The role of hMSH3 and hMSH6 in ovarian endometrioid carcinoma and relationship with microsatellite instability phenotype.
The role of hMSH3 and hMSH6 in ovarian endometrioid carcinoma and relationship with microsatellite instability phenotype.
复制标题
hMSH3和hMSH6在卵巢子宫内膜样癌中的作用及其与微卫星不稳定表型的关系。
DOI：
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发表时间：
2004
期刊：
影响因子：
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通讯作者：
Jinsong Liu
中科院分区：
文献类型：
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作者：
C. Albarracin;Elvio G. Silva;A. Malpica;R. Luthra;Jinsong Liu
DNA错配修复基因hMSH3和hMSH6的频繁移码突变已在具有微卫星不稳定性的结直肠癌和子宫内膜癌中报道，然而，尚不清楚它们是否在卵巢上皮样癌中发生类似的改变。在这项研究中，我们研究了移码突变的频率和蛋白表达hMSH3和hMSH6在卵巢癌微卫星不稳定或没有。在16例微卫星不稳定高表型中，hMSH3基因的poly（A）8区仅有1例发生移码突变（6%），而hMSH6基因的poly（C）8区未发生移码突变。此外，6个微卫星不稳定性低或20个微卫星稳定的肿瘤中没有一个在这些区域中的任一基因中显示突变。这些结果表明hMSH3和hMSH6单核苷酸序列的突变在卵巢类腺瘤中并不常见，其他机制可能在这些肿瘤的发生中起更重要的作用。
Frequent frameshift mutations in the DNA mismatch repair genes hMSH3, and hMSH6, have been reported in colorectal and endometrial cancers with microsatellite instability, however, it is unclear whether they are similarly altered in ovarian endometrioid carcinoma. In this study, we examined frequency of frameshift mutation and protein expression in hMSH3 and hMSH6 in ovarian endometrioid carcinoma with or without microsatellite instability. Only 1 frameshift mutation of the 16 cases with microsatellite instability-high phenotype (6%) was detected in poly(A)8 tract of the hMSH3, but not in poly(C)8 tract of hMSH6 genes. In addition, none of the 6 microsatellite instability-low or 20 microsatellite-stable tumors showed mutations in these regions in either gene. These results indicate that mutations in the mono-nucleotide tracts of hMSH3 and hMSH6 are infrequent in ovarian endometrioid adenocarcinomas, other mechanisms may play a more important role in the development of these tumors.