PubMed · 1991 · 228 citations · 24 references
MedicineGeneticsOncologyCancer GeneticsMolecular OncologyNeuro-oncologyBrain TumorsCancer GenomicsCentral Nervous System TumorsMalignant NeoplasmsNeuro-oncologic PathologyTumor Suppressor GenesBrain Tumor PathologyOligodendroglioma PathologyP53 MutationSingle-strand Conformation PolymorphismTp53 MutationsTumor Suppressor Gene AlterationsTumor Suppressor Gene MutationsTumor Suppressor P53
Genomic DNA from 51 primary human brain tumors was screened for the presence of mutations in the tumor suppressor gene, p53, using the polymerase chain reaction and single strand conformation polymorphism analysis, followed by direct DNA sequencing. Mutations leading to an amino acid change were found in 2 of 17 (12%) oligodendrogliomas and 2 of 19 (11%) medulloblastomas but none of 15 ependymomas. Sites of mutations were in exon 5 (codon 141), exon 6 (codon 193 and 213), and exon 7 (codon 246). In addition, there were silent mutations in exon 6 (codon 213) in one oligodendroglioma and in one ependymoma. This study points to the possible role of the p53 tumor suppressor gene in some central nervous system neoplasms of divergent histogenesis.
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Germ Line p53 Mutations in a Familial Syndrome of Breast Cancer, Sarcomas, and Other Neoplasms
David Malkin, Frederick P. Li, Louise C. Strong et al. · Science · 1990 · 3.8K citations
Life Sciences, Genetics, Oncology +17
Mutations in the p53 gene occur in diverse human tumour types
Janice Nigro, Suzanne J. Baker, Antonette C. Preisinger et al. · Nature · 1989 · 2.8K citations · Full text