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    Heterozygous germ line hCHK2 mutations in Li-Fraumeni syndrome.

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    Authors
    Bell, D W
    Varley, Jennifer
    Szydlo, T E
    Kang, D H
    Wahrer, D C
    Shannon, K E
    Lubratovich, M
    Verselis, S J
    Isselbacher, K J
    Fraumeni, J F
    Birch, Jillian M
    Li, F P
    Garber, J E
    Haber, Daniel A
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    Affiliation
    Massachusetts General Hospital Center for Cancer Risk Analysis and Harvard Medical School, Building 149, Charlestown, MA 02129, USA.
    Issue Date
    1999-12-24
    
    Metadata
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    Abstract
    The hCHK2 gene encodes the human homolog of the yeast Cds1 and Rad53 G2 checkpoint kinases, whose activation in response to DNA damage prevents cellular entry into mitosis. Here, it is shown that heterozygous germ line mutations in hCHK2 occur in Li-Fraumeni syndrome, a highly penetrant familial cancer phenotype usually associated with inherited mutations in the TP53 gene. These observations suggest that hCHK2 is a tumor suppressor gene conferring predisposition to sarcoma, breast cancer, and brain tumors, and they also provide a link between the central role of p53 inactivation in human cancer and the well-defined G2 checkpoint in yeast.
    Citation
    Heterozygous germ line hCHK2 mutations in Li-Fraumeni syndrome. 1999, 286 (5449):2528-31 Science
    Journal
    Science
    URI
    http://hdl.handle.net/10541/90782
    DOI
    10.1126/science.286.5449.2528
    PubMed ID
    10617473
    Type
    Article
    Language
    en
    ISSN
    0036-8075
    ae974a485f413a2113503eed53cd6c53
    10.1126/science.286.5449.2528
    Scopus Count
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    All Paterson Institute for Cancer Research

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