Document Detail

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

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