Hrstka Roman, Beranek Michal, Klocova Katerina, Nenutil Rudolf, Vojtesek Borivoj
Department of Oncological and Experimental Pathology, Masaryk Memorial Cancer Institute, 656 53 Brno, Czech Republic.
Oncol Rep. 2009 Nov;22(5):1205-11. doi: 10.3892/or_00000556.
Recent studies have suggested that genetic polymorphisms in the TP53 pathway influence tumour formation, progression and response to therapy. We analysed the three most common TP53 gene polymorphisms as potential genetic markers to predict the development and prognosis of breast cancer. The incidence of R72P, PIN3 Ins 16bp and PIN6 G13494A polymorphisms was determined in a cohort of 117 breast cancer tissues and 108 control specimens by PCR-RFLP. No significant difference was observed in the polymorphism variants in breast cancer specimens compared to controls. Furthermore, no statistically significant association of these polymorphisms with the outcome of the patients was observed. On the other hand we found positive correlation of lymph node metastases with both PIN3 Ins 16bp and PIN6 G13494A polymorphisms. The association of intronic TP53 variants with an aggressive breast cancer phenotype may represent a useful predictive biomarker, particularly in patients of clinical stage I with low or intermediate risk.
近期研究表明，TP53通路中的基因多态性会影响肿瘤的形成、进展及对治疗的反应。我们分析了三种最常见的TP53基因多态性，将其作为预测乳腺癌发生发展及预后的潜在遗传标志物。通过聚合酶链反应-限制性片段长度多态性分析（PCR-RFLP），在117例乳腺癌组织和108例对照样本中测定了R72P、PIN3插入16bp和PIN6 G13494A多态性的发生率。与对照组相比，乳腺癌样本中的多态性变体未观察到显著差异。此外，未观察到这些多态性与患者预后之间存在统计学上的显著关联。另一方面，我们发现PIN3插入16bp和PIN6 G13494A多态性均与淋巴结转移呈正相关。内含子TP53变体与侵袭性乳腺癌表型的关联可能是一种有用的预测生物标志物，尤其对于临床I期低风险或中风险患者。
