title: A novel 23-bp deletion in exon 5 of the p53 tumor suppressor gene.
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.
authors.affiliation: Nursing Military Academy, Laboratory of Research, Athens, Greece. patrinos@ch1.ffg.eur.nl
authors.forename: G P
authors.initials: GP
authors.lastname: Patrinos
authors.forename: G
authors.initials: G
authors.lastname: Garinis
authors.forename: S
authors.initials: S
authors.lastname: Kounelis
authors.forename: E
authors.initials: E
authors.lastname: Kouri
authors.forename: P
authors.initials: P
authors.lastname: Menounos
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D001943:Breast Neoplasms / Q000235:genetics*; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics*; D005260:Female; D017353:Gene Deletion; D016158:Genes, p53 / Q000235:genetics*; D006801:Humans; D008875:Middle Aged; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction; D016159:Tumor Suppressor Protein p53 / Q000235:genetics* / Q000378:metabolism
chemical_list: D016159:Tumor Suppressor Protein p53