Are there low-penetrance TP53 Alleles? evidence from childhood adrenocortical tumors.

ABSTRACT: We have analyzed a panel of 14 cases of childhood adrenocortical tumors unselected for family history and have identified germline TP53 mutations in >80%, making this the highest known incidence of a germline mutation in a tumor-suppressor gene in any cancer. The spectrum of germline TP53 mutations detected is remarkably limited. Analysis of tumor tissue for loss of constitutional heterozygosity, with respect to the germline mutant allele and the occurrence of other somatic TP53 mutations, indicates complex sequences of genetic events in a number of tumors. None of the families had cancer histories that conformed to the criteria for Li-Fraumeni syndrome, but, in some families, we were able to demonstrate that the mutation had been inherited. In these families there were gene carriers unaff

SUBMITTER: Varley JM 

PROVIDER: S-EPMC1288270 | biostudies-literature | 1999 Oct

REPOSITORIES: biostudies-literature