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某地区结直肠癌患者KRAS基因及BRAF基因突变状态的检测分析
引用本文:许惠利,严俊,李静,陈跃宇,江莺,吴跃龙.某地区结直肠癌患者KRAS基因及BRAF基因突变状态的检测分析[J].国际检验医学杂志,2012,33(13):1595-1596.
作者姓名:许惠利  严俊  李静  陈跃宇  江莺  吴跃龙
作者单位:1. 上海市嘉定区中心医院血液肿瘤科,201800
2. 上海市嘉定区中心医院病理科,201800
3. 上海市嘉定区中心医院普外科,201800
摘    要:目的 检测某地区结直肠癌患者KRAS基因和BRAF基因的突变状态及其与年龄、性别的关系.方法 由某地区30例结直肠癌患者石蜡组织中提取DNA,通过直接测序法及荧光定量PCR法检测KRAS基因及BRAF基因突变状态.结果 KRAS基因突变率为43.3%,共发现6种突变类型,主要位于12、13密码子,其中以c.38G>A突变率最高(38.5%).单因素及多因素分析均提示KRAS突变与年龄或性别无相关性.BRAF基因突变率为0.结论 某地区结直肠癌患者KRAS基因突变率高,靶向治疗前进行突变状态检测具有重要临床价值.

关 键 词:结直肠肿瘤  KRAS基因  BRAF基因  基因突变

Mutation of KRAS and BRAF gene in patients with colorectal cancer in certain area
Xu Huili , Yan Jun , Li Jing , Chen Yueyu , Jiang Ying , Wu Yuelong.Mutation of KRAS and BRAF gene in patients with colorectal cancer in certain area[J].International Journal of Laboratory Medicine,2012,33(13):1595-1596.
Authors:Xu Huili  Yan Jun  Li Jing  Chen Yueyu  Jiang Ying  Wu Yuelong
Affiliation:1.Department of Hematology and Oncology;2.Department of Pathology;3.Department of General Sugery;Shanghai Jiading District Central Hospital,Shanghai 201800,China)
Abstract:Objective To investigate the prevalence of KRAS and BRAF gene mutation in patients with colorectal cancer in certain area and its relationship with age and sex.Methods DNA,extracted from paraffin tissue samples of 30 patients with colorectal cancer,were examined by direct sequencing for KRAS gene and fluorescence quantitative polymerase chain reaction for BRAF gene.Results 43.4% patients were found carrying KRAS mutations of 6 types,mainly located on codon 12 and 13.The most common mutation type was 38G>A(38.5%).KRAS mutation was not associated with age or sex.No BRAF mutation was found.Conclusion KRAS mutation rate might be high in patients with colorectal cancer in this area.Examination of KRAS mutation before targeted therapy could be valuable in clinic work.
Keywords:colorectal neoplasms  KRAS gene  BRAF gene  gene mutation
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