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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
6
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pubmed:dateCreated |
1995-8-30
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pubmed:abstractText |
Using polymerase chain reaction-single-strand conformation polymorphism (PCR-SSCP) analysis, p53 gene mutation was examined in 12 intracranial germ cell tumors (5 yolk sac carcinomas and 7 germinomas), many of which were derived from young patients in the first to the second decade. A total of 10 mutations were detected in 4 of the 12 cases and, in 3 of them, the mutations were multiple or tandem. Among the 10 mutations, 7 were missense, 1 was splicing and 2 were silent. The 7 missense mutations were located at previously proposed hot spot codons or in their vicinity or, when outside the hot spots, at a codon encoding an amino acid conserved in most vertebrates. These findings suggested that all 7 missense mutations may actually give rise to functional alteration of the p53 protein. The splicing mutation was considered to be a germ-line mutation, though its biological effect was equivocal, since the neoplastic tissue contained an additional mutation. The pattern of the mutations was predominancy of G:C-A:T transition with frequent involvement of the CpG site. These mutations were more frequently detected in yolk sac carcinomas (60%; 3/5 cases) than in germinomas (14%; 1/7 cases), suggesting that the contribution of the p53 mutation to carcinogenesis differed with the histological type of the intracranial germ cell tumor.
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pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
IM
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pubmed:status |
MEDLINE
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pubmed:month |
Jun
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pubmed:issn |
0910-5050
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pubmed:author | |
pubmed:issnType |
Print
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pubmed:volume |
86
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pubmed:geneSymbol |
p53
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
555-61
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pubmed:dateRevised |
2006-11-15
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pubmed:meshHeading |
pubmed-meshheading:7622420-Adolescent,
pubmed-meshheading:7622420-Adult,
pubmed-meshheading:7622420-Amino Acid Sequence,
pubmed-meshheading:7622420-Base Sequence,
pubmed-meshheading:7622420-Brain Neoplasms,
pubmed-meshheading:7622420-Child,
pubmed-meshheading:7622420-Endodermal Sinus Tumor,
pubmed-meshheading:7622420-Female,
pubmed-meshheading:7622420-Genes, p53,
pubmed-meshheading:7622420-Germinoma,
pubmed-meshheading:7622420-Humans,
pubmed-meshheading:7622420-Male,
pubmed-meshheading:7622420-Molecular Sequence Data,
pubmed-meshheading:7622420-Point Mutation,
pubmed-meshheading:7622420-Polymerase Chain Reaction,
pubmed-meshheading:7622420-Polymorphism, Single-Stranded Conformational
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pubmed:year |
1995
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pubmed:articleTitle |
Intracranial germ cell tumors: detection of p53 gene mutations by single-strand conformation polymorphism analysis.
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pubmed:affiliation |
Department of Neuropathology, Niigata University.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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