Characteristics and prevalence of KRAS, BRAF, and PIK3CA mutations in colorectal cancer by high-resolution melting analysis in Taiwanese population
Characteristics and prevalence of KRAS, BRAF, and PIK3CA mutations in colorectal cancer by high-resolution melting analysis in Taiwanese population
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DOI：
10.1016/j.cca.2012.04.029
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发表时间：
2012-10-09
影响因子：
5
通讯作者：
Liu, Ta-Chih
中科院分区：
文献类型：
--
作者：
Hsieh, Li-Ling;Er, Tze-Kiong;Liu, Ta-Chih
背景：结直肠癌抗表皮生长因子受体治疗前鉴定 KRAS、BRAF 和 PIK3CA 突变已变得非常重要。本研究的目的是调查台湾结直肠癌人群中 KRAS、BRAF 和 PIK3CA 突变的发生情况。本研究旨在通过高分辨率熔解 (HRM) 分析来识别结直肠癌患者的 BRAF 和 PIK3CA 突变。 HRM分析是一种新型基因扫描工具，可快速执行PCR并识别序列改变，无需PCR后处理方法：在本研究中，从182例福尔马林固定石蜡包埋（FFPE）结直肠癌样本中提取DNA，通过直接测序进行临床KRAS突变分析。所有样本还通过HRM分析测试了BRAF V600E和PIK3CA（外显子9和20）内的突变。结果：结果通过直接测序得到证实。 BRAF 和 PIK3CA 突变的频率分别为 1.1% 和 7.1%。有趣的是，我们发现 9 名携带 KRAS 突变的患者（4.9%）与 PIK3CA 突变共存。 4 名没有 KRAS 突变的患者 (22%) 存在 PIK3CA 突变。两名没有 KRAS 突变的患者 (1.1%) 存在 BRAF 突变。结论：在当前的研究中，我们认为 HRM 分析是快速、可行且强大的诊断工具，用于在临床环境中检测 BRAF 和 PIK3CA 突变。此外，我们的结果表明 KRAS 的流行。台湾人群中的 BRAF 和 PIK3C4 突变状态。 (C) 2012 Elsevier B.V. 保留所有权利。
Background: The identification of KRAS, BRAF, and PIK3CA mutations before the administration of anti-epidermal growth factor receptor therapy of colorectal cancer has become important The aim of the present study was to investigate the occurrence of KRAS, BRAF, and PIK3CA mutations in the Taiwanese population with colorectal cancer. This study was undertaken to identify BRAF and PIK3CA mutations in patients with colorectal cancer by high-resolution melting (HRM) analysis. HRM analysis is a new gene scan tool that quickly performs the PCR and identifies sequence alterations without requiring post-PCR treatmentMethods: In the present study, DNAs were extracted from 182 cases of formalin-fixed, paraffin-embedded (FFPE) colorectal cancer samples for clinical KRAS mutational analysis by direct sequencing. All the samples were also tested for mutations within BRAF V600E and PIK3CA (exons 9 and 20) by HRM analysis.Results: The results were confirmed by direct sequencing. The frequency of BRAF and PIK3CA mutations is 1.1%, and 7.1%, respectively. Intriguingly, we found that nine patients (4.9%) with the KRAS mutation were coexistent with the PIK3CA mutation. Four patients (22%) without the KRAS mutation were existent with the PIK3CA mutation. Two patients (1.1%) without the KRAS mutation were existent with the BRAF mutation.Conclusions: In the current study, we suppose that HRM analysis is rapid, feasible, and powerful diagnostic tool for the detection of BRAF and PIK3CA mutations in a clinical setting. Additionally, our results indicated the prevalence of KRAS. BRAF, and PIK3C4 mutational status in the Taiwanese population. (C) 2012 Elsevier B.V. All rights reserved.