KRAS、NRAS、BRAF和PIK3CA基因的突变是评估结直肠癌(CRC)发展和进展的关键因素。然而，在伊朗，关于CRC患者遗传资料的数据很有限，除了KRAS exon2和BRAF V600F突变。本研究旨在研究这些基因的突变谱和预后效应，并探讨这些突变与CRC临床病理特征之间的关系。为了实现这些目标，在151名结直肠癌患者中，使用PCR和pyrosequencing确定了KRAS (exons 2, 3和4)、NRAS (exons 2, 3和4)、PIK3CA (exons 9和20)和BRAF (exon 15)的突变。患者中，41%、5.96%、3.97%和13.24%的病例中鉴定出了KRAS、BRAF、NRAS和PIK3CA突变，相应地，这些突变和临床病理特征之间存在一些显著的相关性。KRAS和PIK3CA的突变显示是I-IV期患者生存率较差的独立危险因素(p ＜0.0001和p＝0.001)，但BRAF突变对预后没有显著影响。我们的研究揭示了伊朗患者CRC生物标志物的突变率，并强调了KRAS和PIK3CA在该人群中短期整体生存率方面的重要作用。©2023年该作者。由Wiley Periodicals LLC出版的《临床实验室分析杂志》。

Mutations in KRAS, NRAS, BRAF, and PIK3CA genes are critical factors in clinical evaluation of colorectal cancer (CRC) development and progression. In Iran, however, the data regarding genetic profile of CRC patients is limited except for KRAS exon2 and BRAF V600F mutations. This study aimed to investigate the mutational spectrum and prognostic effects of these genes and explore the relationship between these mutations and clinicopathological features of CRC.To achieve these objectives, mutations in KRAS (exons 2, 3, and 4), NRAS (exons 2, 3, and 4), PIK3CA (exons 9 and 20), and BRAF (exon 15) was determined using PCR and pyrosequencing in a total of 151 patients with colorectal cancer.KRAS, BRAF, NRAS, and PIK3CA mutations were identified in 41%, 5.96%, 3.97%, and 13.24% of the cases, respectively. There were some significant correlations between clinicopathological features and KRAS, PIK3CA, BRAF, and NRAS mutations. Mutations in KRAS and PIK3CA were shown to be independent risk factors for poor survival of the patients at stage I-IV (p < 0.0001 and p = 0.001, respectively). No significant impact on prognosis was observed in patients with BRAF mutations.Our study revealed the prevalence of CRC biomarkers mutations in Iranian patients and emphasized the role of KRAS and PIK3CA on shorter overall survival rates in this population.© 2023 The Authors. Journal of Clinical Laboratory Analysis published by Wiley Periodicals LLC.