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Splice mutations in the p53 gene: case report and review of the literature

✍ Scribed by R. Holmila; C. Fouquet; J. Cadranel; G. Zalcman; T. Soussi

Publisher: John Wiley and Sons
Year: 2002
Tongue: English
Weight: 138 KB
Volume: 21
Category: Article
ISSN: 1059-7794
DOI: 10.1002/humu.9104

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✦ Synopsis

Splice mutations in the p53 gene (TP53) are described as rare events that occur at a frequency of less than 1%. Using a functional assay based on the transcriptional activity of p53 and using RNA as starting material, we describe here a p53 splice mutation that could not be detected by genomic sequencing. This lack of detection is due to a deletion of the region complementary to primers commonly used for amplification. Reviewing the literature, we show that p53 splice mutations have been certainly underestimated and that careful strategy should be used for a complete mutational analysis of the p53 gene. Furthermore, some p53 gene mutations described as "neutral" due to the absence of any amino-acid change are truly deleterious, as they affect gene splicing.

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