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Updated: Jun 5, 2025

Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
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在固体器官瘤中微卫星不稳定性和体基因变异概况

Ibrahim Halil Erdogdu1, Seda Orenay-Boyacioglu2, Olcay Boyacioglu3,4

  • 1Department of Molecular Pathology, Faculty of Medicine, Aydin Adnan Menderes University, Aydin, Turkey.

Archives of medical science : AMS
|December 9, 2024
PubMed
概括

DNA不匹配修复缺陷 (dMMR) 和微卫星不稳定性 (MSI) 与固体瘤中的特定基因变异有关. 这项研究在土耳其患者中确定了频繁的致病变体,如BLM外因子7c.1544delA,提供了新的人口数据.

关键词:
国家储备系统 (NGS)免疫组织化学疗法微卫星的不稳定性多重实时聚合酶连锁反应.固体器官瘤 固体器官瘤

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