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    A previously undescribed mutation within the tetramerisation domain of TP53 in a family with Li-Fraumeni syndrome.

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    Authors
    Varley, Jennifer
    McGown, Gail
    Thorncroft, Mary R
    Cochrane, S
    Morrison, P
    Woll, Penella J
    Kelsey, Anna M
    Mitchell, Erika L D
    Boyle, John M
    Birch, Jillian M
    Evans, D Gareth R
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    Affiliation
    CRC Department of Cancer Genetics, Paterson Institute for Cancer Research, Manchester, UK.
    Issue Date
    1996-06-06
    
    Metadata
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    Abstract
    We report details of a family with classic Li-Fraumeni syndrome in which there is a mutation in codon 344 of the tumour suppressor gene TP53. Codon 344 is a key residue within the tetramerisation domain, and the amino acid substitution of a proline for a leucine is predicted to have profound implications for tetramerisation and potentially DNA binding. This is the first report of a mutation at this residue in either sporadic tumours or in the germline and the first report of a germline mutation within the tetramerisation domain. The family does not appear to be remarkable in the spectrum of tumours, and there is loss of the wild-type allele in a leiomyosarcoma from the proband. A cell line has been established from the tumour of the proband and cytogenetic and molecular studies carried out, providing an extensive analysis in this family.
    Citation
    A previously undescribed mutation within the tetramerisation domain of TP53 in a family with Li-Fraumeni syndrome. 1996, 12 (11):2437-42 Oncogene
    Journal
    Oncogene
    URI
    http://hdl.handle.net/10541/95535
    PubMed ID
    8649785
    Type
    Article
    Language
    en
    ISSN
    0950-9232
    Collections
    All Paterson Institute for Cancer Research

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