Biology and Medical Research Unit, Centre National de l'Energie, des Sciences et des Techniques Nucléaires, Rabat, Morocco.
Department of Biology, Faculty of Science, Mohammed V University, Rabat, Morocco.
Pathobiology. 2018;85(3):186-191. doi: 10.1159/000481664. Epub 2017 Nov 1.
A common polymorphism in the tumor suppressor gene p53 at codon 72 has been suggested to play a role in the development of a number of cancers. This polymorphism has been studied in many populations worldwide, with conflicting results. The present study was planned to assess the association of p53 codon 72 polymorphism with breast cancer development in a Rwandese population.
In this study, the polymorphism was examined by allele-specific PCR analysis in 40 patients with breast cancer and 39 healthy controls.
The heterozygous genotype Pro/Arg prevailed in both breast cancer patients and controls, and was present in 80% (32/40) and 92.3% (36/39) of cases, respectively. No statistically significant association was observed between p53 codon 72 polymorphism and breast cancer risk. Distribution of p53 genotypes was also studied according to familial history, tumor grade, and clinical stage, and results clearly showed no statistically significant difference.
These results suggest that p53 codon 72 polymorphism could not be assessed as a risk factor marker for predisposition to breast cancer in Rwanda. However, further studies using larger sample sizes are needed to provide more conclusive results and to investigate other genetic mutations affecting the activity of p53.
抑癌基因 p53 密码子 72 处的常见多态性被认为与多种癌症的发生有关。该多态性已在世界范围内的许多人群中进行了研究,但结果存在冲突。本研究旨在评估 p53 密码子 72 多态性与卢旺达人群乳腺癌发展的相关性。
本研究采用等位基因特异性 PCR 分析方法,检测了 40 例乳腺癌患者和 39 例健康对照者的多态性。
杂合基因型 Pro/Arg 在乳腺癌患者和对照组中均占优势,分别为 80%(32/40)和 92.3%(36/39)。p53 密码子 72 多态性与乳腺癌风险之间无统计学显著相关性。还根据家族史、肿瘤分级和临床分期研究了 p53 基因型的分布,结果显示无统计学显著差异。
这些结果表明,p53 密码子 72 多态性不能作为卢旺达乳腺癌易感性的风险因素标志物。然而,需要使用更大的样本量进行进一步研究,以提供更具结论性的结果,并研究其他影响 p53 活性的基因突变。