Evaluation of BRAF mutations in patients with colorectal cancer in the east of Iran

Q4 Pharmacology, Toxicology and Pharmaceutics

Current Pharmacogenomics and Personalized Medicine Pub Date : 2023-06-02 DOI:10.2174/1875692120666230602115139

M. Naseri, E. Serki, A. Mansouri, M. Malekaneh

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Abstract

Several genetic alterations in cell growth regulatory genes, such as BRAF, are associated with colorectal cancer. Due to the introduction of biological agents designed to treat cancer, diagnostic tests using nucleic acids extracted from formalin-fixed and paraffin-embedded tissues are becoming more common. This study aimed to determine the incidence of BRAF mutations in colorectal cancer patients. 50 paraffin-embedded cancer specimens were obtained from Imam Reza Hospital of Birjand in Iran. PCR was used to amplify and sequence the BRAF gene exon 15, which was extracted from paraffin-embedded tissue using an improved technique. 2/43 (4%) of patients with colorectal cancer exhibited the BEAF V600E mutation. Most of the mutations occurred in patients over 50 years of age To understand how genetics and environment interact to influence the low incidence of BRAF mutations in the east of Iran, further research is needed to determine what is driving this low incidence of BRAF mutations and what factors contribute to it.

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伊朗东部结直肠癌患者BRAF突变的评估

细胞生长调节基因中的一些遗传改变，如BRAF，与结直肠癌有关。由于引入了用于治疗癌症的生物制剂，使用从福尔马林固定组织和石蜡包埋组织中提取的核酸进行诊断测试正变得越来越普遍。本研究旨在确定BRAF突变在结直肠癌患者中的发生率。50例石蜡包埋癌标本来自伊朗Birjand的Imam Reza医院。采用改进的技术从石蜡包埋组织中提取BRAF基因外显子15，采用PCR扩增并测序。2/43(4%)的结直肠癌患者出现BEAF V600E突变。大多数突变发生在50岁以上的患者中，为了了解遗传和环境如何相互作用来影响伊朗东部BRAF突变的低发病率，需要进一步的研究来确定是什么驱动了BRAF突变的低发病率，以及哪些因素导致了BRAF突变的低发病率。

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来源期刊

Current Pharmacogenomics and Personalized Medicine Pharmacology, Toxicology and Pharmaceutics-Pharmacology

CiteScore

0.40

自引率

0.00%

发文量

期刊介绍： Current Pharmacogenomics and Personalized Medicine (Formerly ‘Current Pharmacogenomics’) Current Pharmacogenomics and Personalized Medicine (CPPM) is an international peer reviewed biomedical journal that publishes expert reviews, and state of the art analyses on all aspects of pharmacogenomics and personalized medicine under a single cover. The CPPM addresses the complex transdisciplinary challenges and promises emerging from the fusion of knowledge domains in therapeutics and diagnostics (i.e., theragnostics). The journal bears in mind the increasingly globalized nature of health research and services.