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J Mol Med (Berl). 1999 Sep;77(9):686-9.

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

Author information

1
Nursing Military Academy, Laboratory of Research, Athens, Greece. patrinos@ch1.ffg.eur.nl

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.

PMID:
10569206
[Indexed for MEDLINE]

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