K-ras突变:结直肠癌、胰腺癌和肺癌分子诊断和风险评估的早期检测综述

Cancer detection and prevention Pub Date : 2000-01-01
T Minamoto, M Mai, Z Ronai
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引用次数: 0

摘要

多种基因组改变与大多数人类癌症的发展有关。它们包括致癌基因、肿瘤抑制基因、DNA错配修复和切除修复基因的改变。易感性基因检测已成为明确但罕见的遗传性癌症患者管理的一部分,其中某些易感基因突变在种系中被确定。然而,对散发性癌症的分子诊断方法仍在发展中,散发性癌症占人类恶性肿瘤的绝大多数。最具特征的肿瘤相关基因之一是K-ras,它在几种散发性人类癌症中发生体细胞突变。由于该基因的突变仅发生在三个热点(密码子12、13和61),并且在结直肠癌、胰腺癌和肺癌中经常被检测到并有很好的特征,因此针对K-ras突变的分子诊断和易感性(风险)评估正在开发中。为此,反映整个受累器官状态的样本采集方法是重要的。用于分子诊断和风险评估的临床样本分别包括粪便和灌洗液、胰腺和十二指肠液以及结肠直肠癌、胰腺癌和肺癌的痰和灌洗液。据报道,在这些样本中检测到的K-ras突变发生率在结直肠癌中为7%至80%,在胰腺癌中为25%至87%,在肺癌中为25%至48%。突变的发生率显然取决于检测突变K-ras等位基因的方法的敏感性,以及临床样本的性质和质量。菌斑杂交、斑点杂交、PCR与RFLP或SSCP联合检测、敏感PCR检测等方法均具有较高的特异性(75 ~ 100%)。分子分析在评估散发性癌症的易感性或发展风险方面显示出前景。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
K-ras mutation: early detection in molecular diagnosis and risk assessment of colorectal, pancreas, and lung cancers--a review.

Multiple genomic alterations are involved in the development of most human cancers. They include alterations in oncogenes, tumor suppressor genes, DNA mismatch repair and excision repair genes. Genetic testing for susceptibility has been a part of the management of patients with well-defined but uncommon hereditary cancers in which certain susceptible gene mutations are determined in the germ line. However, a molecular diagnostic approach to sporadic cancers, which comprise the vast majority of malignant tumors in human beings, is still under development. One of the best characterized tumor-related genes is K-ras, which somatically mutates in several types of sporadic human cancers. Since mutations of this gene occur exclusively in three hot spots (codons 12, 13 and 61), and are frequently detected and well characterized in colorectal, pancreas and lung cancers, molecular diagnosis and susceptibility (risk) assessment targeting K-ras mutations are being developed. For this purpose, sample collection methods that reflect the state of the entire affected organ are important. Clinical samples used for molecular diagnosis and risk assessment include stool and lavage fluid, pancreatic and duodenal juices, and sputum and lavage fluids for colorectal, pancreas and lung cancers, respectively. The reported incidence of K-ras mutations detected in these samples ranges from 7% to 80% for colorectal cancers, 25% to 87% for pancreatic cancers, and 25% to 48% for lung cancers. Incidence of mutations clearly depends on the sensitivity of the method for detecting the mutant K-ras allele, as well as the nature and the quality of the clinical samples. Various methods including plaque hybridization, dot blot hybridization, combined PCR and RFLP or SSCP, and sensitive PCR have been used, and they exhibited high specificity (75 to 100%) in detecting mutations. Molecular analysis is demonstrating promise in assessing susceptibility to, or risk of developing, sporadic cancers.

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