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@ARTICLE{Campa:154461,
author = {D. Campa and M. Gentiluomo and O. M. A. Obazee$^*$ and A.
Ballerini and L. Vodickova and P. Hegyi and P. Soucek and H.
Brenner$^*$ and A. C. Milanetto and S. Landi and X. Gao and
D. Bozzato and G. Capurso and F. Tavano and Y. Vashist and
T. Hackert and F. Bambi and S. Bursi and M. Oliverius and D.
Gioffreda and B. Schöttker$^*$ and A. Ivanauskas and B.
Mohelnikova-Duchonova and E. Darvasi and R. Pezzilli and E.
Małecka-Panas and O. Strobel and M. Gazouli and V.
Katzke$^*$ and A. Szentesi and G. M. Cavestro and G. Farkas
and J. R. Izbicki and S. Moz and L. Archibugi and V. Hlavac
and Á. Vincze and R. Talar-Wojnarowska and B. Rusev and J.
Kupcinskas and B. Greenhalf and F. Dijk and N. Giese and U.
Boggi and A. Andriulli and O. R. Busch and G. Vanella and P.
Vodicka and M. Nentwich and R. T. Lawlor and G. E.
Theodoropoulos and K. Jamroziak and R. A. Zuppardo and L.
Moletta and L. Ginocchi and R. Kaaks$^*$ and J. P.
Neoptolemos and M. Lucchesi and F. Canzian$^*$},
title = {{G}enome-wide association study identifies an early onset
pancreatic cancer risk locus.},
journal = {International journal of cancer},
volume = {147},
number = {8},
issn = {0020-7136},
address = {Bognor Regis},
publisher = {Wiley-Liss},
reportid = {DKFZ-2020-00783},
pages = {2065-2074},
year = {2020},
note = {2020 Oct 15;147(8):2065-2074#LA:C055#},
abstract = {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 < 1x10-4 ). 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 = 1.15x10-4 ). 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. This article is protected by copyright. All
rights reserved.},
cin = {C055 / C070 / C120 / HD01 / C020},
ddc = {610},
cid = {I:(DE-He78)C055-20160331 / I:(DE-He78)C070-20160331 /
I:(DE-He78)C120-20160331 / I:(DE-He78)HD01-20160331 /
I:(DE-He78)C020-20160331},
pnm = {313 - Cancer risk factors and prevention (POF3-313)},
pid = {G:(DE-HGF)POF3-313},
typ = {PUB:(DE-HGF)16},
pubmed = {pmid:32270874},
doi = {10.1002/ijc.33004},
url = {https://inrepo02.dkfz.de/record/154461},
}