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    • 4. 发明申请
    • PREDICTION OF CANCER BY DETECTION OF ATM MUTATIONS
    • 通过检测ATM突变预测癌症
    • WO2003025203A2
    • 2003-03-27
    • PCT/US2002/030015
    • 2002-09-20
    • QUARK BIOTECH, INC.GILAD, ShlomitYAHALOM, Joachim
    • GILAD, ShlomitYAHALOM, Joachim
    • C12Q
    • C12Q1/6827C12Q1/6886C12Q2600/156
    • 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.
    • 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。