Koochak Aghigh, Rakhshani Nasser, Karbalaie Niya Mohammad Hadi, Tameshkel Fahimeh Safarnezhad, Sohrabi Masoud Reza, Babaee Mohammad Reza, Rezvani Hamid, Bahar Babak, Imanzade Farid, Zamani Farhad, Khonsari Mohammad Reza, Ajdarkosh Hossein, Hemmasi Gholamreza
Gastrointestinal and Liver Diseases Research Center, Firoozgar Hospital, Iran University Of Medical Sciences, Tehran, Iran E-mail :
Asian Pac J Cancer Prev. 2016;17(2):603-8. doi: 10.7314/apjcp.2016.17.2.603.
The investigation of mutation patterns in oncogenes potentially can make available a reliable mechanism for management and treatment decisions for patients with colorectal cancer (CRC). This study concerns the rate of KRAS and BRAF genes mutations in Iranian metastatic colorectal cancer (mCRC) patients, as well as associations of genotypes with clinicopathological features.
A total of 1,000 mCRC specimens collected from 2008 to 2012 that referred to the Mehr Hospital and Partolab center, Tehran, Iran enrolled in this cross sectional study. Using HRM, Dxs Therascreen and Pyrosequencing methods, we analyzed the mutational status of KRAS and BRAF genes in these.
KRAS mutations were present in 33.6% cases (n=336). Of KRAS mutation positive cases, 85.1% were in codon 12 and 14.9% were in codon 13. The most frequent mutation at KRAS codon 12 was Gly12Asp; BRAF mutations were not found in any mCRC patients (n=242). In addition, we observed a strong correlation of KRAS mutations with some clinicopathological characteristics.
KRAS mutations are frequent in mCRCs while presence of BRAF mutations in these patients is rare. Moreover, associations of KRAS genotypes with non-mucinous adenocarcinoma and depth of invasion (pT3) were remarkable.
对癌基因中突变模式的研究可能为结直肠癌（CRC）患者的管理和治疗决策提供一种可靠的机制。本研究关注伊朗转移性结直肠癌（mCRC）患者中KRAS和BRAF基因的突变率，以及基因型与临床病理特征的关联。
本横断面研究纳入了2008年至2012年期间收集自伊朗德黑兰Mehr医院和Partolab中心的1000份mCRC标本。我们使用高分辨率熔解曲线分析（HRM）、DxS Therascreen和焦磷酸测序方法分析了这些标本中KRAS和BRAF基因的突变状态。
33.6%的病例（n = 336）存在KRAS突变。在KRAS突变阳性病例中，85.1%发生在密码子12，14.9%发生在密码子13。KRAS密码子12最常见的突变是Gly12Asp；在任何mCRC患者（n = 242）中均未发现BRAF突变。此外，我们观察到KRAS突变与一些临床病理特征之间存在强相关性。
KRAS突变在mCRC中很常见，而这些患者中BRAF突变很少见。此外，KRAS基因型与非黏液腺癌和浸润深度（pT3）之间的关联显著。
