Article
The breast cancer immunophenotype of TP53-p.R337H carriers is different from that observed among other pathogenic TP53 mutation carriers.
Familial cancer - 1 Jun 2015
Fitarelli-Kiehl Mariana, Giacomazzi Juliana, Santos-Silva Patricia, Graudenz Marcia Silveira, Palmero Edenir Inez, Michelli Rodrigo Augusto Depieri, Achatz Maria Isabel, de Toledo Osório Cynthia Aparecida Bueno, de Faria Ferraz Victor Evangelista, Picanço Clarissa Gondim, Ashton-Prolla Patricia
Abstract excerpt
Germline TP53 mutations are associated with Li-Fraumeni syndrome, an autosomal dominant disorder characterized by a predisposition to multiple early-onset cancers including breast cancer (BC), the most prevalent tumor among women. The majority of germline TP53 mutations are clustered within the DNA-binding domain of the gene, disrupting the structure and function of the protein. A specific germline mutation in...
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