Venegas-Rodríguez José Luis, Hernández-Sandoval Jesús Arturo, Gutiérrez-Angulo Melva, Moreno-Ortiz José Miguel, González-Mercado Anahí, Peregrina-Sandoval Jorge, Ramírez-Plascencia Helen Haydee Fernanda, Flores-López Beatriz Armida, Alvizo-Rodríguez Carlos Rogelio, Valenzuela-Pérez Jesús Alonso, Cervantes-Ortiz Sergio, Ayala-Madrigal María de la Luz
Instituto de Genética Humana "Dr. Enrique Corona Rivera", Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara 44340, Jalisco, Mexico.
Programa de Doctorado en Genética Humana, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara 44340, Jalisco, Mexico.
Cancers (Basel). 2024 Jun 25;16(13):2323. doi: 10.3390/cancers16132323.
We searched for the prevalence of actionable somatic mutations in exon 2 of the gene 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 the gene 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 ( > 0.05). Furthermore, a comprehensive search was carried out in PubMed/NCBI and Google for the prevalence of exon 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 of alleles in CRC patients will enhance their potential to receive targeted treatments and contribute to the understanding of the genomic profile of CRC.
我们在墨西哥西部结直肠癌患者中寻找该基因第2外显子中可操作的体细胞突变的患病率。对在瓜达拉哈拉市民医院招募的150例散发性结直肠癌患者的肿瘤组织DNA样本进行了分析。使用桑格测序法鉴定该基因第2外显子中的突变,并结合临床病理特征对数据进行分析。在26例患者中检测到密码子12(rs121913529 G>A、G>C和G>T)和密码子13(rs112445441 G>A)的变异(患病率为17%)。在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,在PubMed/NCBI和谷歌上全面搜索了拉丁美洲人群中该基因第2外显子突变的患病率。纳入的17项研究共涉及12604例结直肠癌患者,总体患病率为30%(95%CI=0.26 - 0.35),不过不同数据来源的患病率在13%至43%之间。确定结直肠癌患者中该基因等位基因的变异和频率将提高他们接受靶向治疗的可能性,并有助于了解结直肠癌的基因组概况。