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Rarity of AKT1 and AKT3 E17K mutations in squamous cell carcinoma of lung.

机译:肺鳞状细胞癌中AKT1和AKT3 E17K突变的罕见性。

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摘要

The recent discovery of a recurrent gain-of-function mutation, E17K, in the pleck-strin homology domain of the AKTl gene in breast, ovarian and colorectal tumors has caused considerable interest because AKTl is a critical mediator of a signaling pathway controlling cell proliferation, survival and angiogenesis.1'2 The E17K mutation results in constitutive activation of AKTl serine/threonine kinase activity by localization of AKTl to the plasma membrane in a PI3K-dependent manner.1 Interestingly, an analogous activating E17K mutation in the AKT3 gene has been reported in melanoma tumors and melanoma cell lines.
机译:乳腺,卵巢和大肠肿瘤中AKT1基因的斑点-Strin同源结构域中复发性功能获得性突变E17K的最新发现引起了人们的极大兴趣,因为AKT1是控制细胞增殖的信号传导途径的关键介体,存活和血管生成。1'2E17K突变导致AKT1丝氨酸/苏氨酸激酶活性以PI3K依赖性方式定位于质膜,从而组成性激活AKT1丝氨酸/苏氨酸激酶活性。1有趣的是,AKT3基因中类似的激活E17K突变具有在黑色素瘤肿瘤和黑色素瘤细胞系中已有报道。

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