The c.657del5 variant in the NBN gene predisposes to pancreatic cancer
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F75010330%3A_____%2F16%3A00011358" target="_blank" >RIV/75010330:_____/16:00011358 - isvavai.cz</a>
Result on the web
<a href="http://www.sciencedirect.com/science/article/pii/S0378111916303523" target="_blank" >http://www.sciencedirect.com/science/article/pii/S0378111916303523</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1016/j.gene.2016.04.056" target="_blank" >10.1016/j.gene.2016.04.056</a>
Alternative languages
Result language
angličtina
Original language name
The c.657del5 variant in the NBN gene predisposes to pancreatic cancer
Original language description
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 significantly differed from that in non-cancer controls. The result indicates that the NBN c.657de15 variant represents a novel PDAC-susceptibility allele increasing PDAC risk. 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.
Czech name
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Czech description
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Classification
Type
J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)
CEP classification
EB - Genetics and molecular biology
OECD FORD branch
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Result continuities
Project
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Continuities
V - Vyzkumna aktivita podporovana z jinych verejnych zdroju
Others
Publication year
2016
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Gene
ISSN
0378-1119
e-ISSN
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Volume of the periodical
587
Issue of the periodical within the volume
2
Country of publishing house
NL - THE KINGDOM OF THE NETHERLANDS
Number of pages
4
Pages from-to
169-172
UT code for WoS article
000377827600008
EID of the result in the Scopus database
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