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Interpretation 138
Tier 2
GNAS
Variants
GNAS codon(s) 201, 844 any
Primary Sites
Lung
Kidney
Tumor Types
Adenocarcinoma
Interpretation

This GNAS mutation causes constitutive activation of the G-protein complex and activates adenylate cyclase to produce cyclic-AMP (cAMP) that can activate oncogenic pathways. The R201 mutation in GNAS was thought to both drive tumor progression and confer exceptional chemo-sensitivity in a patient with an unclassified kidney cancer.

Citations
  1. Jeff P. Bruce, et al. Exome analysis of an exceptional responder uncovers an activating GNAS mutation that may confer sensitivity to cytotoxic chemotherapy. [abstract]. In: Proceedings of the 106th Annual Meeting of the American Association for Cancer Research; 2015 Apr 18-22; Philadelphia, PA. Philadelphia (PA): AACR; Cancer Res 2015;75(15 Suppl)
Last updated: 2019-04-30 14:30:45 UTC
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When using PMKB, please cite: Huang et al., JAMIA 2017


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