Genome-wide association study identifies an early onset pancreatic cancer risk locus

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F61989592%3A15110%2F20%3A73602799" target="_blank" >RIV/61989592:15110/20:73602799 - isvavai.cz</a>

Result on the web

<a href="https://onlinelibrary.wiley.com/doi/10.1002/ijc.33004" target="_blank" >https://onlinelibrary.wiley.com/doi/10.1002/ijc.33004</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1002/ijc.33004" target="_blank" >10.1002/ijc.33004</a>

Result language

angličtina

Original language name

Genome-wide association study identifies an early onset pancreatic cancer risk locus

Original language description

Early onset pancreatic cancer (EOPC) is a rare disease with a very high mortality rate. Almost nothing is known on the genetic susceptibility of EOPC, therefore, we performed a genome-wide association study (GWAS) to identify novel genetic variants specific for patients diagnosed with pancreatic ductal adenocarcinoma (PDAC) at younger ages. In the first phase, conducted on 821 cases with age of onset &lt;= 60 years, of whom 198 with age of onset &lt;= 50, and 3227 controls from PanScan I-II, we observed four SNPs (rs7155613, rs2328991, rs4891017 and rs12610094) showing an association with EOPC risk (P &lt; 1 x 10(-4)). We replicated these SNPs in the PANcreatic Disease ReseArch (PANDoRA) consortium and used additional in silico data from PanScan III and PanC4. Among these four variants rs2328991 was significant in an independent set of 855 cases with age of onset &lt;= 60 years, of whom 265 with age of onset &lt;= 50, and 4142 controls from the PANDoRA consortium while in the in silico data, we observed no statistically significant association. However, the resulting meta-analysis supported the association (P = 1.15 x 10(-4)). In conclusion, we propose a novel variant rs2328991 to be involved in EOPC risk. Even though it was not possible to find a mechanistic link between the variant and the function, the association is supported by a solid statistical significance obtained in the largest study on EOPC genetics present so far in the literature.

Czech name

—

Czech description

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Type

J_ost - Miscellaneous article in a specialist periodical

CEP classification

—

OECD FORD branch

30204 - Oncology

Project

<a href="/en/project/NV19-03-00097" target="_blank" >NV19-03-00097: The analysis of unique rare entities of pancreatic ductal adenocarcinoma</a><br>

Continuities

P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)

Publication year

2020

Confidentiality

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

Name of the periodical

International Journal of Cancer (online)

ISSN

1097-0215

e-ISSN

—

Volume of the periodical

147

Issue of the periodical within the volume

8

Country of publishing house

US - UNITED STATES

Number of pages

10

Pages from-to

2065-2074

UT code for WoS article

000529605800001

EID of the result in the Scopus database

2-s2.0-85084206474