Smolarz Beata, Zadrożny Marek, Duda-Szymańska Joanna, Makowska Marianna, Samulak Dariusz, Michalska Magdalena M, Mojs Ewa, Bryś Magdalena, Forma Ewa, Romanowicz-Makowska Hanna
Laboratory of Molecular Genetics, Department of Pathology, Institute of Polish Mother's Memorial Hospital, Lodz, Poland.
Pol J Pathol. 2013 Apr;64(1):39-43. doi: 10.5114/pjp.2013.34602.
The most lethal damage for the cell among all damage is double-strand breaks (DSB) of DNA. DSB cause development of cancer diseases including the triple-negative molecular subtype of breast cancer. The aim of this work was to evaluate the single nucleotide polymorphism -135G>C (rs1801320) of the RAD51 gene encoding DNA repair proteins by homologous recombination (HR) in triple-negative breast cancer (TNBC). We assessed the RAD51 -135G>C polymorphism in 50 women with triple-negative breast cancer and in 50 women from the control group. RAD51 polymorphism was analysed by the PCR-RFLP (restriction fragment length polymorphism) technique. Our results demonstrated a significant positive association between the RAD51 C/C genotype and TNBC, with an adjusted odds ratio (OR) of 5.95 (p = 0.002). The homozygous C/C genotype was found in 68% of breast cancer cases and 20% of controls. The variant 135C allele of RAD51 increased TNBC risk. This is the first study linking single nucleotide polymorphisms of the RAD51 gene with TNBC incidence in the population of Polish women. In conclusion, RAD51 polymorphisms may be regarded as predictive factors of triple-negative breast cancer in the female population. Large studies are needed to confirm our findings.
在所有细胞损伤中，最具致死性的损伤是DNA双链断裂（DSB）。DSB会引发包括乳腺癌三阴性分子亚型在内的癌症疾病。这项研究的目的是通过同源重组（HR）评估编码DNA修复蛋白的RAD51基因的单核苷酸多态性-135G>C（rs1801320）与三阴性乳腺癌（TNBC）的关系。我们评估了50例三阴性乳腺癌女性患者以及50例对照组女性的RAD51 -135G>C多态性。采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）技术分析RAD51多态性。我们的结果显示，RAD51基因C/C基因型与TNBC之间存在显著正相关，校正比值比（OR）为5.95（p = 0.002）。在68%的乳腺癌病例和20%的对照组中发现了纯合C/C基因型。RAD51基因的135C等位基因变异增加了TNBC风险。这是第一项将RAD51基因单核苷酸多态性与波兰女性人群中TNBC发病率联系起来的研究。总之，RAD51多态性可被视为女性人群中三阴性乳腺癌的预测因素。需要开展大规模研究来证实我们的发现。
