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Nat Commun:膀胱癌中ADGRG6 增强子变异和FRS2拷贝数变异是血管生成相关的驱使因子

2019-02-27 AlexYang MedSci原创

膀胱癌是最常见的和高度血管化的癌症之一。最近,有研究人员为了更好的理解该类型癌症的基因组结构和潜在的病因,对上皮膀胱恶性肿瘤(UBCs,最常见的膀胱癌类型)进行了全基因组测序和靶向测序。研究发现,影响基因调控元件和结构变异(SVs)且能干扰基因功能的复发性变异较为普遍。有意义的是,研究人员发现ADGRG6 增强子变异和FRS2拷贝数变异与肿瘤中更高的蛋白表达量和不良预后相关。功能分析阐释了UBC细

膀胱癌是最常见的和高度血管化的癌症之一。最近,有研究人员为了更好的理解该类型癌症的基因组结构和潜在的病因,对上皮膀胱恶性肿瘤(UBCs,最常见的膀胱癌类型)进行了全基因组测序和靶向测序。

研究发现,影响基因调控元件和结构变异(SVs)且能干扰基因功能的复发性变异较为普遍。有意义的是,研究人员发现ADGRG6 增强子变异和FRS2拷贝数变异与肿瘤中更高的蛋白表达量和不良预后相关。功能分析阐释了UBC细胞中ADGRG6的缺失或者FRS2的表达能够减弱其招募上皮细胞的能力并且诱导管道形成。更多的是,途径评估阐释了复发性变异存在于多个血管生成相关基因中。

最后,研究人员指出,他们的结果阐释了膀胱癌多维度的基因组背景,并强调了UBC肿瘤形成中的非编码区变异和SVs。另外,研究人员还认为ADGRG6和FRS2作为新的病理性血管生成调控子能够促进UBC中以血管为靶标的疗法的发展。

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    2019-08-09 liuli5079
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    2019-09-21 docwu2019
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    2019-07-21 shock_melon
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    2019-09-28 tulenzi
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    2019-02-27 衣带渐宽

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