[结直肠癌中KRAS、NRAS和BRAF基因突变的检测]

[Detection of KRAS,NRAS and BRAF gene mutations in colorectal carcinoma].

作者信息

Zhang Keping, Xu Jie, Yan Lixu, Liu Xunhua, Xu Fangping, Liu Yanhui

机构信息

Department of Pathology, Guangdong General Hospital, Guangdong Academy of Medical Sciences, Guangzhou 510010, China.

Department of Pathology, Guangdong General Hospital, Guangdong Academy of Medical Sciences, Guangzhou 510010, China; E-mail:

出版信息

Zhonghua Bing Li Xue Za Zhi. 2015 Apr;44(4):254-7.

PMID:25975908

Abstract

OBJECTIVE

To investigate mutations frequencies of KRAS,NRAS and BRAF genes in colorectal carcinoma.

METHODS

Tissue specimens from 200 colorectal cancer patients at diagnosis were collected and subject to KRAS,NRAS and BRAF mutation analyses by PCR-based direct DNA sequencing targeting exons 2, 3 and 4 of KRAS gene, exons 2, 3 and 4 of NRAS gene and exon 15 of BRAF gene.

RESULTS

Activating mutations were detected in KRAS (44%, 88/200), NRAS (2%, 4/200) and BRAF (5%, 10/200) in this study cohort.Among KRAS mutations, 64.8% (57/88) occurred in codon 12 and 12.5% (11/88) occurred in codon 13. KRAS gene mutation in exon 3 mainly involved codons 59 and 61. KRAS gene mutation in exon 4 mainly involved codons 117 and 146.

CONCLUSIONS

Mutations at exon 2 of KRAS gene have the highest frequency in colorectal carcinoma. Expanding the detection sites of KRAS gene combined with NRAS and BRAF genes may help to identify patients who will most likely benefit from targeted therapies.

摘要

目的

研究结直肠癌中KRAS、NRAS和BRAF基因的突变频率。

方法

收集200例结直肠癌患者诊断时的组织标本，通过基于PCR的直接DNA测序对KRAS基因的第2、3和4外显子、NRAS基因的第2、3和4外显子以及BRAF基因的第15外显子进行KRAS、NRAS和BRAF突变分析。

结果

在本研究队列中，KRAS（44%，88/200）、NRAS（2%，4/200）和BRAF（5%，10/200）检测到激活突变。在KRAS突变中，64.8%（57/88）发生在密码子12，12.5%（11/88）发生在密码子13。KRAS基因第3外显子的突变主要涉及密码子59和61。KRAS基因第4外显子的突变主要涉及密码子117和146。