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A previously undescribed mutation within the tetramerisation domain of TP53 in a family with Li-Fraumeni syndrome.
Varley, J M; McGown, G; Thorncroft, M; Cochrane, S; Morrison, P; Woll, P; Kelsey, A M; Mitchell, E L; Boyle, J; Birch, J M; Evans, D G
Oncogene. 1996;12(11):2437-42.
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Abstract
We 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.