Introduction: Pancreatic cancer belongs to carcinomas associated with poor prognosis and low survival rate. It has been highlighted that the cancer risk is linked to both environmental and genetic factors. Available studies allow to estimate that genetic factors play a role in 5-10% of patients with pancreatic cancer. Beside other carcinomas, pancreatic cancer occurs in hereditary neoplastic syndromes associated with gene mutations, including CDKN2A, CHEK2, BRCA2. It has also been suggested that BRCA1 mutation is involved given the fact that BRCA1 mutation carriers are at increased risk for pancreatic cancer. However, a role of this mutation is not fully understood.
Objectives: The purpose of the study was to assess the relationship between BRCA1 gene mutation and pancreatic cancer in Polish population.
Patients and methods: 88 pancreatic cancer patients (56 males and 35 females) and 3784 carriers of BRCA1 mutation from 1637 families were enrolled in the study. Almost 65% of pancreatic cancer patients were cigarette smokers. Genotyping for constitutive BRCA1 gene mutation was performed in all patients with pancreatic cancer. ASA-PCR and PCR-RFLP methods were used to detect BRCA1 (5382insC, C61G, 4153delA) mutations. The frequency of pancreatic cancer in families of BRCA1 mutation carriers was evaluated.
Results: No carriers of BRCA1 mutation were identified in patients with pancreatic cancer. Only in 11 families (0.7%) with BRCA1 mutation carriers, pancreatic cancer was diagnosed.
Conclusions: Our results suggest that there is no relationship between BRCA1 mutation and pancreatic cancer development in Polish population.