Interpretation 269
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Variants
Primary Sites
Tumor Types
Interpretation
Somatic mutations in GNAS are frequently found in intraductal papillary mucinous neoplasms (IPMNs) of pancreas, and have been identified in 41% to 66% of cases. All of these mutations involved codon 201 (R201C or R201H). However, the GNAS mutation was infrequent in typical pancreatic ductal adenocarcinomas (PDAs). These mutations are lead to disruption of the intrinsic hydrolytic activity of Gsα, leading to constitutive activation. GNAS mutations seem to be an early event in IPMN development. The clinical significance of these mutations remains to be established.
Citations
- 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
Last updated: 2016-06-07 02:23:28 UTC