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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},
}