Ontology highlight
ABSTRACT:
SUBMITTER: Assumpcao JG
PROVIDER: S-EPMC2631588 | biostudies-literature | 2008 Dec
REPOSITORIES: biostudies-literature
Assumpção Juliana G JG Seidinger Ana Luíza AL Mastellaro Maria José MJ Ribeiro Raul C RC Zambetti Gerard P GP Ganti Ramapriya R Srivastava Kumar K Shurtleff Sheila S Pei Deqing D Zeferino Luiz Carlos LC Dufloth Rozany M RM Brandalise Silvia Regina SR Yunes José Andres JA
BMC cancer 20081201
<h4>Background</h4>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 mutation may also contribute to breast tumorigenesis in a genetic background-speci ...[more]