CTRC gene polymorphism may increase pancreatic cancer risk – preliminary study

Pancreatic cancer is often fatal due to delayed diagnosis and treatment difficulties. Objective: To analyze selected SPINK1, CTRC, CFTR, and PRSS1 gene mutations in cancer tissue and blood samples of patients with pancreatic tumors. Materials and method: We enrolled 16 consecutive patients diagnosed with pancreatic tumors. We collected cancer tissue, normal pancreatic tissue, and blood samples for genetic tests. The control group consisted of 419 healthy individuals. Peripheral blood samples were collected from all study participants in EDTA-coated tubes. Results: Out of 16 patients with pancreatic tumors, 12 had pancreatic cancer on microscopic examination (mean age, 60.2 years). The CTRC polymorphism Hetero p.G60=(c.180C>T) was found in 5 patients with pancreatic cancer (41.7% vs. 18.6% in the control group). One patient with pancreatic cancer and a positive family history had the SPINK1 (p.N34S) mutation [8.3% vs. 2.9% (12/419) in the control group]. One patient with pancreatic cancer had the CTRC (p.R254W) mutation [8.3% vs. 1% (4/419) in the control group]. Conclusions: Our preliminary results show that the CTRC polymorphism p.G60= (c.180C>T) is frequent in patients with pancreatic cancer. However, further research is needed to verify our findings.