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    • 2. 发明申请
    • GENES FREQUENTLY ALTERED IN PANCREATIC NEUROENDOCRINE TUMORS
    • 普遍存在于胰腺神经元肿瘤中的基因
    • US20140045881A1
    • 2014-02-13
    • US13977810
    • 2012-01-04
    • Bert VogelsteinKenneth W. KinzlerVictor VelculescuLuis DiazNikolas PapadopoulosYuchen JiaoRalph Hruban
    • Bert VogelsteinKenneth W. KinzlerVictor VelculescuLuis DiazNikolas PapadopoulosYuchen JiaoRalph Hruban
    • C12Q1/68
    • C12Q1/6886C12Q2600/106C12Q2600/112C12Q2600/118C12Q2600/156G01N33/57438G01N2800/52
    • Pancreatic Neuroendocrine Tumors (PanNETs) are a rare but clinically important form of pancreatic neoplasia. To explore the genetic basis of PanNETs, we determined the exomic sequences of ten non-familial PanNETs and then screened the most commonly mutated genes in 58 additional PanNETs. Remarkably, the most frequently mutated genes specify proteins implicated in chromatin remodeling: 44% of the tumors had somatic inactivating mutations in MEN-1, which encodes menin, a component of a histone methyltransferase complex; and 43% had mutations in genes encoding either of the two subunits of a transcription/chromatin remodeling complex consisting of DAXX (death-domain associated protein) and ATRX (alpha thalassemia/mental retardation syndrome X-linked). Clinically, mutations in the MEN1 and DAXX/ATRX genes were associated with better prognosis. We also found mutations in genes in the mTOR (mammalian target of rapamycin) pathway in 14% of the tumors, a finding that could potentially be used to stratify patients for treatment with mTOR inhibitors.
    • 胰腺神经内分泌肿瘤(Pannets)是一种罕见但临床上重要的胰腺肿瘤形式。 为了探索PanNETs的遗传基础,我们确定了十个非家族PanNETs的外显子序列,然后筛选了58个额外的PanNET中最常见的突变基因。 值得注意的是,最常突变的基因指定涉及染色质重塑的蛋白质:44%的肿瘤在MEN-1中具有体细胞失活突变,其编码menin,组蛋白甲基转移酶复合物的组分; 43%在编码由DAXX(死亡相关蛋白)和ATRX(α地中海贫血/智力迟钝综合征X连锁)组成的转录/染色质重塑复合物的两个亚基之一的基因中具有突变。 在临床上,MEN1和DAXX / ATRX基因的突变与更好的预后相关。 我们还发现在14%的肿瘤中mTOR(雷帕霉素的哺乳动物靶标)途径的基因突变,这种发现可能用于分层患者用mTOR抑制剂治疗。