Article
Common activities and predictive gene signature identified for genetic hypomorphs of TP53.
Proceedings of the National Academy of Sciences of the United States of America - 14 Feb 2023
Leung Jessica C, Leu Julia I-Ju, Indeglia Alexandra, Kannan Toshitha, Clarke Nicole L, Kirven Nicole A, Dweep Harsh, Garlick David, Barnoud Thibaut, Kossenkov Andrew V, George Donna L, Murphy Maureen E
Abstract excerpt
Missense mutations that inactivate p53 occur commonly in cancer, and germline mutations in TP53 cause Li Fraumeni syndrome, which is associated with early-onset cancer. In addition, there are over two hundred germline missense variants of p53 that remain uncharacterized. In some cases, these germline variants have been shown to encode lesser-functioning, or hypomorphic, p53 protein, and these alleles are...
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