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    Cancer phenotype correlates with constitutional TP53 genotype in families with the Li-Fraumeni syndrome.

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    Authors
    Birch, Jillian M
    Blair, Val
    Kelsey, Anna M
    Evans, D Gareth R
    Harris, Martin
    Tricker, K J
    Varley, Jennifer
    Affiliation
    CRC Paediatric and Familial Cancer Research Group and Department of Histopathology, Royal Manchester Children's Hospital, UK.
    Issue Date
    1998-09-03
    
    Metadata
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    Abstract
    The Li-Fraumeni cancer predisposition syndrome is associated with germline TP53 mutations in the majority of families. We have investigated cancer incidence in 34 Li-Fraumeni families, according to their constitutional TP53 mutation status. Families with germline missense mutations in the core DNA binding domain showed a more highly penetrant cancer phenotype than families with other TP53 mutations or no mutation. Cancer phenotype in families carrying such mutations was characterized by a higher cancer incidence and earlier ages at diagnosis, especially of breast cancer and brain tumours, compared with families carrying protein truncating or other inactivating mutations (P=0.03 for all cancers, P=0.006 for breast cancers, P=0.05 for brain tumours). Proband cancers showed significantly younger ages at diagnosis in those with missense mutations in the DNA binding domain than in those with protein inactivating mutations (P=0.031). In individuals with the former type of mutation, there was a significantly lower proportion of tumours which showed loss of the wild-type TP53 allele (P=0.004). These results are consistent with observations in experimental systems which demonstrate that certain mutations exhibit gain of function and/or dominant-negative properties. Our results support an enhanced oncogenic potential for such mutations in human populations.
    Citation
    Cancer phenotype correlates with constitutional TP53 genotype in families with the Li-Fraumeni syndrome. 1998, 17 (9):1061-8 Oncogene
    Journal
    Oncogene
    URI
    http://hdl.handle.net/10541/92046
    DOI
    10.1038/sj.onc.1202033
    PubMed ID
    9764816
    Type
    Article
    Language
    en
    ISSN
    0950-9232
    ae974a485f413a2113503eed53cd6c53
    10.1038/sj.onc.1202033
    Scopus Count
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    All Christie Publications
    All Paterson Institute for Cancer Research

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