Detection of TP53 gene mutations in human sarcomas

• Published in: European journal of cancer (1990) Vol. 31; no. 5; pp. 735 - 738
• Main Authors: Castresana, J.S., Rubio, M.-P., Gómez, L., Kreicbergs, A., Zetterberg, A., Barrios, C.
• Format: Journal Article
• Language: English
• Published: England Elsevier Ltd 1995
• Subjects: Base Sequence; direct sequencing; Exons; Gene Deletion; Genes, p53 - genetics; Humans; Lipoma - genetics; Medicin och hälsovetenskap; Molecular Sequence Data; Osteosarcoma - genetics; PCR-SSCP; Point Mutation; Polymerase Chain Reaction; Polymorphism, Single-Stranded Conformational; Sarcoma - genetics; sarcomas; Sequence Analysis, DNA; TP53; tumour suppressor gene; tumour suppressor gene; direct sequencing; sarcomas; PCR-SSCP; TP53; point mutation
• ISSN: 0959-8049; 1879-0852
• DOI: 10.1016/0959-8049(95)00121-X

To determine the frequency and type of
TP53 mutations in human sarcomas, we examined exons 5–8 of the
TP53 gene in 48 sarcomas using single-strand conformation polymorphism (SSCP) analysis and direct sequencing. Nine tumours had mobility-shifts on SSCP analysis, and sequencing of six of these tumours revealed 10 mutations: one insertion, two deletions and seven point mutations (four transitions and three transversions). Four of these mutations resulted in frame-shifts, one in a truncated protein, four cases in mono-allelic point mutations and one case in an altered splice site. These data show that approximately 20% of sarcomas harbour
TP53 gene alterations and illustrate a variety of
TP53 gene mutation types.