STAG2 基因缺失改善膀胱癌的预后
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By LabMedica International staff writers Posted on 19 Nov 2013 |
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图片：本图片显示包含 STAG2 基因突变的膀胱癌样本（图片由西班牙国家癌症研究中心提供）
西班牙癌症研究人员开展的一项研究结果显示，STAG2（基质抗原 2）基因突变通过与防止异倍体的基因作用不同的作用机理来抑制膀胱尿路上皮癌 (UBC)。
西班牙国家癌症研究中心的研究人员（马德里）开展了一项外显子组测序研究，以确定基因与非浸润性膀胱癌的相关性。他们分析了来自 17 名膀胱癌患者的外显子组，并通过对另外 60 名患者进行的特定基因组分析对数据进行了随后验证。
研究结果已发表于 2013 年 10 月 13 日的网络版《自然遗传学》(Nature Genetics）杂志上，研究发现：在涉及染色质修饰（MLL2、ASXL2 和 BPTF）、细胞分裂（STAG2、SMC1A 和 SMC1B）以及 DNA 修复（ATM、ERCC2 和 FANCA）的蛋白质肿瘤编码中，有一组此前未知的基因突变。UBC 患者中 STAG2 突变或缺失显著且常见，主要体现于早期或低级别的 UBC，且 STAG2 的缺失与预后改善相关。
“我们发现了此类肿瘤中以前未提及的 9 种基因变化，并发现其中近 40% 的侵袭性最低的肿瘤 STAG2 无活性，”资深作者，西班牙国家癌症研究中心的上皮癌变组组长 Francisco X. Real 博士说。“这些基因中的部分基因参与此前未述及的膀胱癌通路，例如细胞分裂和 DNA 修复；还证实和扩展了此类癌症研究中曾述及的其他基因通路，例如染色质修饰。”
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西班牙国家癌症研究中心的研究人员（马德里）开展了一项外显子组测序研究，以确定基因与非浸润性膀胱癌的相关性。他们分析了来自 17 名膀胱癌患者的外显子组，并通过对另外 60 名患者进行的特定基因组分析对数据进行了随后验证。
研究结果已发表于 2013 年 10 月 13 日的网络版《自然遗传学》(Nature Genetics）杂志上，研究发现：在涉及染色质修饰（MLL2、ASXL2 和 BPTF）、细胞分裂（STAG2、SMC1A 和 SMC1B）以及 DNA 修复（ATM、ERCC2 和 FANCA）的蛋白质肿瘤编码中，有一组此前未知的基因突变。UBC 患者中 STAG2 突变或缺失显著且常见，主要体现于早期或低级别的 UBC，且 STAG2 的缺失与预后改善相关。
“我们发现了此类肿瘤中以前未提及的 9 种基因变化，并发现其中近 40% 的侵袭性最低的肿瘤 STAG2 无活性，”资深作者，西班牙国家癌症研究中心的上皮癌变组组长 Francisco X. Real 博士说。“这些基因中的部分基因参与此前未述及的膀胱癌通路，例如细胞分裂和 DNA 修复；还证实和扩展了此类癌症研究中曾述及的其他基因通路，例如染色质修饰。”
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