BREAST CANCER SUSCEPTIBILITY GENE GT198 AND USES THEREOF
    1.
    发明公开
    BREAST CANCER SUSCEPTIBILITY GENE GT198 AND USES THEREOF 有权
    乳腺癌易感基因GT198及其用途

    公开(公告)号:EP2421991A1

    公开(公告)日:2012-02-29

    申请号:EP10719454.0

    申请日:2010-04-19

    发明人: KO, Lan

    IPC分类号: C12Q1/68

    摘要: It has been discovered that the human GT198 gene (gene symbol PSMC3IP) at chromosome 17q21 acts as a tumor suppressor. The mutation of the GT198 gene causes the increased dominant negative splice variant activity and leads to the loss of wild type GT198 function, and in turn, induces breast and ovarian cancers. One embodiment provides compositions and methods for treating or alleviating one or more symptoms associated with cancer due to the GT198 gene mutations. Another embodiment provides methods and compositions for detecting cancer due to the mutation of the GT198 gene. Still another embodiment provides methods for identifying compounds, antibodies and natural product molecules that are useful for treating cancer due to the mutations of the GT198 gene. Preferably the disclosed compositions antagonize or interfere with the biological activity of splice variants of GT198.