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    Characterization of germline TP53 splicing mutations and their genetic and functional analysis.

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    Authors
    Varley, Jennifer
    Attwooll, Claire L
    White, Gavin R M
    McGown, Gail
    Thorncroft, Mary R
    Kelsey, Anna M
    Greaves, Martin J
    Boyle, John M
    Birch, Jillian M
    Affiliation
    CRC Cancer Genetics Group, Paterson Institute for Cancer Research, Wilmslow Road, Manchester M20 4BX, UK.
    Issue Date
    2001-05-10
    
    Metadata
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    Abstract
    Germline TP53 splicing mutations have been described infrequently (>2%) in the literature, however in a series of 40 patients and families identified by our group in which there are germline TP53 mutations, seven affect splicing (18%). The low figure reported in the literature might reflect the method of mutation detection, which in many studies does not include all splice junctions. These data indicate that a significant proportion of TP53 germline mutations are currently unrecognized. We have carried out detailed studies of the effects of the different mutations on splicing, and see distinct variations in the effects of the same mutation in different patients. Furthermore we have identified the usage of a non-consensus splice donor site in four families with an intron 4 splice donor mutation.
    Citation
    Characterization of germline TP53 splicing mutations and their genetic and functional analysis. 2001, 20 (21):2647-54 Oncogene
    Journal
    Oncogene
    URI
    http://hdl.handle.net/10541/85501
    DOI
    10.1038/sj.onc.1204369
    PubMed ID
    11420676
    Type
    Article
    Language
    en
    ISSN
    0950-9232
    ae974a485f413a2113503eed53cd6c53
    10.1038/sj.onc.1204369
    Scopus Count
    Collections
    All Paterson Institute for Cancer Research

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