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    Identification of a rare polymorphism in the human TP53 promoter.

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    Authors
    Attwooll, Claire L
    McGown, Gail
    Thorncroft, Mary R
    Stewart, Fiona J
    Birch, Jillian M
    Varley, Jennifer
    Affiliation
    CRC Department of Cancer Genetics, Paterson Institute for Cancer Research, Manchester, UK. cattwooll@deosrv.lar.ieo.it
    Issue Date
    2002-06
    
    Metadata
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    Abstract
    The majority of families with classic Li-Fraumeni Syndrome (LFS) and a significant proportion of Li-Fraumeni-like (LFL) families have a germline mutation in the TP53 tumor suppressor gene. However around 20% of LFS and 60% of LFL families have no identifiable genetic defect in the coding region or splice junctions of TP53, and the genetic basis for cancer susceptibility in these families remains largely uncharacterized. To determine whether promoter mutations could be responsible for the Li-Fraumeni phenotype, we sequenced the TP53 promoter in index cases from members of classic LFS and LFL families without detectable TP53 mutations. We identified an identical single nucleotide deletion within the C/EBP- like site of the promoter in two out of eighteen such families (11%), compared to only one of a total of 366 control samples (0.3%). Although this result is highly significant (P=0.006, Fischer's exact test), the mutation did not affect the expression of TP53 in our hands. We provide evidence that this site is not utilized in the wild type TP53 promoter and further, that mutation of this site in LFS/LFL does not have a functional effect. We conclude that the sequence variant is a rare polymorphism arising within the TP53 promoter. However, the significantly increased frequency of this variant in LFS/LFL remains intriguing.
    Citation
    Identification of a rare polymorphism in the human TP53 promoter. 2002, 135 (2):165-72 Cancer Genet. Cytogenet.
    Journal
    Cancer Genetics and Cytogenetics
    URI
    http://hdl.handle.net/10541/82435
    DOI
    10.1016/S0165-4608(01)00649-5
    PubMed ID
    12127401
    Type
    Article
    Language
    en
    ISSN
    0165-4608
    ae974a485f413a2113503eed53cd6c53
    10.1016/S0165-4608(01)00649-5
    Scopus Count
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    All Paterson Institute for Cancer Research

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