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Nature:詹启敏院士发现与食管鳞癌基因组中8个重要基因突变

2014-04-07 MedSci MedSci原创

   日前,英国《自然》杂志在线发表由中国医学科学院肿瘤医院分子肿瘤学国家重点实验室主任詹启敏院士团队与华大基因、汕头大学医学院等合作取得的一项科学成果。       研究人员通过高通量测序、比较基因组杂交芯片分析、生物学功能和临床验证研究,全面系统揭示了食管鳞癌的遗传突变背景,发现了与食管鳞癌发生发展进程和临 床预后相关

   日前,英国《自然》杂志在线发表由中国医学科学院肿瘤医院分子肿瘤学国家重点实验室主任詹启敏院士团队与华大基因、汕头大学医学院等合作取得的一项科学成果。
 

Nature:中国学者首次全面揭示食管鳞癌基因组异常改变


    研究人员通过高通量测序、比较基因组杂交芯片分析、生物学功能和临床验证研究,全面系统揭示了食管鳞癌的遗传突变背景,发现了与食管鳞癌发生发展进程和临 床预后相关的基因。该研究为了解食管鳞癌的发病机理、寻找食管鳞癌诊断的分子标志物、确定研发临床治疗的药物靶点以及制定有效治疗方案提供了理论和实验依 据。

    詹启敏表示,食管癌是中国高发的恶性肿瘤,全世界食管癌造成的死亡有超过50%发生在我国。目前,学界对食管癌发生和发展的机制尚不明了,临床治疗缺乏特异性的分子靶点和有效的治疗药物。

    在上述研究中,研究人员发现了 8 个与食管鳞癌发生相关的重要的基因突变,其中 FAM135B 是首次发现的肿瘤相关基因;同时获得了食管鳞癌拷贝数变异的重要数据,发现位于染色体 11q13.3-13.4 扩增区域的 MIR548K 参与食管鳞癌的恶性表型的形成,这些基因突变和拷贝数的变异是食管癌发生发展的重要因素,与预后密切相关。

    该项研究还发现,重要组蛋白调节基因 MLL2、ASH1L、MLL3、SETD1B 和 CREBBP/EP300 在食管鳞癌中呈现频繁非沉默突变;PI3K 是食管鳞癌突变频率最高的潜在药靶,PSMD2、 RARRES1、SRC、GSK3β 和 SGK3 等是潜在新药靶。研究人员整合了所有基因突变和基因拷贝变异数据,确定了与食管鳞癌发生发展相关的重要信号通路,包括 Wnt、cell cycle、Notch、RTK-Ras 和 AKT 通路。

    詹启敏指出,该研究首次从创新的视野和系统的层面,描绘了我国高发食管鳞癌基因组异常改变的全景。

原始出处:

Song Y, Li L, Ou Y, Gao Z, Li E, Li X, Zhang W, Wang J, Xu L, Zhou Y, Ma X, Liu L, Zhao Z, Huang X, Fan J, Dong L, Chen G, Ma L, Yang J, Chen L, He M, Li M, Zhuang X, Huang K, Qiu K, Yin G, Guo G, Feng Q, Chen P, Wu Z, Wu J, Ma L, Zhao J, Luo L, Fu M, Xu B, Chen B, Li Y, Tong T, Wang M, Liu Z, Lin D, Zhang X, Yang H, Wang J, Zhan Q.Identification of genomic alterations in oesophageal squamous cell cancer.Nature. 2014 Mar 16. doi: 10.1038/nature13176.

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    2015-02-24 liye789132251
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    2014-04-30 117.136.0.5

    国家有钱不砸干什么

    0

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    2014-04-09 zhouqu_8
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    2014-04-08 116.231.255.56

    这种研究都是钱砸出来的!!

    0

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