title: An intronic deletion in TP53 gene causes exon 6 skipping in breast cancer.
abstract: Six hundred and thirty primary breast cancer were screened for abnormalities in exons 5, 6, 7 and 8 of the TP53 tumour suppressor gene. Analysis of the structure of the TP53 gene exons was performed with the polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) method and with direct sequencing of amplified DNA. In a breast tumour case from a postmenopausal patient, we found a deletion of 36 bp in intron 5 and no immunohistochemical staining for p53. We amplified and sequenced the cDNA region between exons 4 and 7 and showed that the deletion causes the skipping of exon 6. The resulting mRNA sequence had a frameshift that yields an inactive protein with a truncated C terminus. These results show the first example of intronic deletion causing exon skipping at the TP53 gene level.
authors.affiliation: Department of Clinical Pathology, Ospedale Sant' Anna, Turin, Italy.
authors.forename: G
authors.initials: G
authors.lastname: Voglino
authors.forename: S
authors.initials: S
authors.lastname: Castello
authors.forename: L
authors.initials: L
authors.lastname: Silengo
authors.forename: G
authors.initials: G
authors.lastname: Stefanuto
authors.forename: O
authors.initials: O
authors.lastname: Friard
authors.forename: G
authors.initials: G
authors.lastname: Ferrara
authors.forename: L
authors.initials: L
authors.lastname: Fessia
mesh_terms: D001483:Base Sequence; D001943:Breast Neoplasms / Q000235:genetics*; D004252:DNA Mutational Analysis; D004273:DNA, Neoplasm / Q000235:genetics; D004587:Electrophoresis, Agar Gel; D005091:Exons / Q000235:genetics*; D005260:Female; D017353:Gene Deletion; D016158:Genes, p53; D006801:Humans; D007438:Introns / Q000235:genetics*; D008969:Molecular Sequence Data
chemical_list: D004273:DNA, Neoplasm