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波兰人群中RAD51基因5'非翻译区多态性与子宫内膜癌风险的关联

Association of polymorphisms in the 5' untranslated region of RAD51 gene with risk of endometrial cancer in the Polish population.

作者信息

Michalska Magdalena M, Samulak Dariusz, Romanowicz Hanna, Smolarz Beata

机构信息

Department of Obstetrics and Gynaecology, Regional Hospital in Kalisz, Kalisz, Poland.

出版信息

Arch Gynecol Obstet. 2014 Nov;290(5):985-91. doi: 10.1007/s00404-014-3305-6. Epub 2014 Jun 15.

Abstract

PURPOSE

Many of the studies have analyzed cell repair capabilities, following cancer development. The cellular reaction to DNA damaging agents can modulate the susceptibility to various tumors. This reaction is mainly determined by DNA repair efficacy which, in turn, may be influenced by the variability of DNA repair genes, expressed by their polymorphisms.

METHODS

This report describes studies of the distribution of genotypes and the frequency of alleles of the G135C (rs1801320) and G172T (rs1801321) RAD51 polymorphism in 630 paraffin-embedded samples of tumor tissue from patients with endometrial cancer. DNA from 630 normal endometrial tissues served as control. RAD51 polymorphisms were determined by PCR-RFLP.

RESULTS

In the present work, a relationship was identified between RAD51 G135C polymorphism and the incidence of endometrial cancer. Endometrial cancer patients had an overrepresentation of 135C allele. The 135C/C homozygous variant increased cancer risk. A tendency towards a decreased risk of endometrial cancer was observed with the occurrence of combined G135C-G172G genotype of RAD51 polymorphism. An association was confirmed between RAD51 G135C and G172T polymorphisms and endometrial cancer progression, assessed by the histological grades.

CONCLUSIONS

The results support the hypothesis that RAD51 G135C and G172T polymorphisms may be associated with endometrial cancer occurrence and/or progression.

摘要

目的

许多研究分析了癌症发生后细胞的修复能力。细胞对DNA损伤剂的反应可调节对各种肿瘤的易感性。这种反应主要由DNA修复效率决定,而DNA修复效率又可能受DNA修复基因多态性所表达的变异性影响。

方法

本报告描述了对630例子宫内膜癌患者肿瘤组织石蜡包埋样本中G135C(rs1801320)和G172T(rs1801321)RAD51基因多态性的基因型分布和等位基因频率的研究。来自630例正常子宫内膜组织的DNA作为对照。通过PCR-RFLP确定RAD51基因多态性。

结果

在本研究中,确定了RAD51 G135C基因多态性与子宫内膜癌发病率之间的关系。子宫内膜癌患者中135C等位基因的比例过高。135C/C纯合变异增加了癌症风险。观察到RAD51基因多态性的G135C-G172G联合基因型出现时,子宫内膜癌风险有降低趋势。通过组织学分级评估证实RAD51 G135C和G172T基因多态性与子宫内膜癌进展之间存在关联。

结论

结果支持以下假设,即RAD51 G135C和G172T基因多态性可能与子宫内膜癌的发生和/或进展有关。

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