Abstrakt
Pancreatic ductal adenocarcinoma (PDAC) is the sixth most frequent cancer type in the Czech Republic with a poor prognosis that could be improved by an early detection and subsequent surgical treatment combined with chemotherapy. Genetic factors play an important role in PDAC risk.
We previously identified one PDAC patient harboring the Slavic founder deleterious mutation c.657de15 in the NBN gene, using a panel next generation sequencing (NGS). A subsequent analysis of 241 unselected PDAC patients revealed other mutation carriers.
The overall frequency of c.657de15 in unselected PDAC patients (5/241; 2.07%) significantly differed from that in non-cancer controls (2/915; 0.2%; P = 0.006). The result indicates that the NBN c.657de15 variant represents a novel PDAC-susceptibility allele increasing PDAC risk (OR = 9.7; 95% CI: 1.9 to 50.2).
The increased risk of PDAC in follow-up recommendations for NBN mutation carriers should be considered if other studies also confirm an increased frequency of c.657de15 carriers in PDAC patients from other populations.