{"entity":{"id":"paper-wu-gnas-ipmn-sci-transl-med-2011","kind":"paper","name":"Recurrent GNAS mutations define an unexpected pathway for pancreatic cyst development","aka":[],"tldr":"Sequencing the fluid from pancreatic cysts found that two-thirds of the mucinous kind carry a mutation at one spot in the GNAS gene, and the same mutation turns up in the cancers that grow out of them, giving a marker for which cyst is which.","summary":"DNA from IPMN cyst fluids of 19 patients was searched for mutations in 169 cancer genes. Besides the expected KRAS mutations, recurrent mutations at codon 201 of GNAS were identified; 113 further IPMNs were analysed, giving GNAS mutations in 66% and KRAS or GNAS in 96%. In seven of eight invasive adenocarcinomas arising with GNAS-mutant IPMNs, the same GNAS mutation was present in the invasive lesion. GNAS mutations were not found in other cystic neoplasms of the pancreas or in invasive adenocarcinomas unassociated with IPMN.","asOf":"2026-09-24","links":[{"label":"Wu et al., Sci Transl Med 2011: recurrent GNAS mutations in IPMN","url":"https://doi.org/10.1126/scitranslmed.3002543"},{"label":"PubMed","url":"https://pubmed.ncbi.nlm.nih.gov/21775669/"}],"tags":[],"related":[],"cancers":["pancreatic","ipmn-cystic-precursors"],"sections":[],"technologies":[],"targets":["gnas","kras"],"drugs":[],"companies":[],"institutions":["johns-hopkins"],"pathways":[],"terms":["biopsy"],"trials":[],"people":["bert-vogelstein","anirban-maitra","luis-diaz"],"bottlenecks":[],"keyPapers":[],"journals":["science-translational-medicine"],"dependsOn":[],"notes":[],"journal":"Science Translational Medicine","year":2011,"doi":"10.1126/scitranslmed.3002543","pmid":"21775669","authors":"Wu J, Matthaei H, Maitra A, et al.","paperType":"translational","findings":["GNAS codon 201 mutations in 66% of IPMNs; KRAS or GNAS in 96%.","The same GNAS mutation was in the invasive cancer in 7 of 8 IPMN-associated carcinomas.","GNAS mutations absent from other cyst types and from non-IPMN cancers."],"whatItMeans":"A GNAS mutation in cyst fluid says the cyst is an IPMN, and in a cancer it says the cancer came from one, which is the molecular basis of cyst triage.","caveats":["Resected cysts; selection towards larger lesions.","GNAS presence does not grade dysplasia."],"changedPractice":false,"participants":132},"route":"/key-papers/paper-wu-gnas-ipmn-sci-transl-med-2011/","neighbours":{"cancer":[{"id":"ipmn-cystic-precursors","kind":"cancer","name":"Intraductal papillary mucinous neoplasm and other pancreatic cystic precursors","route":"/cancers/ipmn-cystic-precursors/"},{"id":"pancreatic","kind":"cancer","name":"Pancreatic ductal adenocarcinoma","route":"/cancers/pancreatic/"}],"target":[{"id":"gnas","kind":"target","name":"GNAS","route":"/targets/gnas/"},{"id":"kras","kind":"target","name":"KRAS","route":"/targets/kras/"}],"institution":[{"id":"johns-hopkins","kind":"institution","name":"Johns Hopkins Hospital / Sidney Kimmel Comprehensive Cancer Center","route":"/institutions/johns-hopkins/"}],"term":[{"id":"biopsy","kind":"term","name":"Biopsy","route":"/terms/biopsy/"}],"person":[{"id":"anirban-maitra","kind":"person","name":"Anirban Maitra","route":"/people/anirban-maitra/"},{"id":"bert-vogelstein","kind":"person","name":"Bert Vogelstein","route":"/people/bert-vogelstein/"},{"id":"luis-diaz","kind":"person","name":"Luis A. Diaz Jr.","route":"/people/luis-diaz/"}],"journal":[{"id":"science-translational-medicine","kind":"journal","name":"Science Translational Medicine","route":"/journals/science-translational-medicine/"}]}}