利索-全球专利检索

  1. 登录
  2. 注册

搜索结果

48 条记录 (耗时 0.017 秒)

    OLIGODENDROGLIOMA DRIVER GENES
    3.
    发明授权
    OLIGODENDROGLIOMA DRIVER GENES 有权
    OLIGODENDROGLIOM-TREIBERGENE

    公开(公告)号：EP2734644B1

    公开(公告)日：2016-12-21

    申请号：EP12814956.4

    申请日：2012-07-18

    申请人： The Johns Hopkins University ,  Duke University

    发明人： VOGELSTEIN, Bert ,  KINZLER, Kenneth W. ,  BETTEGOWDA, Chetan ,  AGRAWAL, Nishant ,  PAPADOPOULOS, Nickolas ,  BIGNER, Darell ,  YAN, Hai ,  MCLENDON, Roger

    IPC分类号： C12Q1/68 ,  A61K39/00

    CPC分类号： C12Q1/6886 ,  C12Q2600/106 ,  C12Q2600/112 ,  C12Q2600/118 ,  C12Q2600/156 ,  C12Q2600/158

    摘要： Oligodendrogliomas are the second most common malignant brain tumor in adults. These tumors often contain a chromosomal abnormality involving a pericentromeric fusion of chromosomes 1 and 19, resulting in losses of the entire short arm of the former and the long arm of the latter. To identify the molecular genetic basis for this alteration, we performed exomic sequencing of seven anaplastic oligodendrogliomas with chromosome 1p and 19q losses. Among other changes, we found that that CIC (homolog of the Drosophila gene capicua) on chromosome 19q was somatically mutated in six of the seven cases and that FUBP1 (far upstream element (FUSE) binding protein) on chromosome 1p was somatically mutated in two of the seven cases. Examination of 27 additional oligodendrogliomas revealed 12 and 3 more tumors with mutations of CIC and FUBP1, respectively, 58% of which were predicted to result in truncations of the encoded proteins. These results suggest a critical role for these genes in the biology and pathology of oligodendrocytes.

    摘要翻译： 少突胶质瘤是成人中第二常见的恶性脑肿瘤。 这些肿瘤通常含有染色体异常，涉及染色体1和染色体1的周期性融合，导致前者的整个短臂和后者的长臂的损失。 为了鉴定这一改变的分子遗传基础，我们对染色体1p和19q损失进行了7个分离性少突胶质细胞瘤的外切测序。 在其他变化中，我们发现在七种病例中的六种中，染色体19q上的CIC（果蝇基因capicua的同系物）被体细胞突变，并且染色体1p上的FUBP1（远上游元件（FUSE）结合蛋白）在两个体系中被体细胞突变 的七例。 另外27例少突胶质细胞瘤的检查显示，分别有12例和3例具有CIC和FUBP1突变的肿瘤，其中58％预计会导致编码蛋白的截短。 这些结果表明这些基因在少突胶质细胞的生物学和病理学中的关键作用。

    TERT PROMOTER MUTATIONS IN GLIOMAS AND A SUBSET OF TUMORS
    7.
    发明公开
    TERT PROMOTER MUTATIONS IN GLIOMAS AND A SUBSET OF TUMORS 审中-公开
    在胶质瘤TERT启动子突变和部分量的肿瘤

    公开(公告)号：EP2956556A1

    公开(公告)日：2015-12-23

    申请号：EP14751900.3

    申请日：2014-02-18

    申请人： Duke University ,  The Johns Hopkins University

    发明人： YAN, Hai ,  VOGELSTEIN, Bert ,  PAPADOPOULOS, Nickolas ,  KINZLER, Kenneth W. ,  JIAO, Yuchen ,  BETTEGOWDA, Chetan ,  BIGNER, Darell D.

    IPC分类号： C12Q1/68 ,  C12N15/12

    CPC分类号： C12Q1/6886 ,  C12Q2600/112 ,  C12Q2600/156

    摘要： We surveyed 1,230 tumors of 60 different types and found that tumors could be divided into types with low ( TERT promoter mutations. The nine TERT-high tumor types almost always originated in tissues with relatively low rates of self renewal, including melanomas, liposarcomas, hepatocellular carcinomas, urothelial carcinomas, squamous cell carcinomas of the tongue, medulloblastomas, and subtypes of gliomas (including 83% of primary glioblastoma, the most common brain tumor type).
    TERT and
    ATRX mutations were mutually exclusive, suggesting that these two genetic mechanisms confer equivalent selective growth advantages. In addition to their implications for understanding the relationship between telomeres and tumorigenesis,
    TERT mutations provide a biomarker for the early detection of urinary tract and liver tumors and aid in the classification and prognostication of brain tumors.

    MUTATIONS IN PANCREATIC NEOPLASMS
    10.
    发明公开
    MUTATIONS IN PANCREATIC NEOPLASMS 有权
    PANKREAS-NEOPLASMEN中的突变体

    公开(公告)号：EP2723896A2

    公开(公告)日：2014-04-30

    申请号：EP12802288.6

    申请日：2012-06-22

    申请人： The Johns Hopkins University

    发明人： VOGELSTEIN, Bert ,  KINZLER, Kenneth W. ,  WU, Jian ,  DIAZ, Luis ,  PAPADOPOULOS, Nickolas ,  MATTHAEI, Hanno ,  HRUBAN, Ralph ,  MAITRA, Anirban

    IPC分类号： C12Q1/68 ,  C12N15/11

    CPC分类号： C12Q1/6886 ,  C12Q2600/112 ,  C12Q2600/156

    摘要： To help reveal the pathogenesis of these lesions, we purified the DNA from Intraductal Papillary Mucinous Neoplasm (IPMN) cyst fluids from 19 patients and searched for mutations in 169 genes commonly altered in human cancers. We identified recurrent mutations at codon 201 of GNAS. We found that GNAS mutations were present in 66% of IPMNs and that either KRAS or GNAS mutations could be identified in 96%. In eight cases, we could investigate invasive adenocarcinomas that developed in association with IPMNs containing GNAS mutations. In seven of these eight cases, the GNAS mutations present in the IPMNs were also found in the invasive lesion. GNAS mutations were not found in other types of cystic neoplasms of the pancreas or in invasive adenocarcinomas not associated with IPMNs. These data suggest that GNAS mutations can inform the diagnosis and management of patients with cystic pancreatic lesions.

    摘要翻译： 为了揭示这些病变的发病机制，我们从19名患者的导管内乳头状粘液性肿瘤（IPMN）囊肿液中纯化了DNA，并在人类癌症中通常改变的169种基因中进行了突变检测。 我们在GNAS的201号密码子处鉴定了复发性突变。 我们发现GNAS突变存在于66％的IPMNs中，KRAS或GNAS突变可以在96％中鉴定。 在8例中，我们可以研究与含有GNAS突变的IPMN相关的侵袭性腺癌。 在这8例中有7例中，存在于IPMNs中的GNAS突变也在侵袭性损伤中发现。 在其他类型的胰腺囊性肿瘤或与IPMN无关的侵袭性腺癌中未发现GNAS突变。 这些数据表明，GNAS突变可以为囊性胰腺病变患者的诊断和治疗提供依据。