文章：

散发性结直肠癌患者中的KRAS外显子2突变：墨西哥与拉丁美洲人群的患病率差异

KRASExon 2 Mutations in Patients with Sporadic Colorectal Cancer: Prevalence Variations in Mexican and Latin American Populations

原文发布日期：25 June 2024

DOI: 10.3390/cancers16132323

类型: Article

开放获取: 是

英文摘要：

We searched for the prevalence of actionable somatic mutations in exon 2 of theKRASgene in western Mexican patients with CRC. Tumor tissue DNA samples from 150 patients with sporadic CRC recruited at the Civil Hospital of Guadalajara were analyzed. Mutations in exon 2 of theKRASgene were identified using Sanger sequencing, and the data were analyzed considering clinical–pathological characteristics. Variants in codon 12 (rs121913529 G>A, G>C, and G>T) and codon 13 (rs112445441 G>A) were detected in 26 patients (with a prevalence of 17%). No significant associations were found between these variants and clinical–pathological characteristics (p> 0.05). Furthermore, a comprehensive search was carried out in PubMed/NCBI and Google for the prevalence ofKRASexon 2 mutations in Latin American populations. The 17 studies included 12,604 CRC patients, with an overall prevalence of 30% (95% CI = 0.26–0.35), although the prevalence ranged from 13 to 43% across the different data sources. Determining the variation and frequency ofKRASalleles in CRC patients will enhance their potential to receive targeted treatments and contribute to the understanding of the genomic profile of CRC.

摘要翻译： 

本研究旨在探究墨西哥西部结直肠癌患者KRAS基因外显子2中可操作体细胞突变的流行率。我们分析了瓜达拉哈拉市立医院招募的150例散发性结直肠癌患者的肿瘤组织DNA样本。通过桑格测序技术鉴定KRAS基因外显子2的突变，并结合临床病理特征进行数据分析。在26例患者（流行率为17%）中检测到第12密码子（rs121913529 G>A、G>C和G>T）和第13密码子（rs112445441 G>A）的变异。这些变异与临床病理特征之间未发现显著关联（p>0.05）。此外，我们在PubMed/NCBI和Google学术平台对拉丁美洲人群KRAS外显子2突变流行率进行了系统性检索。纳入的17项研究共包含12,604例结直肠癌患者，总体流行率为30%（95% CI=0.26–0.35），但不同数据源的流行率范围在13%至43%之间。明确结直肠癌患者KRAS等位基因的变异类型和频率，将有助于提高患者接受靶向治疗的潜力，并为理解结直肠癌的基因组特征提供重要依据。

原文链接：

KRASExon 2 Mutations in Patients with Sporadic Colorectal Cancer: Prevalence Variations in Mexican and Latin American Populations