The c.657de15 variant in the NBN gene predisposes to pancreatic cancer

Kód výsledku v 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>

Nalezeny alternativní kódy

RIV/00216208:11110/16:10327330

Výsledek na webu

<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>

Jazyk výsledku

angličtina

Název v původním jazyce

The c.657de15 variant in the NBN gene predisposes to pancreatic cancer

Popis výsledku v původním jazyce

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.

Název v anglickém jazyce

The c.657de15 variant in the NBN gene predisposes to pancreatic cancer

Popis výsledku anglicky

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.

Druh

J_x - Nezařazeno - Článek v odborném periodiku (Jimp, Jsc a Jost)

CEP obor

FD - Onkologie a hematologie

OECD FORD obor

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Projekt

Výsledek vznikl pri realizaci vícero projektů. Více informací v záložce Projekty.

Návaznosti

V - Vyzkumna aktivita podporovana z jinych verejnych zdroju

Rok uplatnění

2016

Kód důvěrnosti údajů

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Název periodika

Gene

ISSN

0378-1119

e-ISSN

—

Svazek periodika

587

Číslo periodika v rámci svazku

2

Stát vydavatele periodika

NL - Nizozemsko

Počet stran výsledku

4

Strana od-do

169-172

Kód UT WoS článku

000377827600008

EID výsledku v databázi Scopus

2-s2.0-84966709672