DNA错配修复
林奇综合征
医学
免疫组织化学
子宫内膜癌
结直肠癌
微卫星不稳定性
癌症
免疫疗法
肿瘤科
内科学
癌症研究
生物
基因
遗传学
等位基因
微卫星
作者
Elias Bou Farhat,Elio Adib,Melissa Daou,Abdul Rafeh Naqash,Ursula A. Matulonis,Kimmie Ng,David J. Kwiatkowski,Lynette M. Sholl,Amin H. Nassar
出处
期刊:Cancer Cell
[Elsevier]
日期:2024-01-01
卷期号:42 (1): 6-7
被引量:1
标识
DOI:10.1016/j.ccell.2023.12.001
摘要
Immunohistochemistry (IHC) is currently the first-line test for mismatch repair deficiency (MMR-D). Bou Farhat et al. show that mismatch repair (MMR) mutation signature by next-generation sequencing is a highly sensitive assay capable of detecting MMR-D cases that are missed in 1% and 5% of patients with MMR-D colorectal cancer (CRC) and endometrial cancer (EC), respectively. Patients with MMR-D tumors missed by IHC have similar clinical outcomes to patients with MMR-D by both IHC and mutation signature.
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