Department of Plant and Animal Cytobiology, Institute of Biology Bucharest of Romanian Academy, Bucharest, Romania;
Rom J Morphol Embryol. 2020 Apr-Jun;61(2):441-447. doi: 10.47162/RJME.61.2.13.
This study was conducted in order to determine the mutational status of TP53 gene and to determine some particular aspects from ultrastructural level in invasive mammary ductal carcinoma. The cellular signaling pathway involving the TP53 gene acts in biological deoxyribonucleic acid (DNA) repair processes and cell cycle arrest following a signal transmitted to the p53 protein when posttranslational changes occur in the cell due to stress induced in the cell by both intrinsic and extrinsic factors. Cellular stress activates the transcription factor function of the protein that initiates, as the case may be, either DNA repair or programmed cell death (apoptosis). The TP53 gene is commonly mutated in many human cancers and also has a highly polymorphic grade. To determine the mutational status of the exons 4-9 of the TP53 gene, we used extracted DNA from fresh breast tissue, and we analyzed it through direct sequencing. In mammary carcinoma, the mutation frequency of TP53 is running between 20-40% and, in regards the polymorphism, at least 14 different forms were identified, that are associated with cancer risk. The mutation type distribution showed a predominance of deletions and a reduced frequency of substitutions comparing with International Agency for Research on Cancer (IARC) database. Taken in consideration the importance of the tumor associated stroma in tumor development, we have also investigated some particular aspects at the infrastructural level of invasive mammary ductal carcinoma, notably concerning telocytes as tumor stroma interstitial cells by transmission electron microscopy analysis.
本研究旨在确定 TP53 基因突变状态，并从超微结构水平确定浸润性乳腺导管癌的一些特殊方面。涉及 TP53 基因的细胞信号通路在生物脱氧核糖核酸 (DNA) 修复过程和细胞周期停滞中起作用，当细胞内固有和外在因素引起的应激导致细胞内翻译后变化时，该信号会传递到 p53 蛋白。细胞应激激活蛋白的转录因子功能，从而启动 DNA 修复或程序性细胞死亡（细胞凋亡）。TP53 基因在许多人类癌症中经常发生突变，并且具有高度多态性。为了确定 TP53 基因外显子 4-9 的突变状态，我们使用从新鲜乳腺组织中提取的 DNA，并通过直接测序对其进行分析。在乳腺癌中，TP53 的突变频率在 20-40%之间，而关于多态性，至少鉴定出了 14 种与癌症风险相关的不同形式。与国际癌症研究机构 (IARC) 数据库相比，突变类型分布显示缺失的发生率较高，取代的频率较低。考虑到肿瘤相关基质在肿瘤发展中的重要性，我们还通过透射电子显微镜分析在浸润性乳腺导管癌的基础设施水平上研究了一些特殊方面，特别是关于作为肿瘤间质细胞的间质细胞。
