| p53 mosaicism with an exon 8 germline mutation in the founder of a cancer-prone pedigree. | |
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MedLine Citation:
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PMID: 1359493 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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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Authors:
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H Kovar; A Auinger; G Jug; T Müller; K Pillwein |
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Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: Oncogene Volume: 7 ISSN: 0950-9232 ISO Abbreviation: Oncogene Publication Date: 1992 Nov |
Date Detail:
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Created Date: 1992-12-08 Completed Date: 1992-12-08 Revised Date: 2006-11-15 |
Medline Journal Info:
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Nlm Unique ID: 8711562 Medline TA: Oncogene Country: ENGLAND |
Other Details:
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Languages: eng Pagination: 2169-73 Citation Subset: IM |
Affiliation:
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Children's Cancer Research Institute, St Anna Kinderspital, Vienna, Austria. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Base Sequence Exons* Female Genes, p53* Humans Li-Fraumeni Syndrome / genetics* Male Molecular Sequence Data Mosaicism* Mutation* Polymorphism, Restriction Fragment Length |
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