Article
A mouse model for Li-Fraumeni-Like Syndrome with cardiac angiosarcomas associated to POT1 mutations.
PLoS genetics - 1 Jun 2022
Martínez Paula, Sánchez-Vázquez Raúl, Ferrara-Romeo Iole, Serrano Rosa, Flores Juana M, Blasco Maria A
Abstract excerpt
The shelterin protein POT1 has been found mutated in many different familial and sporadic cancers, however, no mouse models to understand the pathobiology of these mutations have been developed so far. To address the molecular mechanisms underlying the tumorigenic effects of POT1 mutant proteins in humans, we have generated a mouse model for the human POT1R117C mutation found in Li-Fraumeni-Like families with...
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