移码突变
微卫星不稳定性
突变
基因
生物
癌症研究
癌症
编码区
分子生物学
遗传学
微卫星
等位基因
作者
Seong Won Moon,Hyun Ji Son,Jeesoo Chae,Nam Jin Yoo,Chang Hyeok An,Sug Hyung Lee
出处
期刊:Applied Immunohistochemistry & Molecular Morphology
日期:2021-05-03
卷期号:29 (8): 570-575
被引量:3
标识
DOI:10.1097/pai.0000000000000939
摘要
ZMYM4 is a zinc finger protein, whose cancer-related functions are partially known (cell shape maintenance and cell death). In this study, we analyzed 4 sites of mononucleotide repeats in the coding sequence of ZMYM4 in gastric (GC) and colonic cancers (CC). Seven of the 32 high microsatellite instability (MSI-H) GCs (21.9%) and 23 of 113 MSI-H CCs (20.4%) harbored ZMYM4 frameshift mutations with no significant difference between the 2 organs ( P >0.05). There was no ZMYM4 frameshift mutations in microsatellite-stable GCs and CCs. We also identified that 6 of 16 MSI-H CCs (37.5%) exhibited intratumoral heterogeneity of the ZMYM4 frameshift mutations. In both GC and CC with MSI-H, ZMYM4 expression in ZMYM4 -mutated cases was significantly lower than that in ZMYM4 -nonmutated cases. Our study indicates that ZMYM4 is altered at multiple levels (frameshift mutation, mutational intratumoral heterogeneity, and loss of expression), suggesting their relations with MSI-H GC and CC.
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