The c.657del5 variant in the NBN gene predisposes to pancreatic cancer
Language English Country Netherlands Media print-electronic
Document type Journal Article
PubMed
27150568
DOI
10.1016/j.gene.2016.04.056
PII: S0378-1119(16)30352-3
Knihovny.cz E-resources
- Keywords
- Inherited risk, Pancreatic ductal adenocarcinoma, The NBN gene,
- MeSH
- Adenocarcinoma genetics MeSH
- Gene Deletion * MeSH
- Carcinoma, Pancreatic Ductal genetics MeSH
- Genetic Predisposition to Disease MeSH
- Nuclear Proteins genetics MeSH
- Middle Aged MeSH
- Humans MeSH
- Pancreatic Neoplasms genetics MeSH
- Cell Cycle Proteins genetics MeSH
- Pedigree MeSH
- Check Tag
- Middle Aged MeSH
- Humans MeSH
- Male MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
- Geographicals
- Czechoslovakia MeSH
- Names of Substances
- Nuclear Proteins MeSH
- NBN protein, human MeSH Browser
- Cell Cycle Proteins MeSH
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.657del5 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.657del5 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.657del5 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.657del5 carriers in PDAC patients from other populations.
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