A previously undescribed mutation within the tetramerisation domain of TP53 in a family with Li-Fraumeni syndrome.
Thorncroft, Mary R
Woll, Penella J
Kelsey, Anna M
Mitchell, Erika L D
Boyle, John M
Birch, Jillian M
Evans, D Gareth R
AffiliationCRC Department of Cancer Genetics, Paterson Institute for Cancer Research, Manchester, UK.
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AbstractWe report details of a family with classic Li-Fraumeni syndrome in which there is a mutation in codon 344 of the tumour suppressor gene TP53. Codon 344 is a key residue within the tetramerisation domain, and the amino acid substitution of a proline for a leucine is predicted to have profound implications for tetramerisation and potentially DNA binding. This is the first report of a mutation at this residue in either sporadic tumours or in the germline and the first report of a germline mutation within the tetramerisation domain. The family does not appear to be remarkable in the spectrum of tumours, and there is loss of the wild-type allele in a leiomyosarcoma from the proband. A cell line has been established from the tumour of the proband and cytogenetic and molecular studies carried out, providing an extensive analysis in this family.
CitationA previously undescribed mutation within the tetramerisation domain of TP53 in a family with Li-Fraumeni syndrome. 1996, 12 (11):2437-42 Oncogene
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