Significance of intron 6 sequence variations in the TP53 gene in Li-Fraumeni syndrome

J. M. Varley, G. McGown, M. Thorncroft, A. M. Kelsey, J. M. Birch

    Research output: Contribution to journalArticlepeer-review


    Many polymorphisms have been reported in the TP53 gene. Some of these are within the coding region, and may affect the function of the p53 protein, others are within introns or non-coding regions, and their significance is unclear. Recently, a number of publications have claimed that polymorphisms within intron 6 are responsible for inherited predisposition to childhood malignancies, familial breast cancer, and Li-Fraumeni syndrome (LFS). We find no evidence for intron 6 sequence variants predisposing to LFS in our cohort of families and, furthermore, we show that some of the conclusions of other groups cannot be supported by data from our analysis. Copyright © 2001 Elsevier Science Inc.
    Original languageEnglish
    Pages (from-to)85-87
    Number of pages2
    JournalCancer Genetics and Cytogenetics
    Issue number1
    Publication statusPublished - 2001


    • Genes, p53
    • Genetic Predisposition to Disease
    • Humans
    • Introns
    • Li-Fraumeni Syndrome/ genetics
    • Polymorphism, Genetic


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