在保加利亚患有晚期和转移性结肠直肠癌的患者中KRAS突变状态
Maria Radanova1, Galya Mihaylova1, George St Stoyanov2,3
1Department of Biochemistry, Molecular Medicine and Nutrigenomics, Medical University of Varna, 9000 Varna, Bulgaria.
International journal of molecular sciences
|August 26, 2023
概括
RAS突变在结直肠癌 (CRC) 中很常见,并影响治疗. 克拉斯4外基因突变与直肠瘤有关,这表明需要在CRC患者中进行向分析.
科学领域:
- 在瘤学瘤学.
- 遗传学 是一个遗传学.
- 分子生物学分子生物学
背景情况:
- 阴性RAS变异是结直肠癌 (CRC) 抗EGFR治疗耐药性的关键预测因素.
- 了解RAS突变频率和关联对于CRC患者的治疗结果至关重要.
研究的目的:
- 在保加利亚的CRC患者中确定RAS变异的频率,特别是KRAS.
- 研究RAS突变,瘤位置和临床病理学特征之间的关联.
主要方法:
- 对236名晚期/转移性CRC患者进行前性研究.
- 从FFPE瘤组织中提取基因组DNA.
- 实时PCR用于RAS基因体质突变检测.
主要成果:
- 在48.73%的患者中检测到RAS突变;在44.92%的患者中检测到KRAS突变.
- 最常见的KRAS突变是在第2个外显子中的c.35G>T p.Gly12Val.
- KRAS exon 4突变与直肠瘤的位置有显著的关联 (OR 3.23,p=0.021).
结论:
- 克拉斯突变分析,特别是在4号外子中,对于表征CRC,特别是直肠瘤很重要.
- 在更大的队列中进行进一步的研究,重点是直肠癌,可以完善患者的随访和治疗策略.
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