公开(公告)号：EP3360979A1

公开(公告)日：2018-08-15

申请号：EP18164632.4

申请日：2014-02-18

申请人： Duke University ,  The Johns Hopkins University

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

IPC分类号： C12Q1/6886 ,  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 (

公开(公告)号：EP3266879A1

公开(公告)日：2018-01-10

申请号：EP17168866.6

申请日：2009-09-03

申请人： The Johns Hopkins University ,  Duke University

发明人： VOGELSTEIN, Bert ,  KINZLER, Kenneth ,  PAPADOPOULOS, Nickolas ,  VELCULESCU, Victor ,  PARMIGIANI, Giovanni ,  KARCHIN, Rachel ,  JONES, Sian ,  YAN, Hai ,  BIGNER, Darell ,  KUAN, Chien-Tsun ,  RIGGINS, Gregory ,  PARSONS, Williams ,  ZHANG, Xiaosong ,  LIN, Jimmy Cheng-Ho ,  LEARY, Rebecca ,  ANGENENDT, Philipp

IPC分类号： C12Q1/68

CPC分类号： C12Q1/6886 ,  C12Q2600/112 ,  C12Q2600/118 ,  C12Q2600/136 ,  C12Q2600/156

摘要： We found mutations of the R132 residue of isocitrate dehydrogenase 1 (IDH1) in the majority of grade II and III astrocytomas and oligodendrogliomas as well as in glioblastomas that develop from these lower grade lesions. Those tumors without mutations in IDH1 often had mutations at the analogous R172 residue of the closely related IDH2 gene. These findings have important implications for the pathogenesis and diagnosis of malignant gliomas.

摘要翻译： 我们在大多数II级和III级星形细胞瘤以及少突胶质细胞瘤以及从这些低级病变发展而来的胶质母细胞瘤中发现异柠檬酸脱氢酶1（IDH1）的R132残基突变。 没有IDH1突变的那些肿瘤通常在密切相关的IDH2基因的类似R172残基处具有突变。 这些发现对于恶性神经胶质瘤的发病机制和诊断具有重要意义。

公开(公告)号：EP3266879B1

公开(公告)日：2019-07-03

申请号：EP17168866.6

申请日：2009-09-03

申请人： The Johns Hopkins University ,  Duke University

发明人： VOGELSTEIN, Bert ,  KINZLER, Kenneth ,  PAPADOPOULOS, Nickolas ,  VELCULESCU, Victor ,  PARMIGIANI, Giovanni ,  KARCHIN, Rachel ,  JONES, Sian ,  YAN, Hai ,  BIGNER, Darell ,  KUAN, Chien-Tsun ,  RIGGINS, Gregory ,  PARSONS, Williams ,  ZHANG, Xiaosong ,  LIN, Jimmy Cheng-Ho ,  LEARY, Rebecca ,  ANGENENDT, Philipp

IPC分类号： C12Q1/68

公开(公告)号：EP3296407A1

公开(公告)日：2018-03-21

申请号：EP17197306.8

申请日：2005-02-18

申请人： The Johns Hopkins University

发明人： SAMUELS, Yardena ,  VELCULESCU, Victor ,  KINZLER, Kenneth ,  VOGELSTEIN, Bert

IPC分类号： C12Q1/68

CPC分类号： C12Q1/6886 ,  C12Q2600/156

摘要： Phosphatidylinositol 3-kinases (PI3Ks) are known to be important regulators of signaling pathways. To determine whether PI3Ks are genetically altered in cancers, we analyzed the sequences of the P13K gene family and discovered that one family member, PIK3CA, is frequently mutated in cancers of the colon and other organs. The majority of mutations clustered near two positions within the P13K helical or kinase domains. PIK3CA represents one of the most highly mutated oncogenes yet identified in human cancers and is useful as a diagnostic and therapeutic target.

摘要翻译： 已知磷脂酰肌醇3-激酶（PI3K）是信号传导途径的重要调节剂。 为了确定PI3K是否在癌症中被遗传改变，我们分析了P13K基因家族的序列并发现一个家族成员PIK3CA在结肠和其他器官的癌症中经常发生突变。 大部分突变聚集在P13K螺旋或激酶结构域内的两个位置附近。 PIK3CA代表人类癌症中鉴定的突变最严重的癌基因之一，并且可用作诊断和治疗靶标。

公开(公告)号：EP3296407B1

公开(公告)日：2019-05-22

申请号：EP17197306.8

申请日：2005-02-18

申请人： The Johns Hopkins University

发明人： SAMUELS, Yardena ,  VELCULESCU, Victor ,  KINZLER, Kenneth ,  VOGELSTEIN, Bert

IPC分类号： C12Q1/6886

公开(公告)号：EP3125938A1

公开(公告)日：2017-02-08

申请号：EP15773992.1

申请日：2015-03-31

申请人： The Johns Hopkins University ,  Biomed Valley Discoveries, Inc.

