title: CFTR, SPINK1, PRSS1, and CTRC mutations are not associated with pancreatic cancer in German patients.
abstract: OBJECTIVE
  Mutations in the cationic trypsinogen (PRSS1), cystic fibrosis transmembrane conductance regulator (CFTR), serine protease inhibitor Kazal type 1 (SPINK1), and chymotrypsin C (CTRC) genes are associated with an elevated risk for chronic pancreatitis, which is a known risk factor for pancreatic cancer (PC). Therefore, we analyzed whether PRSS1, CFTR, SPINK1, and/or CTRC mutations are associated with pancreatic adenocarcinoma.
  
  
  METHODS
  The study cohort was composed of 121 PC patients, of whom 74 were classified as having chronic pancreatitis, 102 patients with idiopathic chronic pancreatitis, and 130 as healthy controls. Mutation analyses for the CFTR, SPINK1, PRSS1, and CTRC genes were performed for the presence of the most common mutations.
  
  
  RESULTS
  The frequency of CFTR mutations in patients with PC was not significantly different in comparison with healthy controls and controls with pancreatitis. The SPINK1 mutation frequency was significantly decreased in patients with PC in comparison with patients with idiopathic pancreatitis but varied not significantly in comparison with healthy controls. None of the selected 121 PC samples showed a pancreatitis-predisposing mutation in the PRSS1 or CTRC gene.
  
  
  CONCLUSIONS
  Mutations in the genes CFTR, SPINK1, PRSS1, and CTRC do not seem to significantly increase the risk for pancreatic adenocarcinoma.
authors.affiliation: From the Institutes of *Human Genetics and †Pathology, Hannover Medical School, Hannover, Germany; ‡Department of Andrology, University Hospital Hamburg-Eppendorf, Hamburg, Germany; and §Department of General, Visceral and Pediatric Surgery, University Medical Center Göttingen, Göttingen, Germany.
authors.forename: Stephanie
authors.initials: S
authors.lastname: Schubert
authors.forename: Frank
authors.initials: F
authors.lastname: Traub
authors.forename: Kai
authors.initials: K
authors.lastname: Brakensiek
authors.forename: Kathrein
authors.initials: K
authors.lastname: von Kopylow
authors.forename: Britta
authors.initials: B
authors.lastname: Marohn
authors.forename: Madeleine
authors.initials: M
authors.lastname: Maelzer
authors.forename: Jochen
authors.initials: J
authors.lastname: Gaedcke
authors.forename: Hans
authors.initials: H
authors.lastname: Kreipe
authors.forename: Manfred
authors.initials: M
authors.lastname: Stuhrmann
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D021441:Carcinoma, Pancreatic Ductal / Q000453:epidemiology / Q000235:genetics*; D002352:Carrier Proteins / Q000235:genetics*; D002918:Chymotrypsin / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D004252:DNA Mutational Analysis; D004273:DNA, Neoplasm / Q000235:genetics; D005260:Female; D020022:Genetic Predisposition to Disease; D005858:Germany / Q000453:epidemiology; D006801:Humans; D008297:Male; D008875:Middle Aged; D009363:Neoplasm Proteins / Q000235:genetics*; D010190:Pancreatic Neoplasms / Q000453:epidemiology / Q000235:genetics*; D050500:Pancreatitis, Chronic / Q000453:epidemiology / Q000235:genetics; D011230:Precancerous Conditions / Q000453:epidemiology / Q000235:genetics; D012189:Retrospective Studies; D014357:Trypsin / Q000235:genetics*; D014359:Trypsin Inhibitor, Kazal Pancreatic
chemical_list: C505032:CFTR protein, human; D002352:Carrier Proteins; D004273:DNA, Neoplasm; D009363:Neoplasm Proteins; C486642:SPINK1 protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D014359:Trypsin Inhibitor, Kazal Pancreatic; D002918:Chymotrypsin; C117569:chymotrypsin C; C489303:PRSS1 protein, human; D014357:Trypsin