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首页> 外文期刊>Pathobiology: journal of immunopathology, molecular and cellular biology >Association of p53 Codon 72 Polymorphism with Breast Cancer in a Rwandese Population
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Association of p53 Codon 72 Polymorphism with Breast Cancer in a Rwandese Population

机译：P53密码子72多态性与抗乳腺癌在卢旺达人群中的关联

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Background and Aims: 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. Methods: In this study, the polymorphism was examined by allele-specific PCR analysis in 40 patients with breast cancer and 39 healthy controls. Results: 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. Conclusion: 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. (C) 2017 S. Karger AG, Basel
机译：背景和目的：在密码子72处的肿瘤抑制基因P53中的常见多态性已经提出在许多癌症的发展中起作用。在全球范围内的许多人口中已经研究了这种多态性，结果相互矛盾。本研究计划评估p53密码子72多态性与rwandese人口中乳腺癌发育的关联。方法：在这项研究中，40例乳腺癌和39例健康对照中的等位基因特异性PCR分析检查了多态性。结果：在乳腺癌患者和对照中普遍存在的杂合子基因型PRO / ARG，分别存在80％（32/40）和92.3％（36/39）的病例。在p53密码子72多态性和乳腺癌风险之间没有观察到统计学上显着的关联。根据家族历史，肿瘤等级和临床阶段，还研究了P53基因型的分布，结果清楚地显示出没有统计学上的差异。结论：这些结果表明，P53密码子72多态性不能被评估为卢旺达乳腺癌易感性的危险因素标志物。然而，需要使用较大样本尺寸的进一步研究来提供更多的确凿结果，并研究影响P53活性的其他遗传突变。 （c）2017年S. Karger AG，巴塞尔

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