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1. 发明申请

WO03025203A3 PREDICTION OF CANCER BY DETECTION OF ATM MUTATIONS 审中-公开
标题翻译：通过检测ATM突变预测癌症
公开(公告)号：WO03025203A3
公开(公告)日：2003-05-22
申请号：PCT/US0230015
申请日：2002-09-20
申请人： QUARK BIOTECH INC , GILAD SHLOMIT , YAHALOM JOACHIM
发明人： GILAD SHLOMIT , YAHALOM JOACHIM
IPC分类号： C12Q1/68 , C07H21/04
CPC分类号： C12Q1/6827 , C12Q1/6886 , C12Q2600/156
摘要： There is provided a method of testing a subject to determine if the subject has a predisposition for developing a cancer, a cancer of epithelial origin such as lung cancer, colon cancer, prostate cancer, ovarian cancer, bladder cancer, and cancer of the pancreas, and also a lymphoproliferative malignancy such as Hodgkin's disease and non-Hodgkin's lymphoma. This method includes the steps of detecting a mutation in the open reading frame of the ATM gene SEQ.ID.NO:1 in a cDNA sample or a genomic DNA sample from the subject, which mutation is selected from the group consisting of the mutations set forth in Table 3 and Table 4 or, detecting a mutation in the mRNA corresponding to the open reading frame of the ATM gene SEQ.ID.NO:1 in a mRNA sample from the subject, which mutation is selected from the group consisting of RNA complementary to the mutations set forth in Table 3 and Table 4, wherein the presence of such a mutation indicates that the subject has a predisposition for developing cancer. Also provided is an isolated cDNA molecules, oligonucleotide probes, and kits for detection and prediction of cancer.
摘要翻译：提供了一种测试受试者以确定受试者是否具有发展癌症，上皮来源癌症如肺癌，结肠癌，前列腺癌，卵巢癌，膀胱癌和胰腺癌的倾向的方法，以及淋巴增生性恶性肿瘤如霍奇金病和非霍奇金淋巴瘤。该方法包括检测cDNA样品中的ATM基因SEQ.ID.NO:1的开放阅读框中的突变或来自受试者的基因组DNA样品中的突变，该突变选自突变组在表3和表4中，或者检测来自受试者的mRNA样品中与ATM基因SEQ ID NO：1的开放阅读框相对应的mRNA的突变，该突变选自RNA 与表3和表4所示的突变互补，其中这种突变的存在表明受试者具有发生癌症的倾向。还提供了分离的cDNA分子，寡核苷酸探针和用于癌症的检测和预测的试剂盒。

2. 发明申请

WO2003025203A2 PREDICTION OF CANCER BY DETECTION OF ATM MUTATIONS 审中-公开
标题翻译：通过检测ATM突变预测癌症
公开(公告)号：WO2003025203A2
公开(公告)日：2003-03-27
申请号：PCT/US2002/030015
申请日：2002-09-20
申请人： QUARK BIOTECH, INC. , GILAD, Shlomit , YAHALOM, Joachim
发明人： GILAD, Shlomit , YAHALOM, Joachim
IPC分类号： C12Q
CPC分类号： C12Q1/6827 , C12Q1/6886 , C12Q2600/156
摘要： There is provided a method of testing a subject to determine if the subject has a predisposition for developing a cancer, a cancer of epithelial origin such as lung cancer, colon cancer, prostate cancer, ovarian cancer, bladder cancer, and cancer of the pancreas, and also a lymphoproliferative malignancy such as Hodgkin's disease and non-Hodgkin's lymphoma. This method includes the steps of detecting a mutation in the open reading frame of the ATM gene (SEQ.ID.NO:1) in a cDNA sample or a genomic DNA sample from the subject, which mutation is selected from the group consisting of the mutations set forth in Table 3 and Table 4; or, detecting a mutation in the mRNA corresponding to the open reading frame of the ATM gene (SEQ.ID.NO:1) in a mRNA sample from the subject, which mutation is selected from the group consisting of RNA complementary to the mutations set forth in Table 3 and Table 4, wherein the presence of such a mutation indicates that the subject has a predisposition for developing cancer. Also provided is an isolated cDNA molecule having a nucleotide sequence which differs from the sequence set forth in SEQ.ID.NO:1 by a mutation selected from the group consisting of mutations 378 T→A, 3383 A→G, 1636 C→G, 2614 C→T, 6437 G→C, 2932 T→C, 2289 T→A, 6096 A→T, 6176 C→T, 6919 C→T, 2442 C→A, 3925 G→A, 6067 G→A, 2119 T→C, 1810 C→T, and 4388 T→G. An oligonucleotide probe which is capable of detecting a mutation in the open reading frame of the ATM gene is also provided. Additionally, kits for detection and prediction of cancer are provided.
摘要翻译：提供了一种测试受试者以确定受试者是否具有发展癌症，上皮来源癌症如肺癌，结肠癌，前列腺癌，卵巢癌，膀胱癌和胰腺癌的倾向的方法，以及淋巴增生性恶性肿瘤如霍奇金病和非霍奇金淋巴瘤。该方法包括检测cDNA样品中的ATM基因（SEQ ID NO：1）的开放阅读框中的突变或来自受试者的基因组DNA样品中的突变，所述突变选自表3和表4所示的突变; 或者检测来自受试者的mRNA样品中与ATM基因（SEQ ID NO：1）的开放阅读框相对应的mRNA的突变，该突变选自与突变组互补的RNA 在表3和表4中，其中存在这样的突变表明受试者具有发生癌症的倾向。还提供了具有与SEQ.ID.NO:1所示序列不同的核苷酸序列的分离的cDNA分子，其选自突变378T} A，3383A} G，1636C} G ，2614 C} T，6437 G} C，2932 T} C，2289 T} A，6096 A} T，6176 C} T，6919 C} T，2442 C} A，3925 G} A，6067 G} A ，2119 T} C，1810 C} T和4388 T} G。还提供了能够检测ATM基因的开放阅读框中的突变的寡核苷酸探针。此外，还提供了用于癌症检测和预测的试剂盒。

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