Article
The Common Germline TP53-R337H Mutation Is Hypomorphic and Confers Incomplete Penetrance and Late Tumor Onset in a Mouse Model.
Cancer research - 1 May 2021
Jeffers John R, Pinto Emilia M, Rehg Jerold E, Clay Michael R, Wang Jinling, Neale Geoffrey, Heath Richard J, Lozano Guillermina, Lalli Enzo, Figueiredo Bonald C, Pappo Alberto S, Rodriguez-Galindo Carlos, Chen Wenan, Pounds Stanley, Ribeiro Raul C, Zambetti Gerard P
Abstract excerpt
The TP53-R337H founder mutation exists at a high frequency throughout southern Brazil and represents one of the most common germline TP53 mutations reported to date. It was identified in pediatric adrenocortical tumors in families with a low incidence of cancer. The R337H mutation has since been found in association with early-onset breast cancers and Li-Fraumeni syndrome (LFS). To study this variability in tumor...
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