发明人： ZHOU, Shibin ,  VOGELSTEIN, Bert ,  KINZLER, Kenneth ,  KIM, Kibem ,  SAHA, Saurabh

IPC分类号： A61K39/395 ,  A61K35/74 ,  A61P35/00

CPC分类号： A61K35/744 ,  A61K9/0019 ,  A61K35/74 ,  A61K35/742 ,  A61K39/3955 ,  A61K39/39558 ,  A61K2035/115 ,  A61K2039/505 ,  A61K2039/54 ,  A61K2039/545 ,  C07K16/2803 ,  C07K16/2818 ,  A61K2300/00

摘要： The presently disclosed subject matter provides methods and kits for treating solid tumors in a subject by using a combination of anti-CTLA-4 and/or anti-PD-1 antibodies with at least one member of the group consisting of a bacterium, bacterial product, and an immunoregulatory entity. In particular embodiments, the bacteria are toxin-depleted, anaerobic bacteria, such as Clostridium novyi-NT.

摘要翻译： 当前盘游离缺失的主题通过使用抗CTLA-4和/或抗PD-1抗体与组由细菌中的至少一个构件，细菌产物的组合提供用于在受试者中治疗实体瘤的方法和试剂盒 和免疫调节实体。 在具体实施方案中，细菌是毒素耗尽，厌氧细菌，梭菌属诺氏：如NT。

公开(公告)号：EP3907299A1

公开(公告)日：2021-11-10

申请号：EP21173115.3

申请日：2012-04-12

申请人： The Johns Hopkins University

发明人： VOGELSTEIN, Bert ,  KINZLER, Kenneth ,  PAPADOPOULOS, Nickolas ,  KINDE, Isaac

IPC分类号： C12Q1/6874 ,  C12N15/11 ,  C12Q1/6806

摘要： The identification of mutations that are present in a small fraction of DNA templates is essential for progress in several areas of biomedical research. Though massively parallel sequencing instruments are in principle well-suited to this task, the error rates in such instruments are generally too high to allow confident identification of rare variants. We here describe an approach that can substantially increase the sensitivity of massively parallel sequencing instruments for this purpose. One example of this approach, called "Safe-SeqS" for (Safe-Sequencing System) includes (i) assignment of a unique identifier (UID) to each template molecule; (ii) amplification of each uniquely tagged template molecule to create UID-families; and (iii) redundant sequencing of the amplification products. PCR fragments with the same UID are truly mutant ("super-mutants") if =95% of them contain the identical mutation. We illustrate the utility of this approach for determining the fidelity of a polymerase, the accuracy of oligonucleotides synthesized in vitro, and the prevalence of mutations in the nuclear and mitochondrial genomes of normal cells.

公开(公告)号：EP0981644B1

公开(公告)日：2003-05-14

申请号：EP98903558.9

申请日：1998-01-21

申请人： THE JOHNS HOPKINS UNIVERSITY

发明人： LAKEN, Steve ,  GRUBER, Stephen ,  PETERSEN, Gloria ,  KINZLER, Kenneth ,  VOGELSTEIN, Bert

IPC分类号： C12Q1/68 ,  G01N33/574

CPC分类号： G01N33/574 ,  C12Q1/6886 ,  C12Q2600/156 ,  G01N33/57419 ,  Y10S435/81 ,  Y10S436/813

摘要： During routine screening of a patient with a family history of colorectal cancer for truncating APC mutations, a novel missence mutation was identified. Upon further evaluation, it was found that 6 % of Ashkenazi Jews carry this mutation, and that it was present in ∩20 % of Ashkenazis with a family history of CRC. Probes, methods, and kits for identifying individuals affected with this missense mutation are provided.

公开(公告)号：EP0828830A1

公开(公告)日：1998-03-18

申请号：EP96916657.0

申请日：1996-05-22

申请人： THE JOHNS HOPKINS UNIVERSITY

发明人： VOGELSTEIN, Bert ,  KINZLER, Kenneth

IPC分类号： G01N33 ,  C07K14 ,  C07K16 ,  C12N1 ,  C12N15 ,  C12P21 ,  C12Q1 ,  A61K38

CPC分类号： C07K14/47 ,  A61K38/00 ,  C07K2319/00

摘要： Inactivation of the APC tumor suppressor gene plays an important role in the development of both sporadic and familial forms of colorectal cancers. The majority of these mutations result in the loss of the carboxyl terminus of the APC protein. A cellular protein, EB1, that associates with the carboxyl terminus of APC both in vitro and in vivo has been identified. The EB1 gene is predicted to encode a 268 amino acid protein without significant homology to any protein with known function.

公开(公告)号：EP4278012A1

公开(公告)日：2023-11-22

申请号：EP22740108.0

申请日：2022-01-14

申请人： CASE WESTERN RESERVE UNIVERSITY ,  The Johns Hopkins University

发明人： MARKOWITZ, Sanford ,  CHAK, Amitabh ,  WILLIS, Joseph ,  MOINOVA, Helen ,  VOGELSTEIN, Bert ,  KINZLER, Kenneth ,  PAPADOPOULOS, Nickolas ,  BETTEWGOWDA, Chetan ,  DOUVILLE, Christopher

IPC分类号： C12Q1/6883 ,  C12Q1/6844 ,  C12Q1/6869