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首页> 外文期刊>Genomics >Telomerase reverse transcriptase promoter mutations in cancers derived from multiple organ sites among middle eastern population
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Telomerase reverse transcriptase promoter mutations in cancers derived from multiple organ sites among middle eastern population

机译：端粒酶逆转转录酶启动子突变癌中源自中东人群中的多器官位点

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Sanger Sequencing and immunohistochemistry was employed to investigate the TERT promoter mutations and TERT protein expression with their association to clinicopathological characteristics in over 2200 samples of Middle Eastern origin from 13 different types of cancers. The TERT promoter mutations were most frequently present in bladder cancer (68.6%), followed by central nervous system tumors (28.7%), thyroid cancer (15.4%), prostate cancer (9.3%), endometrial carcinoma (3.7%), rhabdomyosarcoma (1.4%), colorectal cancer (1%), epithelial ovarian carcinoma (0.7%) and breast cancer (0.7%). No mutations were observed in other types of cancers. In bladder cancer, we found significant inverse association with metastasis and a trend to good survival in patients with TERT mutations. In gliomas, TERT promoter mutations predicted poor prognosis. In thyroid cancer, high frequency of TERT mutation was observed in poorly differentiated carcinoma. In addition, TERT promoter mutations were associated with aggressive markers and poor outcome in follicular thyroid carcinomas.
机译：使用Sanger测序和免疫组织化学来研究TERT启动子突变和TERT蛋白表达，其与来自13种不同类型的癌症的2200多种中东起源中的临床病理特征的关联。 TERT启动子突变最常存在于膀胱癌（68.6％）中，其次是中枢神经系统肿瘤（28.7％），甲状腺癌（15.4％），前列腺癌（9.3％），子宫内膜癌（3.7％），横纹肌肉瘤（ 1.4％），结直肠癌（1％），上皮性卵巢癌（0.7％）和乳腺癌（0.7％）。在其他类型的癌症中没有观察到突变。在膀胱癌中，我们发现与转移的逆转转移和良好的患者生存率呈现出显着的逆转录。在Gliomas，Tert启动子突变预测不良。在甲状腺癌中，观察到癌癌差的高频率突变。此外，Tert启动子突变与腐蚀性标记物相关，滤泡甲状腺癌的差异。

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