Romanowicz-Makowska Hanna, Samulak Dariusz, Michalska Magdalena, Sporny Stanisław, Langner Ewa, Dziki Adam, Sychowski Radosław, Smolarz Beata
Department of Pathology, Institute of Polish Mother's Memorial Hospital, Lodz, Poland.
Pol J Pathol. 2012 Nov;63(3):193-8. doi: 10.5114/pjp.2012.31505.
DNA repair processes play an important role in protection against carcinogenic factors. Mutations in DNA repair genes, which code proteins engaged in repair processes, may lead to carcinogenesis and among others also to colorectal cancer (CRC) development. The genetic variability in RAD51 may contribute to the appearance and progression of various cancers including CRC. The aim of the study was to compare the distribution of genotypes of RAD51 135G>C and 172G>T polymorphism between colorectal cancer patients and controls.
Both polymorphisms were evaluated by PCR-RFLP methods in colorectal tissue of 320 colorectal cancer subjects and 320 healthy subjects who served as controls.
In the present work we demonstrated a significant positive association between the RAD51 C/C genotype and colorectal carcinoma. Variant 135C allele of RAD51 increased the cancer risk. However, we did not observe any relationship between each polymorphism and colorectal cancer progression assessed by node metastasis, tumour size and Dukes' stage.
Our results suggest that variant genotypes of the 135G>C of RAD51 polymorphism may be positively associated with colorectal carcinoma in the Polish population. Further studies conducted on a larger group are required to clarify this point.
DNA修复过程在抵御致癌因素方面发挥着重要作用。编码参与修复过程蛋白质的DNA修复基因发生突变，可能导致癌症发生，其中也包括结直肠癌（CRC）的发展。RAD51基因的遗传变异性可能促使包括CRC在内的各种癌症的出现和进展。本研究的目的是比较结直肠癌患者与对照组之间RAD51 135G>C和172G>T多态性的基因型分布。
采用PCR-RFLP方法对320例结直肠癌患者的结直肠组织以及作为对照的320例健康受试者进行了这两种多态性的评估。
在本研究中，我们证明了RAD51 C/C基因型与结直肠癌之间存在显著的正相关。RAD51的135C变异等位基因增加了患癌风险。然而，我们未观察到任何一种多态性与通过淋巴结转移、肿瘤大小和杜克分期评估的结直肠癌进展之间存在关联。
我们的结果表明，RAD51多态性135G>C的变异基因型可能与波兰人群中的结直肠癌呈正相关。需要对更大规模的人群进行进一步研究以阐明这一点。
