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Abstract：
Mutations and inactivation of the TP53 gene are frequently observed in various types of malignancies. Precise knowledge of the genetic structure and detection of mutation hotspots are crucial, as these indicate a high probability of developing cancer. The aim of our study was to perform the bioinformatic detection of mutation hotspots in the TP53 gene in patients diagnosed with malignant colon neoplasms using self-developed software (version 1). We compared TP53 gene sequences from 50 healthy individuals with those from 50 patients diagnosed with colorectal carcinoma. Of the 50 samples from cancer patients, the most frequent mutations were observed in exons 5 and 8 (12 mutations per exon) and gene sequences of 12 samples, which differed from those of the 50 samples from healthy individuals. Based on our results, the distribution of mutations in the TP53 gene structure was not even across different exons. By comparing the gene sequences of healthy individuals with those of colon cancer samples, we conclude that structural changes occurring in similar gene regions are not associated with increases in susceptibility to malignancies in every case, namely, that the pathological mechanism is multifactorial.
摘要：
在各种类型的恶性肿瘤中经常观察到TP53基因的突变和失活。准确了解基因结构和检测突变热点至关重要,因为这些表明患癌症的可能性很高。我们研究的目的是使用自行开发的软件（版本1）对诊断为恶性结肠肿瘤的患者进行TP53基因突变热点的生物信息学检测。我们比较了50名健康个体与50名诊断为结直肠癌患者的TP53基因序列。在癌症患者的50份样本中，在外显子5和8（每个外显子12个突变）和12个样本的基因序列中观察到最常见的突变，与健康个体的50个样本不同。根据我们的结果,TP53基因结构中的突变分布甚至没有跨不同的外显子。通过比较健康人和结肠癌样本的基因序列，我们得出的结论是，在每种情况下，相似基因区域发生的结构变化与恶性肿瘤易感性的增加无关。即,病理机制是多因素的。
