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[俄罗斯患者结直肠癌和息肉中K-ras原癌基因的突变分析]

[Mutation analysis of K-ras protooncogene in colorectal adenocarcinomas and polyps in Russian patients].

作者信息

Amosenko F A, Korchagina E L, Matveeva T I, Vaganov Iu E, Vlasov S B, Poltavets N V, Veselov V V, Gar'kavtseva R F, Poliakov A V

出版信息

Genetika. 2010 May;46(5):700-8.

Abstract

To estimate diagnostic value of K-ras mutations during cancer risk group formation, they were studied in the samples of sporadic carcinomas (n = 33) and malignant (n = 13) polyps of large intestine obtained during surgery or polypectomy. Using PCR analysis, restriction analysis, SSCP analysis and automated sequencing, eight various point mutations were revealed. Six of them were located in codon 12 and two, in codon 13 of the K-ras gene. Mutation frequency in carcinomas, benign and malignant polyps was 43, 49, and 69%, respectively. In the healthy tissue of the large intestine, no changes in codons 12 and 13 in the K-ras gene were observed. Mutations in the groups of Russian patients examined partially overlapped. In patients with colorectal carcinoma the mutation frequency in the K-ras gene was not associated with disease onset age, location, and the extent of tumor differentiation while it was associated with the stage of tumor process. The maximum mutation frequency was revealed in polyps of patients over 70 years of age as well as in the adenomas of villous histology and large size ((1 cm). No correlation between the K-ras mutation frequency and the extent of polyp dysplasia was observed.

摘要

为评估K-ras突变在癌症风险分组形成过程中的诊断价值,对手术或息肉切除术中获取的散发性结肠癌样本(n = 33)和大肠恶性息肉样本(n = 13)进行了研究。通过聚合酶链反应(PCR)分析、限制性分析、单链构象多态性(SSCP)分析和自动测序,发现了8种不同的点突变。其中6种位于K-ras基因的第12密码子,2种位于第13密码子。癌组织、良性和恶性息肉中的突变频率分别为43%、49%和69%。在大肠健康组织中,未观察到K-ras基因第12和13密码子的变化。所检查的俄罗斯患者组中的突变部分重叠。在结直肠癌患者中,K-ras基因的突变频率与疾病发病年龄、部位及肿瘤分化程度无关,而与肿瘤进展阶段有关。70岁以上患者的息肉以及绒毛状组织学和大尺寸(≥1 cm)腺瘤中的突变频率最高。未观察到K-ras突变频率与息肉发育异常程度之间的相关性。

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