Involvement of multiple chromosome 17p loci in medulloblastoma tumorigenesis

Loss of heterozygosity for sequences located on chromosome 17p in several tumor types is often associated with mutations in the tumor suppressor gene p53. We previously showed consistent deletion of chromosome 17p12-13.1 in medulloblastoma, a common childhood brain tumor. Using denaturing gradient g...

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Bibliographic Details
Published inAmerican journal of human genetics Vol. 50; no. 3; pp. 584 - 589
Main Authors COGEN, P. H, DANESHWAR, L, METZGER, A. K, DUYK, G, EDWARDS, M. S. B, SHEFFIELD, V. C
Format Journal Article
LanguageEnglish
Published Chicago, IL University of Chicago Press 01.03.1992
Subjects
Base Sequence
Biological and medical sciences
Cerebellar Neoplasms - etiology
Cerebellar Neoplasms - genetics
Child
Child, Preschool
Chromosome Deletion
Chromosome Mapping
Chromosomes, Human, Pair 17
Electrophoresis, Gel, Pulsed-Field
Genes, p53 - genetics
Genes, Tumor Suppressor - genetics
Heterozygote
Humans
Medical sciences
Medulloblastoma - etiology
Medulloblastoma - genetics
Molecular Sequence Data
Mutation
Neurology
Phenotype
Polymorphism, Restriction Fragment Length
Prognosis
restriction fragment length polymorphism
tumorigenesis
Tumors of the nervous system. Phacomatoses
Human
E17-Chromosome
Restriction fragment length polymorphism
Neurospongioma
Deletion
Genetics
Tumor
Mutation
Molecular biology
Carcinogenesis
Brain (vertebrata)
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Summary:Loss of heterozygosity for sequences located on chromosome 17p in several tumor types is often associated with mutations in the tumor suppressor gene p53. We previously showed consistent deletion of chromosome 17p12-13.1 in medulloblastoma, a common childhood brain tumor. Using denaturing gradient gel electrophoresis and direct sequencing, we have detected p53 mutations in only two of 20 medulloblastoma specimens. Moreover, additional RFLP studies of these 20 specimens showed loss of heterozygosity at a more distal and distinct site, 17p13.3. Deletion of 17p almost invariably signified a negative prognosis. Our results suggest that p53 mutations may contribute to the pathogenesis of medulloblastoma in relatively few cases. The consistent deletion of other discrete loci on 17p suggests that additional or alternative tumor suppressor genes may contribute to the tumor's phenotype.
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ISSN:0002-9297
1537-6605