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GNAS
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Interpretation 401
Tier 2
GNAS
Variants
GNAS codon(s) 201, 844 any
Primary Sites
Colon
Rectum
Tumor Types
Adenocarcinoma
Interpretation

GNAS is a component of the heterotrimeric G-protein complex that has been shown to be mutated in 3-7% of colorectal cancers. Mutations at codon R201 of GNAS are typically activating mutations which have been described in various types of solid tumors. These mutations result in disruption of the intrinsic hydrolytic activity of Gsa, leading to constitutive activation. The clinical significance of these mutations in colorectal cancer remains to be established. Correlation with other clinical and laboratory findings is recommended.

Citations
  1. Cancer Genome Atlas Network. Comprehensive molecular characterization of human colon and rectal cancer. Nature 2012;487(7407):330-7
  2. Seshagiri S, et al. Recurrent R-spondin fusions in colon cancer. Nature 2012;488(7413):660-4
  3. Weinstein LS, et al. Minireview: GNAS: normal and abnormal functions. Endocrinology 2004;145(12):5459-64
  4. Masters SB, et al. Mutations in the GTP-binding site of GS alpha alter stimulation of adenylyl cyclase. J Biol Chem 1989;264(26):15467-74
Last updated: 2018-03-28 18:20:06 UTC
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When using PMKB, please cite: Huang et al., JAMIA 2017


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