Article
Inherited germline TP53 mutation encodes a protein with an aberrant C-terminal motif in a case of pediatric adrenocortical tumor.
Familial cancer - 1 Mar 2011
Pinto Emilia M, Ribeiro Raul C, Kletter Gad B, Lawrence John P, Jenkins Jesse J, Wang Jinling, Shurtleff Sheila, McGregor Lisa, Kriwacki Richard W, Zambetti Gerard P
Abstract excerpt
Childhood adrenocortical tumor (ACT), a very rare malignancy, has an annual worldwide incidence of about 0.3 per million children younger than 15 years. The association between inherited germline mutations of the TP53 gene and an increased predisposition to ACT was described in the context of the Li-Fraumeni syndrome. In fact, about two-thirds of children with ACT have a TP53 mutation. However, less than 10% of...
Topics
- Adrenal Cortex Neoplasms
- Child, Preschool
- Female
- Frameshift Mutation
- Genetic Predisposition to Disease
- Germ-Line Mutation
- Humans
- Prognosis
- Protein Folding
- Protein Structure, Tertiary
- RNA Splice Sites
- Tumor Suppressor Protein p53