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The Proto-Oncogene KRAS and BRAF Profiles and Some Clinical Characteristics in Colorectal Cancer in the Turkish Population

机译:土耳其人群大肠癌的原癌基因KRAS和BRAF谱及一些临床特征

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摘要

Objectives: The aim of the current study was to investigate the prevalence and predictive significance of the KRAS and BRAF mutations in Turkish patients with colorectal cancer (CRC). Methods: Totally, 53 fresh tumoral tissue specimens were investigated in patients with CRC. All specimens were obtained during routine surgery of patients who were histopathologically diagnosed and genotyped for common KRAS and BRAF point mutations. After DNA extraction, the target mutations were analyzed using the AutoGenomics INFINITI assay, and some samples were confirmed by quantitative real-time polymerase chain reaction fluorescence melting curve analyses. Results: KRAS mutations were found in 26 (49.05%) CRC samples. Twenty-seven samples (50.95%) had wild-type profiles for KRAS codon 12, 13, and 61 in the current cohort. In 17 (65.38%) samples, codon 12; in 7 (26.93%) samples, codon 13; and in 2 (7.69%) samples, codon 61 were found to be mutated, particularly in grade 2 of tumoral tissues. No point mutation was detected in BRAF codon Val600Glu for the studied CRC patients. Conclusions: Our study, based on a representative collection of human CRC tumors, indicates that KRAS gene mutations were detected in 49.05% of the samples, and the most frequent mutation was in the G12D codon. Results also showed that codons 12 and 13 of KRAS are relatively frequently without BRAF mutation in a CRC cohort from the Turkish population.
机译:目的:本研究的目的是调查土耳其结直肠癌(CRC)患者中KRAS和BRAF突变的患病率和预测意义。方法:共检查了53例CRC患者的新鲜肿瘤组织标本。所有标本均在组织病理学诊断且具有常见KRAS和BRAF点突变基因型的患者的常规手术中获得。 DNA提取后,使用AutoGenomics INFINITI分析法分析目标突变,并通过定量实时聚合酶链反应荧光熔解曲线分析确认了一些样品。结果:在26个(49.05%)CRC样本中发现了KRAS突变。在当前队列中,有27个样本(50.95%)的KRAS密码子12、13和61具有野生型特征。在17个样本中(65.38%),密码子为12;在7个样本中(26.93%),密码子13;在2个样本(7.69%)中,发现61号密码子发生了突变,特别是在2级肿瘤组织中。对于研究的CRC患者,BRAF密码子Val600Glu中未检测到点突变。结论:我们的研究基于代表性的人类CRC肿瘤集合,表明在49.05%的样本中检测到KRAS基因突变,最常见的突变是G12D密码子。结果还显示,在土耳其人群的CRC队列中,KRAS的12和13号密码子相对较频繁而没有BRAF突变。

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  • 来源
    《Genetic testing and molecular biomarkers》 |2013年第2期|135-139|共5页
  • 作者单位

    Department of Medical Genetics Medeniyet University Goztepe Training and Research Hospital Istanbul 34000 Turkey;

    Department of Nuclear Medicine, Faculty of Medicine, Canakkale Qnsekiz Mart University, Canakkale, Turkey;

    Department of Pathology, Medeniyet University Goztepe Training and Research Hospital, Istanbul, Turkey;

    Department of Medical Genetics, Medeniyet University Goztepe Training and Research Hospital, Istanbul, Turkey;

    Department of Medical Genetics, Faculty of Medicine, Canakkale Onsekiz Mart University, Canakkale, Turkey;

    Department of Medical Genetics, Faculty of Medicine, Canakkale Onsekiz Mart University, Canakkale, Turkey Department of Medical Genetics, Faculty of Medicine, Cumhuriyet University, Sivas, Turkey;

  • 收录信息 美国《科学引文索引》(SCI);美国《化学文摘》(CA);
  • 原文格式 PDF
  • 正文语种 eng
  • 中图分类
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  • 入库时间 2022-08-17 13:17:38

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