Aberrant activation of the RAS signaling pathway is a halmark of various cancers. This activation, is often caused by mutations in RAS genes or other pathway components and, drivesi uncontrolled cell growth and proliferation. Studies have demonstrated that certain codon mutations can significantly influence the clinical outcomes of cancer patients. Historically, KRAS was considered “undruggable”; however, recent advancements in drug discovery have led to the development of promising KRAS inhibitors. Accurately identifying the specific type of KRAS mutation in a patient is essential for making optimal treatment decisions. Several methods have been developed for detecting KRAS mutations to address this need, focusing on creating robust, rapid, sensitive, accurate, and cost-effective approaches, particularly for point-of-care applications. Starting with the Ras family and RASopathies, this review provides a comprehensive overview of KRAS mutation detection methods, ranging from research-use-only techniques to in vitro diagnostic-certified tests. Published results are critically evaluated in terms of accuracy, sensitivity, cost, throughput, and suitability for various sample types and clinical settings. This, offers researchers and clinicians an up-to-date resource for.
RAS信号通路的异常激活是多种癌症的标志性特征。这种激活通常由RAS基因或其他通路组分的突变引起,驱动细胞不受控制的生长和增殖。研究表明,特定密码子突变能显著影响癌症患者的临床结局。历史上,KRAS曾被视为"不可成药"靶点,但近年来药物研发的突破已催生出前景广阔的KRAS抑制剂。准确识别患者KRAS突变的具体类型对制定最佳治疗方案至关重要。为满足这一需求,目前已开发出多种KRAS突变检测方法,重点关注建立稳健、快速、灵敏、准确且经济高效的技术体系,尤其适用于即时检测场景。本文从Ras家族及RAS相关疾病切入,系统综述了从研究专用技术到经体外诊断认证的KRAS突变检测方法,从准确性、灵敏度、成本、通量以及对不同样本类型和临床场景的适用性等维度对已发表成果进行批判性评估,为研究人员和临床工作者提供最新的技术参考资源。
Advances and Challenges in KRAS Mutation Detection and Clinical Implications