台湾结直肠癌患者的RAS、BRAF及TP53基因突变。

IF 0.3 4区 医学 Q4 Medicine Onkologie Pub Date : 2013-01-01 Epub Date: 2013-11-20 DOI:10.1159/000356814
Ya-Sian Chang, Shun-Jen Chang, Kun-Tu Yeh, Tsai-Hsiu Lin, Jan-Gowth Chang
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引用次数: 14

摘要

背景:结直肠癌(CRC)在癌症死亡率和发病率中起着重要作用。本研究检测了结直肠组织中RAS、BRAF和TP53基因突变,以评估其作为结直肠癌治疗结果指标的价值。材料和方法:从165例结直肠癌患者的组织中提取DNA。引物延伸分析检测到RAS基因突变(外显子2和3)。采用高分辨率熔融分析(HRM)检测BRAF基因突变(V600E)。直接测序检测TP53基因突变(外显子5-8)。结果:RAS、BRAF和TP53突变发生率分别为36.97%(61/165)、4.24%(7/165)和37.58%(62/165)。KRAS突变是5年生存率差的预测因子(p = 0.05), KRAS和TP53突变的共同存在与淋巴结累及(p = 0.029)、肿瘤分期(p = 0.029)和生存率差(p = 0.021)相关。校正肿瘤大小、组织学分级、淋巴结转移、性别和年龄的多变量分析也表明,KRAS突变与总生存率显著相关(p = 0.036)。结论:KRAS突变在约1 / 3的结直肠癌患者中不存在,因此需要进一步研究其他基因突变以更好地了解结直肠癌的分子机制和治疗方法。
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RAS, BRAF, and TP53 gene mutations in Taiwanese colorectal cancer patients.

Background: Colorectal cancer (CRC) plays an important role in cancer mortality and morbidity. This study examined colorectal tissues for RAS, BRAF, and TP53 gene mutations to assess their value as indicators of outcomes of CRC therapy.

Material and methods: DNA was extracted from tissues taken from 165 patients with CRC. RAS gene mutations (exons 2 and 3) were detected by primer extension analysis. BRAF gene mutations (V600E) were detected by high resolution melting (HRM) analysis. TP53 gene mutations (exons 5-8) were detected by direct sequencing.

Results: RAS, BRAF, and TP53 mutations occurred in 36.97% (61/165), 4.24% (7/165), and 37.58% (62/165), respectively. The KRAS mutation is a predictor for poor 5-year survival (p = 0.05), and the co-presence of KRAS and TP53 mutations correlates with lymph node involvement (p = 0.029), tumor stage (p = 0.029), and poor survival (p = 0.021). Multivariate analysis adjusted for tumor size, histologic grade, lymph node metastasis, sex, and age also indicated that KRAS mutations correlate significantly with overall survival (p = 0.036).

Conclusion: The KRAS mutation is not present in about one-third of CRC patients, and therefore other gene mutations need to be investigated to better understand the molecular mechanisms of CRC and its treatment.

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来源期刊
Onkologie
Onkologie 医学-肿瘤学
CiteScore
0.40
自引率
33.30%
发文量
0
审稿时长
3 months
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