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dc.contributor.authorChoi, Man Hung
dc.contributor.authorTjora, Erling
dc.contributor.authorForthun, Rakel Brendsdal
dc.contributor.authorEngjom, Trond
dc.contributor.authorRæder, Helge
dc.contributor.authorHovland, Randi
dc.contributor.authorMolven, Anders
dc.date.accessioned2021-10-14T07:34:53Z
dc.date.available2021-10-14T07:34:53Z
dc.date.created2021-10-07T10:16:59Z
dc.date.issued2021
dc.identifier.issn1424-3903
dc.identifier.urihttps://hdl.handle.net/11250/2800308
dc.description.abstractBackground Maturity-onset diabetes of the young type 8 (MODY8 or CEL-MODY) is an inherited pancreatic disease characterized by chronic inflammation of the pancreas and diabetes. It is not known whether MODY8 patients have increased risk for developing pancreatic cancer. We investigated KRAS mutation load in duodenal juice from MODY8 patients, comparing with other groups of pancreatic disease. Methods Droplet digital PCR (ddPCR) was used to detect KRAS codon 12/13/61 mutations in duodenal juice sampled from 11 MODY8 patients, nine healthy subjects and 100 patients clinically investigated due to suspected pancreatic disease. Results KRAS mutations were detected in 4/11 patients with MODY8 (36%), 1/9 healthy subjects (11%), 15/44 patients with chronic pancreatitis (CP, 34%), 3/5 patients with pancreatic ductal adenocarcinoma (PDAC, 60%), 3/20 patients with acute pancreatitis (15%), 0/13 patients with other pancreatic disorders and 2/18 patients with nonpancreatic gastrointestinal disease (11%). Of the 28 positive juice samples, 25 (89%) had low-abundance mutations in codons 12/13, with a variant allele frequency (VAF) less than 1%. KRAS-positive patients with MODY8 or CP had significantly lower VAFs than patients with PDAC (Mann-Whitney U test; p = 0.041). Although the overall mutation detection rate was higher for subjects ≥50 years old (26%) than for younger subjects (15%), the difference was not statistically significant. Conclusions KRAS mutations were detectable in duodenal juice from MODY8 patients, but with low abundance and at the same frequency as in CP patients. The discriminative value of the analysis with regard to other pancreatic disease was limited.en_US
dc.language.isoengen_US
dc.publisherElsevieren_US
dc.rightsNavngivelse 4.0 Internasjonal*
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/deed.no*
dc.titleKRAS mutation analysis by droplet digital PCR of duodenal juice from patients with MODY8 and other pancreatic diseasesen_US
dc.typeJournal articleen_US
dc.typePeer revieweden_US
dc.description.versionpublishedVersionen_US
dc.rights.holderCopyright 2021 The Authorsen_US
cristin.ispublishedtrue
cristin.fulltextoriginal
cristin.qualitycode1
dc.identifier.doi10.1016/j.pan.2021.09.010
dc.identifier.cristin1944057
dc.source.journalPancreatologyen_US
dc.identifier.citationPancreatology, 2021.en_US


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