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A novel 23-bp deletion in exon 5 of the p53 tumor suppressor gene

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Abstract.

We report a novel p53 deletion in a 63-year-old female with breast cancer. Mutation screening of DNA samples, obtained from tumor specimens from 98 individuals with breast cancer, by a combined polymerase chain reaction–single-strand conformation polymorphism (PCR–SSCP) analysis showed that the index case had a somatic mutation identified to be a 23-bp deletion in exon 5 of the p53 gene. This deletion would be expected to yield a truncated and functionally inactive p53 protein molecule, probably resulting in cell transformation. The existence of 6-bp palindromic-like sequences encompassing the deleted fragment suggests that the slipped mispairing mechanism is not involved in producing the deletion, which probably resulted from palindromic pairing during replication.

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Patrinos, G., Garinis, G., Kounelis, S. et al. A novel 23-bp deletion in exon 5 of the p53 tumor suppressor gene. J Mol Med 77, 686–689 (1999). https://doi.org/10.1007/s001099900043

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  • DOI: https://doi.org/10.1007/s001099900043

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