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Activating genomic alterations in the Gs alpha gene ( GNAS ) in 274 694 tumors

27 Apr 2020

Abstract excerpt

Activating point mutations in two codons (R201 and Q227) in the alpha subunit of the stimulatory GTP binding protein (GNAS) gene-coined gsp mutations-were originally reported in growth hormone secreting pituitary adenomas. In these tumor types, gsp activating mutations were associated with uncontrolled intracellular cAMP accumulation leading to cellular proliferation and tumor formation. Since the original...

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PMID: 32337806
DOI: 10.1002/gcc.22854

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