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.
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: Koji Tamura; Jun Yu; Tatsuo Hata; Masaya Suenaga; Koji Shindo; Toshiya Abe; Anne MacGregor-Das; Michael Borges; Christopher L Wolfgang; Matthew J Weiss; Jin He; Marcia Irene Canto; Gloria M Petersen; Steven Gallinger; Sapna Syngal; Randall E Brand; Anil Rustgi; Sara H Olson; Elena Stoffel; Michele L Cote; George Zogopoulos; James B Potash; Fernando S Goes; Richard W McCombie; Peter P Zandi; Mehdi Pirooznia; Melissa Kramer; Jennifer Parla; James R Eshleman; Nicholas J Roberts; Ralph H Hruban; Alison Patricia Klein; Michael Goggins Journal: Proc Natl Acad Sci U S A Date: 2018-04-18 Impact factor: 11.205
Authors: Mary Linton B Peters; Andrew Eckel; Anna Lietz; Claudia Seguin; Peter Mueller; Chin Hur; Pari V Pandharipande Journal: Pancreatology Date: 2022-05-31 Impact factor: 3.977
Authors: Jason M Link; Shannon M Liudahl; Courtney B Betts; Shamilene Sivagnanam; Kenna R Leis; Mary McDonnell; Carl R Pelz; Brett Johnson; Kelly J Hamman; Dove Keith; Jone E Sampson; Terry K Morgan; Charles D Lopez; Lisa M Coussens; Rosalie C Sears Journal: JCO Precis Oncol Date: 2021-02-05
Authors: Koji Shindo; Jun Yu; Masaya Suenaga; Shahriar Fesharakizadeh; Koji Tamura; Jose Alejandro Navarro Almario; Aaron Brant; Michael Borges; Abdulrehman Siddiqui; Lisa Datta; Christopher L Wolfgang; Ralph H Hruban; Alison Patricia Klein; Michael Goggins Journal: Oncotarget Date: 2017-02-07