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KRAS 基因突变检测方法学:从 RFLP 到基于 CRISPR/Cas 的方法。

KRAS mutations detection methodology: from RFLP to CRISPR/Cas based methods.

机构信息

Department of Genetics, Faculty of Basic Sciences, Shahrekord Branch, Islamic Azad University, Shahrekord, Iran.

Department of Medical Genetics and Molecular Medicine, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.

出版信息

Funct Integr Genomics. 2024 Oct 5;24(5):183. doi: 10.1007/s10142-024-01421-z.

DOI:10.1007/s10142-024-01421-z
PMID:39367162
Abstract

In personalized cancer medicine, the identification of KRAS mutations is essential for making treatment decisions and improving patient outcomes. This work presents a comprehensive review of the current approaches for detection of KRAS mutations in different cancers. We highlight the value of fast and reliable KRAS mutations discovery and the effectiveness of molecular testing for selecting individuals who might benefit from targeted therapy. We provide an overview of various methods and tools available for detecting KRAS mutations, such as digital droplet PCR, next-generation sequencing (NGS), and polymerase chain reaction (PCR). We also address the difficulties and limitations in the identification of KRAS mutations, namely tumor heterogeneity and the emergence of resistance mechanisms. This article aims to guide clinicians in KRAS mutation identification.

摘要

在个性化癌症医学中,鉴定 KRAS 突变对于做出治疗决策和改善患者预后至关重要。本工作全面综述了目前用于不同癌症中 KRAS 突变检测的方法。我们强调了快速可靠的 KRAS 突变发现的价值,以及分子检测在选择可能受益于靶向治疗的个体方面的有效性。我们提供了用于检测 KRAS 突变的各种方法和工具的概述,例如数字液滴 PCR、下一代测序 (NGS) 和聚合酶链反应 (PCR)。我们还讨论了鉴定 KRAS 突变时面临的困难和局限性,即肿瘤异质性和耐药机制的出现。本文旨在为临床医生提供 KRAS 突变鉴定方面的指导。

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本文引用的文献

1
An Update on the Application of CRISPR Technology in Clinical Practice.CRISPR 技术在临床实践中的应用进展更新。
Mol Biotechnol. 2024 Feb;66(2):179-197. doi: 10.1007/s12033-023-00724-z. Epub 2023 Jun 3.
2
New advancements in CRISPR based gene therapy of Duchenne muscular dystrophy.基于 CRISPR 的杜氏肌营养不良症基因治疗的新进展。
Gene. 2023 May 30;867:147358. doi: 10.1016/j.gene.2023.147358. Epub 2023 Mar 11.
3
A Review on the Mechanism and Applications of CRISPR/Cas9/Cas12/Cas13/Cas14 Proteins Utilized for Genome Engineering.
CRISPR/Cas9、Cas12、Cas13、Cas14 蛋白用于基因组工程的机制及应用综述
Mol Biotechnol. 2023 Mar;65(3):311-325. doi: 10.1007/s12033-022-00567-0. Epub 2022 Sep 27.
4
Applications of CRISPR/Cas13-Based RNA Editing in Plants.基于 CRISPR/Cas13 的 RNA 编辑在植物中的应用。
Cells. 2022 Aug 27;11(17):2665. doi: 10.3390/cells11172665.
5
A review on CRISPR/Cas-based epigenetic regulation in plants.CRISPR/Cas 系统介导的植物表观遗传调控研究进展
Int J Biol Macromol. 2022 Oct 31;219:1261-1271. doi: 10.1016/j.ijbiomac.2022.08.182. Epub 2022 Aug 31.
6
Liquid biopsy: a step closer to transform diagnosis, prognosis and future of cancer treatments.液体活检:癌症诊疗的变革更近一步。
Mol Cancer. 2022 Mar 18;21(1):79. doi: 10.1186/s12943-022-01543-7.
7
Mass spectrometric detection of KRAS protein mutations using molecular imprinting.利用分子印迹技术进行 KRAS 蛋白突变的质谱检测。
Nanoscale. 2021 Dec 16;13(48):20401-20411. doi: 10.1039/d1nr03180e.
8
CRISPR and KRAS: a match yet to be made.CRISPR 与 KRAS:尚未匹配的一对。
J Biomed Sci. 2021 Nov 15;28(1):77. doi: 10.1186/s12929-021-00772-0.
9
mutations testing in non-small cell lung cancer: the role of Liquid biopsy in the basal setting.非小细胞肺癌中的突变检测:液体活检在基础治疗中的作用
J Thorac Dis. 2020 Jul;12(7):3836-3843. doi: 10.21037/jtd.2020.01.19.
10
Molecular epidemiology and diagnostics of KRAS mutations in human cancer.人类癌症中 KRAS 基因突变的分子流行病学和诊断学
Cancer Metastasis Rev. 2020 Dec;39(4):1029-1038. doi: 10.1007/s10555-020-09915-5.