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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
6
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pubmed:dateCreated |
1998-8-18
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pubmed:abstractText |
Li-Fraumeni syndrome (LFS) is characterized by a high risk of sarcomas, early onset of breast cancer, and a diversity of other cancers occurring as multiple primary tumors in multiple family members. In many families with LFS, germline mutations within the tumor-suppressor gene p53 have been identified. However, mutations in p53 have not been detected in approximately 30% of LFS families. To address the possibility either that p53 mutations were being missed or that another predisposing gene is altered in LFS, we used a variety of methods to accurately determine the p53 status in a large LFS kindred. A transcriptional activation assay on exons 4-10 of p53 excluded a mutation within the DNA-binding domain of p53. Single-stranded conformational-polymorphism analysis, using intronic primers and sequencing of all the coding exons and intron/exon junctions, also yielded no mutations. Finally, linkage analysis excluded potential mutations in the noncoding regions of p53. Our findings exclude the presence of a p53 germline mutation in a classic LFS family.
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pubmed:grant | |
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 |
0340-6717
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pubmed:author | |
pubmed:issnType |
Print
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pubmed:volume |
102
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
681-6
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pubmed:dateRevised |
2010-11-18
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pubmed:meshHeading |
pubmed-meshheading:9703430-Adult,
pubmed-meshheading:9703430-Alleles,
pubmed-meshheading:9703430-Female,
pubmed-meshheading:9703430-Genes, p53,
pubmed-meshheading:9703430-Genetic Linkage,
pubmed-meshheading:9703430-Germ-Line Mutation,
pubmed-meshheading:9703430-Humans,
pubmed-meshheading:9703430-Li-Fraumeni Syndrome,
pubmed-meshheading:9703430-Male,
pubmed-meshheading:9703430-Mutation,
pubmed-meshheading:9703430-Pedigree,
pubmed-meshheading:9703430-Polymorphism, Single-Stranded Conformational,
pubmed-meshheading:9703430-Saccharomyces cerevisiae
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pubmed:year |
1998
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pubmed:articleTitle |
Exclusion of a p53 germline mutation in a classic Li-Fraumeni syndrome family.
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pubmed:affiliation |
Department of Molecular Genetics, The University of Texas M.D. Anderson Cancer Center, Houston, USA.
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pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, P.H.S.
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