title: Infrequent p53 gene mutations in medulloblastomas.
abstract: Cytogenetic and molecular studies of medulloblastomas have demonstrated frequent loss of sequences from the short arm of chromosome 17, possibly implicating loss or inactivation of the p53 tumor suppressor gene. We amplified exons 5 through 8 of the p53 gene by the polymerase chain reaction technique. These segments, which encompass the regions usually mutated in human tumors, were sequenced to search for p53 mutations in 12 medulloblastoma tumors, 8 xenografts, and 3 permanent cell lines. Mutation of the p53 gene was found in only 1 of 3 cell lines tested and in none of the xenografts or primary tumors studied. Our results suggest that p53 is mutated in an unusual way or that a second tumor suppressor gene on the short arm of chromosome 17 is involved in the pathogenesis of medulloblastoma.
authors.affiliation: Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri 63110.
authors.forename: R L
authors.initials: RL
authors.lastname: Saylors
authors.forename: D
authors.initials: D
authors.lastname: Sidransky
authors.forename: H S
authors.initials: HS
authors.lastname: Friedman
authors.forename: S H
authors.initials: SH
authors.lastname: Bigner
authors.forename: D D
authors.initials: DD
authors.lastname: Bigner
authors.forename: B
authors.initials: B
authors.lastname: Vogelstein
authors.forename: G M
authors.initials: GM
authors.lastname: Brodeur
mesh_terms: D002528:Cerebellar Neoplasms / Q000235:genetics*; D002886:Chromosomes, Human, Pair 17; D016158:Genes, p53 / Q000235:genetics*; D006801:Humans; D008527:Medulloblastoma / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D014407:Tumor Cells, Cultured