Article
Germline mutations in PPP2R1B in patients with a personal and family history of cancer.
JCI insight - 8 May 2025
Mazhar Sahar, O'Connor Caitlin M, Harold Alexis, Dowdican Amanda C, Ulintz Peter J, Hanson Erika N, Zhang Yuping, Jacobs Michelle F, Merajver Sofia D, Jackson Mark W, Scott Anthony, Sieuwerts Anieta M, Chinnaiyan Arul M, Narla Goutham
Abstract excerpt
An estimated 5%-10% of cancer results from an underlying genetic predisposition. For the majority of familial cases, the genes in question remain unknown, suggesting a critical need to identify new cancer predisposition genes. Members of the protein phosphatase 2A (PP2A) family exist as trimeric holoenzymes and are vital negative regulators of multiple oncogenic pathways. PP2A inhibition by somatic mutation, loss...
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