Article
Association of the germline TP53 R337H mutation with breast cancer in southern Brazil.
BMC cancer - 1 Dec 2008
Assumpção Juliana G, Seidinger Ana Luíza, Mastellaro Maria José, Ribeiro Raul C, Zambetti Gerard P, Ganti Ramapriya, Srivastava Kumar, Shurtleff Sheila, Pei Deqing, Zeferino Luiz Carlos, Dufloth Rozany M, Brandalise Silvia Regina, Yunes José Andres
Abstract excerpt
BACKGROUND: The germline TP53-R337H mutation is strongly associated with pediatric adrenocortical tumors (ACT) in southern Brazil; it has low penetrance and limited tissue specificity in most families and therefore is not associated with Li-Fraumeni syndrome. However, other tumor types, mainly breast cancer, have been observed in carriers of several unrelated kindreds, raising the possibility that the R337H...
Topics
- Adult
- Brazil
- Breast Neoplasms
- Case-Control Studies
- Data Interpretation, Statistical
- Family
- Female
- Genes, p53
- Genetic Predisposition to Disease
- Germ-Line Mutation
- Humans
- Immunohistochemistry
- Male