Article
Prevalence of an inherited cancer predisposition syndrome associated with the germ line TP53 R337H mutation in Paraguay.
Cancer epidemiology - 1 Apr 2015
Legal Edith Falcon-de, Ascurra Marta, Custódio Gislaine, Ayala Horacio Legal, Monteiro Magna, Vega Celeste, Fernández-Nestosa María José, Vega Sonia, Sade Elis R, Coelho Izabel M M, Ribeiro Enilze M S F, Cavalli Iglenir J, Figueiredo Bonald C
Abstract excerpt
The tumor suppressor gene TP53 is the most frequently mutated gene in human cancer, and the germline TP53 R337H mutation is the most common mutation reported to date. However, this mutation is associated with a lower cumulative lifetime cancer risk than other mutations in the p53 DNA-binding domain. A detailed statistical analysis of 171,500 DNA tests in Brazilian neonates found that 0.27% of the general...
Topics
- Genetic Predisposition to Disease
- Germ-Line Mutation
- Humans
- Neoplasms
- Paraguay
- Prevalence
- Tumor Suppressor Protein p53