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The c.657de15 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%2F00064165%3A_____%2F16%3A10327330" target="_blank" >RIV/00064165:_____/16:10327330 - isvavai.cz</a>

  • Alternative codes found

    RIV/00216208:11110/16:10327330

  • Result on the web

    <a href="http://dx.doi.org/10.1016/j.gene.2016.04.056" target="_blank" >http://dx.doi.org/10.1016/j.gene.2016.04.056</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.657de15 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 (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.

  • Czech name

  • Czech description

Classification

  • Type

    J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)

  • CEP classification

    FD - Oncology and haematology

  • OECD FORD branch

Result continuities

  • Project

    Result was created during the realization of more than one project. More information in the Projects tab.

  • 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

  • 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

    2-s2.0-84966709672