Genome-wide association study identifies an early onset pancreatic cancer risk locus
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064173%3A_____%2F20%3AN0000195" target="_blank" >RIV/00064173:_____/20:N0000195 - isvavai.cz</a>
Alternative codes found
RIV/68378041:_____/20:00538992 RIV/00216208:11110/20:10411103 RIV/00216208:11120/20:43920054 RIV/00216208:11140/20:10411103 RIV/75010330:_____/20:00013326
Result on the web
<a href="https://doi.org/10.1002/ijc.33004" target="_blank" >https://doi.org/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>
Alternative languages
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 <= 60 years, of whom 198 with age of onset <= 50, and 3227 controls from PanScan I-II, we observed four SNPs (rs7155613, rs2328991, rs4891017 and rs12610094) showing an association with EOPC risk (P < 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 <= 60 years, of whom 265 with age of onset <= 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
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Czech description
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Classification
Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
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OECD FORD branch
30204 - Oncology
Result continuities
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)
Others
Publication year
2020
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
International Journal of Cancer
ISSN
0020-7136
e-ISSN
1097-0215
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