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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
11
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pubmed:dateCreated |
1992-12-8
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pubmed:abstractText |
Changes in the tumor-suppressor gene p53 are frequently acquired during the course of malignant development of human tumors. Recently, constitutional heterozygous mutations in p53 exon 7 have been identified as the primary cause of cancer predisposition in cases of the familial Li-Fraumeni cancer syndrome. These findings underline the need for extensive mutation screening in families with high cancer incidence. This report describes the detection and follow-up by two-dimensional single-strand conformation polymorphism analysis (2DSSCP) of a new germline mutation of p53 exon 8 in a case of suspected Li-Fraumeni syndrome. Although a high cancer incidence had been reported in the family history of the father of siblings suffering from brain tumor and rhabdomyosarcoma, a constitutional heterozygous p53 mutation was identified only in the affected children. Retrospective analysis of archival tissue of a half-sister who died several years ago from a tumor of previously uncertain diagnosis revealed the same mutation. The mutation had therefore occurred in the germ cells of the mother, who thus appears to be a mosaic. The cancer predisposition of the paternal ancestors must have been due to other factors.
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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 |
Nov
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pubmed:issn |
0950-9232
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pubmed:author | |
pubmed:issnType |
Print
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pubmed:volume |
7
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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 |
2169-73
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pubmed:dateRevised |
2006-11-15
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pubmed:meshHeading |
pubmed-meshheading:1359493-Adolescent,
pubmed-meshheading:1359493-Base Sequence,
pubmed-meshheading:1359493-Exons,
pubmed-meshheading:1359493-Female,
pubmed-meshheading:1359493-Genes, p53,
pubmed-meshheading:1359493-Humans,
pubmed-meshheading:1359493-Li-Fraumeni Syndrome,
pubmed-meshheading:1359493-Male,
pubmed-meshheading:1359493-Molecular Sequence Data,
pubmed-meshheading:1359493-Mosaicism,
pubmed-meshheading:1359493-Mutation,
pubmed-meshheading:1359493-Polymorphism, Restriction Fragment Length
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pubmed:year |
1992
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pubmed:articleTitle |
p53 mosaicism with an exon 8 germline mutation in the founder of a cancer-prone pedigree.
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pubmed:affiliation |
Children's Cancer Research Institute, St Anna Kinderspital, Vienna, Austria.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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