Smolarz B, Makowska M, Samulak D, Michalska M M, Mojs E, Romanowicz H, Wilczak M
Beata Smolarz MD, PhD, Laboratory of Molecular Genetics, Department of Pathology, Institute of Polish Mother's, Memorial Hospital, Rzgowska 281/289, 93-338 Lodz, Poland, tel. +48 42 271 11 12, e-mail:
Pol J Pathol. 2013 Dec;64(4):290-5. doi: 10.5114/pjp.2013.39338.
Genetic polymorphisms in the RAD51 gene may be associated with increased cancer risk. The aim of the present study was to evaluate associations between the risk of ovarian cancer and 135G>C (rs1801320) and 172G>T (rs1801321) polymorphisms in the RAD51 gene. We analysed the distribution of genotypes and frequency of alleles of the RAD51 polymorphisms in 210 women with ovarian cancer and 210 healthy controls. Both polymorphisms were genotyped by restriction fragment length polymorphism-polymerase chain reaction (PCR-RFLP). In the present study only 135G>C polymorphism of the RAD51 gene was associated with ovarian cancer risk. The distribution of genotypes for 135G>C in ovarian cancer patients vs. controls was: 20% vs. 30% for G/G, 22% vs. 47% for G/C, and 58% vs. 23% for C/C genotype, respectively. We found evidence of an increased ovarian cancer risk in C/C homozygotes but not in heterozygotes. The 135C allele of RAD51 increased cancer risk. In the present work we demonstrated a significant positive association between the RAD51 135G>C polymorphism and ovarian carcinoma in Poland. However, this gene requires further understanding of its interaction with other genes involved in tumour development.
RAD51基因的遗传多态性可能与癌症风险增加有关。本研究的目的是评估RAD51基因中135G>C（rs1801320）和172G>T（rs1801321）多态性与卵巢癌风险之间的关联。我们分析了210例卵巢癌女性患者和210例健康对照者中RAD51多态性的基因型分布和等位基因频率。两种多态性均通过限制性片段长度多态性-聚合酶链反应（PCR-RFLP）进行基因分型。在本研究中，只有RAD51基因的135G>C多态性与卵巢癌风险相关。卵巢癌患者与对照者中135G>C的基因型分布分别为：G/G型为20%对30%，G/C型为22%对47%，C/C型为58%对23%。我们发现C/C纯合子患卵巢癌的风险增加，但杂合子未增加。RAD51的135C等位基因增加了癌症风险。在本研究中，我们证明了波兰人群中RAD51 135G>C多态性与卵巢癌之间存在显著的正相关。然而，该基因与其他参与肿瘤发生的基因之间的相互作用还需要进一步了解。
