突变导致的Ras / PI3K/PTEN/Akt / mTOR通路激活在EMT,肿瘤进展和老化中发挥着重要的作用.RAS,PIK3CA,PIK3R1,PIK3R4,pik3r5,IRS4,PTEN,Akt1,TSC1,TSC2,Rheb,mTOR,和70s6k 的基因突变和放大在某些癌症中被检测到.这一途径的异常活化可能是不同类型癌症变换的一个促成因素.PIK3CA突变率分别是,乳腺癌约25%,大肠癌32%,子宫内膜30%,大脑27%,胃癌25%,肺癌4%.这些突变聚集在螺旋(e542,e545)内的小的热点区域的和激酶(h1047)域.这些基因突变的位置最近已被审慎评估.这些突变经常导致它的激酶活性的激活.此外,Ras / PI3K/Akt/mTOR途径表达的增加也会经常出现在一些癌症中,在卵巢癌中pikc3a基因约放大40%.
英语翻译Mutations resulting in activation of the Ras/PI3K/PTEN/A
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