【摘 要】
：
目的:检测中国结直肠癌患者中KRAS和BRAF基因突变频率,探讨其与临床病理参数的关系.方法:收集2010-08-2011-12在中国医学科学院肿瘤医院手术切除的结直肠癌石蜡包埋组织508例,利用直接测序法检测组织中KRAS基因外显子2中第12、13密码子和外显子3中第61密码子以及BRAF基因外显子15和外显子11基因突变,并统计分析其与患者临床病理学特征的相关性.结果:经直接测序法确认在508
【机 构】
：
中国医学科学院北京协和医学院肿瘤医院内科
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目的:检测中国结直肠癌患者中KRAS和BRAF基因突变频率,探讨其与临床病理参数的关系.方法:收集2010-08-2011-12在中国医学科学院肿瘤医院手术切除的结直肠癌石蜡包埋组织508例,利用直接测序法检测组织中KRAS基因外显子2中第12、13密码子和外显子3中第61密码子以及BRAF基因外显子15和外显子11基因突变,并统计分析其与患者临床病理学特征的相关性.结果:经直接测序法确认在508例样本中,KRAS基因突变阳性率为35％ (178/508),其中第12位密码子突变阳性率26.2％ (133/508),GGT＞GAT、GGT＞GTT、GGT＞GCT、GGT＞TGT、GGT＞CGT及GGT＞AGT的突变率分别为14.4％ (73/508)、6.1％ (31/508)、2.0％(10/508)、1.4％ (7/508)、0.4％ (2/508)和2.0％ (10/508);第13位密码子突变率为6.9％ (35/508),其中最常见的GGC ＞GAC突变有31例;第61位密码子突变率为2.2％ (11/508).BRAF基因的突变阳性率为3.2％ (16/508),其中外显子15的V600E突变为2.0％ (10/508),外显子11突变为1％ (5/508).此外,检测还发现KRAS基因密码子12和13共同突变1例,KRAS基因密码子13和BRAF基因外显子11共同突变1例,还有32例患者携带有除以上常见突变位点之外的其他位点突变.结合临床病理特征分析,KRAS基因在女性患者中的突变率(41.7％,85/204)明显高于男性患者(30.6％,93/304),差异有统计学意义(P＜0.05).而KRAS和BRAF基因突变与肿瘤部位、分化程度、Dukes分期、淋巴结转移,远处转移及病理类型均无相关性(均P ＞0.05).结论:我国结直肠癌患者存在较高的KRAS和BRAF基因突变频率,且女性患者明显高于男性.直接测序法可以作为一种比较经济、可靠、方便的检测手段用于KRAS和BRAF基因突变的检测,进而指导我国结直肠癌患者的靶向治疗.
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