Evaluating Adults With Idiopathic Pancreatitis for Genetic Predisposition: Higher Prevalence of Abnormal Results With Use of Complete Gene Sequencing. Pancreas 2015 Jan;44(1):116-21
Date
09/25/2014Pubmed ID
25251442Pubmed Central ID
PMC4262640DOI
10.1097/MPA.0000000000000225Scopus ID
2-s2.0-84914128599 (requires institutional sign-in at Scopus site) 14 CitationsAbstract
OBJECTIVES: In adults with unexplained pancreatitis, the yield of complete gene versus select exosome sequencing on mutation detection and distinguishing clinical characteristics associated with mutations requires clarification. We sought to (1) compare frequency of mutations identified using different techniques and (2) compare clinical characteristics between adults with and without mutations.
METHODS: This is a cohort study of adults with unexplained pancreatitis who underwent genetic testing between January 2008 and December 2012. We compare probabilities of having a positive mutation with complete gene sequencing versus alternatives and describe differences in characteristics among patients with and without mutations.
RESULTS: Of the 370 patients, 67 (18%) had a genetic mutation; 24 (6%) were of high risk. Mutations were significantly more prevalent with use of complete sequencing (42%) versus other approaches (8%, P < 0.0001). Most (44/67, 66%) with a mutation had no family history. Those with high-risk mutations were more likely to have a family history of chronic pancreatitis (21% vs 4%, P = 0.002). Patients with pancreas divisum were more likely to have mutations (27% vs 14%, P = 0.0007).
CONCLUSION: Among individuals with adult-onset pancreatic disease, the probability of finding any mutation, including high risk, is significantly higher using complete gene sequencing. The impact on patients and providers requires further investigation.
Author List
Ballard DD, Flueckiger JR, Fogel EL, McHenry L, Lehman GA, Watkins JL, Sherman S, Coté GAMESH terms used to index this publication - Major topics in bold
AdultDNA Mutational Analysis
Female
Genetic Association Studies
Genetic Markers
Genetic Predisposition to Disease
Heredity
Humans
Male
Middle Aged
Mutation
Pancreatitis
Pedigree
Phenotype
Predictive Value of Tests
Reproducibility of Results
Retrospective Studies
Risk Assessment
Risk Factors
Young Adult