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    Are there low-penetrance TP53 Alleles? evidence from childhood adrenocortical tumors.

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    Authors
    Varley, Jennifer
    McGown, Gail
    Thorncroft, Mary R
    James, Louise A
    Margison, Geoffrey P
    Forster, Gill
    Evans, D Gareth R
    Harris, Martin
    Kelsey, Anna M
    Birch, Jillian M
    Affiliation
    Cancer Research Campaign, Section of Molecular Genetics, Paterson Institute for Cancer Research, Manchester, United Kingdom. jvarley@picr.man.ac.uk
    Issue Date
    1999-10
    
    Metadata
    Show full item record
    Abstract
    We have analyzed a panel of 14 cases of childhood adrenocortical tumors unselected for family history and have identified germline TP53 mutations in >80%, making this the highest known incidence of a germline mutation in a tumor-suppressor gene in any cancer. The spectrum of germline TP53 mutations detected is remarkably limited. Analysis of tumor tissue for loss of constitutional heterozygosity, with respect to the germline mutant allele and the occurrence of other somatic TP53 mutations, indicates complex sequences of genetic events in a number of tumors. None of the families had cancer histories that conformed to the criteria for Li-Fraumeni syndrome, but, in some families, we were able to demonstrate that the mutation had been inherited. In these families there were gene carriers unaffected in their 40s and 50s, and there were others with relatively late-onset cancers. These data provide evidence that certain TP53 alleles confer relatively low penetrance for predisposition to the development of cancer, and they imply that deleterious TP53 mutations may be more frequent in the population than has been estimated previously. Our findings have considerable implications for the clinical management of children with andrenocortical tumors and their parents, in terms of both genetic testing and the early detection and treatment of tumors.
    Citation
    Are there low-penetrance TP53 Alleles? evidence from childhood adrenocortical tumors. 1999, 65 (4):995-1006 Am. J. Hum. Genet.
    Journal
    American Journal of Human Genetics
    URI
    http://hdl.handle.net/10541/91399
    DOI
    10.1086/302575
    PubMed ID
    10486318
    Type
    Article
    Language
    en
    ISSN
    0002-9297
    ae974a485f413a2113503eed53cd6c53
    10.1086/302575
    Scopus Count
    Collections
    All Paterson Institute for Cancer Research

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