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402833 | New Interpretation | 01/22/2019 1:41 PM |
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Tier 2InterpretationThe GNAS gene encodes the stimulatory G-alpha subunit of the heterotrimeric guanine nucleotide-binding protein (G-protein) membrane complex. Activating mutations in GNAS that have been linked to the endocrine hyperplasia of McCune-Albright syndrome have also been found in growth-hormone-secreting pituitary tumors. Point mutations in the GNAS gene, many of which involve the residues R201 and Q227, can lead to constitutive signaling activity, resulting in cellular proliferation and oncogenesis. Tumor types that have been found to harbor GNAS mutations include colon, parathyroid, and ovarian cancers, hepatocellular carcinoma, and pancreatic intraductal papillary mucinous neoplasms. The GNAS R201C mutation is known to be oncogenic.
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Citations- O'Hayre M, Vazquez-Prado J, Kufareva I, Stawiski EW, Handel TM, Seshagiri S, Gutkind JS. The emerging mutational landscape of G proteins and G-protein-coupled receptors in cancer. Nat Rev Cancer. 2013 Jun;13(6):412-24.
- Wu J, et al. Recurrent GNAS mutations define an unexpected pathway for pancreatic cyst development. Sci Transl Med 2011;3(92):92ra66
- Matthaei H, et al. GNAS sequencing identifies IPMN-specific mutations in a subgroup of diminutive pancreatic cysts referred to as "incipient IPMNs". Am J Surg Pathol 2014;38(3):360-3
- Frampton AE, et al. Activating mutations of GNAS and KRAS in cystic fluid can help detect intraductal papillary mucinous neoplasms of the pancreas. Expert Rev Mol Diagn 2015;15(3):325-8
- Singhi AD, et al. Preoperative GNAS and KRAS testing in the diagnosis of pancreatic mucinous cysts. Clin Cancer Res 2014;20(16):4381-9
- Furukawa T, et al. Whole-exome sequencing uncovers frequent GNAS mutations in intraductal papillary mucinous neoplasms of the pancreas. Sci Rep 2011;1():161
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Last updated: 2019-01-22 18:41:42 UTC
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