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Highly sensitive duplex MSI test and BAT40 germline polymorphism
APMIS ( IF 2.8 ) Pub Date : 2021-08-02 , DOI: 10.1111/apm.13170
So Young Kang 1 , Kyoung-Mee Kim 1, 2
Affiliation  

Tumors exhibiting DNA mismatch repair (MMR) deficiency and microsatellite instability (MSI) are responsive to immune checkpoint blockade. MSI is frequently diagnosed using five quasimonomorphic mononucleotide (pentaplex) markers; however, the assays have several technical limitations, including the lack of sensitivity of some of the markers. Although markers with increased sensitivity, such as CAT25 and BAT40, have been introduced, the majority of multiplex MSI tests have only been studied in Western populations and require further evaluation in an Asian cohort.

中文翻译:

高度敏感的双链 MSI 测试和 BAT40 种系多态性

表现出 DNA 错配修复 (MMR) 缺陷和微卫星不稳定性 (MSI) 的肿瘤对免疫检查点封锁有反应。MSI 经常使用五种准同形单核苷酸(五重)标记来诊断;然而,这些检测方法有几个技术限制,包括某些标志物缺乏敏感性。尽管已经引入了灵敏度更高的标记,例如 CAT25 和 BAT40,但大多数多重 MSI 测试仅在西方人群中进行过研究,需要在亚洲人群中进行进一步评估。
更新日期:2021-09-14
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