacity, it is hypothesized that XRCC4 Ins/Del (I/D) polymorphism (in intron 3 of the gene; rs28360071) may be a risk factor for breast cancer. Therefore, the present case-control study was carried out. Methods The present case-control study included 407 females with breast cancer and a total of 394 healthy females from the general population matched with patients according to age. Genotypic analysis for the XRCC4 I/D polymorphism was performed by PCR. In order to investigate the effect of XRCC4 I/D polymorphism on age at diagnosis of breast cancer, the Kaplan–Meier survival analysis and the Cox proportional hazards regression model were used. Results Based on the present case-control study, the ID (OR=0.95, 95% CI: 0.69–1.31, P=0.781) and DD (OR=1.24, 95% CI: 0.84–1.83, P=0.274) genotypes were not associated with breast cancer risk compared with the II genotype. Based on the Cox regression model, there was significant association between genotypes of I/D polymorphism and age at diagnosis of breast cancer (ID+DD vs II; HR=0.79, 95% CI: 0.64–0.98, P=0.036). Conclusion Although there was no significant association between XRCC4 I/D polymorphism and risk of breast cancer, patients having the II genotype have lower age at diagnosis in comparison with patients having ID+DD genotypes.
机译：摘要背景由于X射线交叉互补的第4组（XRCC4; OMIM：194363）修复基因的遗传变异可能与细胞DNA修复能力的降低有关，因此假设XRCC4 Ins / Del（I / D）多态性（基因内含子3（rs28360071）可能是乳腺癌的危险因素。因此，进行了本病例对照研究。方法本病例对照研究包括407名乳腺癌女性和394名来自普通人群的健康女性，并根据年龄进行了匹配。通过PCR进行XRCC4 I / D多态性的基因型分析。为了研究XRCC4 I / D多态性对乳腺癌诊断年龄的影响，使用了Kaplan-Meier生存分析和Cox比例风险回归模型。结果根据本病例对照研究，ID型（OR = 0.95，95％CI：0.69–1.31，P = 0.781）和DD（OR = 1.24，95％CI：0.84–1.83，P = 0.274）是基因型。与II基因型相比，与乳腺癌风险无关。根据Cox回归模型，I / D多态性基因型与乳腺癌诊断年龄之间存在显着相关性（ID + DD vs II; HR = 0.79，95％CI：0.64-0.98，P = 0.036）。结论尽管XRCC4 I / D多态性与乳腺癌风险之间没有显着相关性，但具有II基因型的患者与具有ID + DD基因型的患者相比，其诊断年龄较低。

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