A previously undescribed mutation within the tetramerisation domain of TP53 in a family with Li-Fraumeni syndrome.
Varley, Jennifer McGown, Gail Thorncroft, Mary R Cochrane, S Morrison, P Woll, Penella J Kelsey, Anna M Mitchell, Erika L D Boyle, John M Birch, Jillian M
Varley, Jennifer
McGown, Gail
Thorncroft, Mary R
Cochrane, S
Morrison, P
Woll, Penella J
Kelsey, Anna M
Mitchell, Erika L D
Boyle, John M
Birch, Jillian M
Citations
Altmetric:
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.
Description
Date
1996-06-06
Publisher
Collections
Keywords
Type
Article
Citation
A previously undescribed mutation within the tetramerisation domain of TP53 in a family with Li-Fraumeni syndrome. 1996, 12 (11):2437-42 Oncogene