A previously undescribed mutation within the tetramerisation domain of TP53 in a family with Li-Fraumeni syndrome.

摘要: We report details of a family with classic Li-Fraumeni syndrome in which there is mutation codon 344 the tumour suppressor gene TP53. Codon key residue within tetramerisation domain, and amino acid substitution proline for leucine predicted to have profound implications potentially DNA binding. This first at this either sporadic tumours or germline domain. The does not appear be remarkable spectrum tumours, loss wild-type allele leiomyosarcoma from proband. A cell line has been established proband cytogenetic molecular studies carried out, providing an extensive analysis family.