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首页> 外文期刊>BMC Medical Genetics >The altered activity of P53 signaling pathway by STK11 gene mutations and its cancer phenotype in Peutz-Jeghers syndrome
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The altered activity of P53 signaling pathway by STK11 gene mutations and its cancer phenotype in Peutz-Jeghers syndrome

机译:Peutz-Jeghers综合征的STK11基因突变改变P53信号通路的活性及其癌症表型

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摘要

Peutz-Jeghers syndrome (PJS) is caused by mutations in serine/threonine kinase 11 (STK11) gene. The increased cancer risk has been connected to P53 pathway. PJS probands with STK11 mutation were included in the function analysis. P53 activity elevated by STK11 mutants was investigated using dual-luciferase reporter assay in vitro after constructing expression vectors of STK11 wild type and mutants generated by site-directed substitution. The association between the P53 activity and clinicopathological factors was analysis, especially the cancer history. Thirteen probands with STK11 mutations were involved, and within the mutations, c.G924A was novel. P53 activity elevation caused by 6 truncating mutations were significantly lower than that of STK11 wild type (P?
机译:Peutz-Jeghers综合征(PJS)由丝氨酸/苏氨酸激酶11(STK11)基因突变引起。增加的癌症风险与P53途径有关。功能分析中包括STK11突变的PJS先证者。在构建STK11野生型表达载体和定点取代产生的突变体后,在体外用双荧光素酶报告基因检测了STK11突变体升高的P53活性。分析了P53活性与临床病理因素之间的关联,尤其是癌症史。涉及13个STK11突变的先证者,并且在突变中,c.G924A是新颖的。由6个截短突变引起的P53活性升高显着低于STK11野生型(P <0.05)。在5个家庭中观察到了癌症的家族史。其中,P53活性降低,2个家庭中的40岁之前发生癌症,而P53活性没有明显改变,而其他3个家庭中的45岁之后发生癌症。 PJS患者中由STK11突变引起的受影响的P53活性与蛋白截短显着相关,而PJS中的癌症风险可以通过途径而非P53途径升高。 P53活性测试可能是预测PJS癌症风险的有用支持方法,可能对临床实践有帮助。

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