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@ARTICLE{Rizzato:130420,
author = {C. Rizzato$^*$ and D. Campa$^*$ and R. Talar-Wojnarowska
and C. Halloran and J. Kupcinskas and G. Butturini and B.
Mohelníková-Duchoňová and C. Sperti and C. Tjaden and P.
Ghaneh and T. Hackert and N. Funel and N. Giese and F.
Tavano and R. Pezzilli and M. Pedata and C. Pasquali and M.
Gazouli and A. Mambrini and P. Souček and P. di Sebastiano
and G. Capurso and M. Cantore and M. Oliverius and R.
Offringa$^*$ and E. Małecka-Panas and O. Strobel and A.
Scarpa and F. Canzian$^*$},
title = {{A}ssociation of genetic polymorphisms with survival of
pancreatic ductal adenocarcinoma patients.},
journal = {Carcinogenesis},
volume = {37},
number = {10},
issn = {1460-2180},
address = {Oxford},
publisher = {Oxford Univ. Press},
reportid = {DKFZ-2017-05499},
pages = {957 - 964},
year = {2016},
abstract = {Germline genetic variability might contribute, at least
partially, to the survival of pancreatic ductal
adenocarcinoma (PDAC) patients. Two recently performed
genome-wide association studies (GWAS) on PDAC overall
survival (OS) suggested (P < 10(-5)) the association between
30 genomic regions and PDAC OS. With the aim to highlight
the true associations within these regions, we analyzed 44
single-nucleotide polymorphisms (SNPs) in the 30 candidate
regions in 1722 PDAC patients within the PANcreatic Disease
ReseArch (PANDoRA) consortium. We observed statistically
significant associations for five of the selected regions.
One association in the CTNNA2 gene on chromosome 2p12
[rs1567532, hazard ratio (HR) = 1.75, $95\%$ confidence
interval (CI) 1.19-2.58, P = 0.005 for homozygotes for the
minor allele] and one in the last intron of the RUNX2 gene
on chromosome 6p21 (rs12209785, HR = 0.88, $95\%$ CI
0.80-0.98, P = 0.014 for heterozygotes) are of particular
relevance. These loci do not coincide with those that showed
the strongest associations in the previous GWAS. In silico
analysis strongly suggested a possible mechanistic link
between these two SNPs and pancreatic cancer survival.
Functional studies are warranted to confirm the link between
these genes (or other genes mapping in those regions) and
PDAC prognosis in order to understand whether these variants
may have the potential to impact treatment decisions and
design of clinical trials.},
keywords = {CTNNA2 protein, human (NLM Chemicals) / Core Binding Factor
Alpha 1 Subunit (NLM Chemicals) / RUNX2 protein, human (NLM
Chemicals) / alpha Catenin (NLM Chemicals)},
cin = {C055 / G180},
ddc = {610},
cid = {I:(DE-He78)C055-20160331 / I:(DE-He78)G180-20160331},
pnm = {313 - Cancer risk factors and prevention (POF3-313)},
pid = {G:(DE-HGF)POF3-313},
typ = {PUB:(DE-HGF)16},
pubmed = {pmid:27497070},
doi = {10.1093/carcin/bgw080},
url = {https://inrepo02.dkfz.de/record/130420},
}