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@ARTICLE{Giaccherini:186478,
author = {M. Giaccherini and R. Farinella and M. Gentiluomo and B.
Mohelnikova-Duchonova and E. F. Kauffmann and M. Palmeri and
F. Uzunoglu and P. Soucek and D. Petrauskas and G. M.
Cavestro and R. Zykus and S. Carrara and R. Pezzilli and M.
Puzzono and A. Szentesi and J. Neoptolemos and L. Archibugi
and O. Palmieri and A. C. Milanetto and G. Capurso and C. H.
J. van Eijck and H. Stocker$^*$ and R. T. Lawlor and P.
Vodicka and M. Lovecek and J. R. Izbicki and F. Perri and R.
Kupcinskaite-Noreikiene and M. Götz and J. Kupcinskas and
T. Hussein and P. Hegyi and O. R. Busch and T. Hackert and
A. Mambrini and H. Brenner$^*$ and M. Lucchesi and D. Basso
and F. Tavano and B. Schöttker$^*$ and G. Vanella and S.
Bunduc and Á. Petrányi and S. Landi and L. Morelli and F.
Canzian$^*$ and D. Campa},
title = {{A}ssociation between a polymorphic variant in the
{CDKN}2{B}-{AS}1/{ANRIL} gene and pancreatic cancer risk.},
journal = {International journal of cancer},
volume = {153},
number = {2},
issn = {0020-7136},
address = {Bognor Regis},
publisher = {Wiley-Liss},
reportid = {DKFZ-2022-03199},
pages = {373-379},
year = {2023},
note = {2023 Jul 15;153(2):373-379},
abstract = {Genes carrying high-penetrance germline mutations may also
be associated with cancer susceptibility through common
low-penetrance genetic variants. To increase the knowledge
on genetic pancreatic ductal adenocarcinoma (PDAC)
aetiology, the common genetic variability of PDAC familial
genes was analysed in our study. We conducted a multiphase
study analysing 7745 single nucleotide polymorphisms (SNPs)
from 29 genes reported to harbour a high-penetrance
PDAC-associated mutation in at least one published study. To
assess the effect of the SNPs on PDAC risk, a total of 14
666 PDAC cases and 221 897 controls across five different
studies were analysed. The T allele of the rs1412832
polymorphism, that is situated in the CDKN2B-AS1/ANRIL,
showed a genome-wide significant association with increased
risk of developing PDAC (OR = 1.11, $95\%$ CI = 1.07-1.15, P
= 5.25 × 10-9 ). CDKN2B-AS1/ANRIL is a long noncoding RNA,
situated in 9p21.3, and regulates many target genes, among
which CDKN2A (p16) that frequently shows deleterious somatic
and germline mutations and deregulation in PDAC. Our results
strongly support the role of the genetic variability of the
9p21.3 region in PDAC aetiopathogenesis and highlight the
importance of secondary analysis as a tool for discovering
new risk loci in complex human diseases.},
keywords = {association study (Other) / genetic susceptibility (Other)
/ pancreatic ductal adenocarcinoma (Other) / single
nucleotide polymorphisms (Other)},
cin = {C070 / C055},
ddc = {610},
cid = {I:(DE-He78)C070-20160331 / I:(DE-He78)C055-20160331},
pnm = {313 - Krebsrisikofaktoren und Prävention (POF4-313)},
pid = {G:(DE-HGF)POF4-313},
typ = {PUB:(DE-HGF)16},
pubmed = {pmid:36451333},
doi = {10.1002/ijc.34383},
url = {https://inrepo02.dkfz.de/record/186478},
}