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@ARTICLE{Buckley:142926,
      author       = {M. A. Buckley and N. T. Woods and J. P. Tyrer and G.
                      Mendoza-Fandiño and K. Lawrenson and D. J. Hazelett and H.
                      S. Najafabadi and A. Gjyshi and R. S. Carvalho and P. C.
                      Lyra and S. G. Coetzee and H. C. Shen and A. W. Yang and M.
                      A. Earp and S. J. Yoder and H. Risch and G. Chenevix-Trench
                      and S. J. Ramus and C. M. Phelan and G. A. Coetzee and H.
                      Noushmehr and T. R. Hughes and T. A. Sellers and E. L. Goode
                      and P. D. Pharoah and S. A. Gayther and A. N. A. Monteiro
                      and A. Rudolph$^*$ and J. Chang-Claude$^*$},
      collaboration = {O. C. A. Consortium},
      title        = {{F}unctional {A}nalysis and {F}ine {M}apping of the 9p22.2
                      {O}varian {C}ancer {S}usceptibility {L}ocus.},
      journal      = {Cancer research},
      volume       = {79},
      number       = {3},
      issn         = {1538-7445},
      address      = {Philadelphia, Pa.},
      publisher    = {AACR},
      reportid     = {DKFZ-2019-00554},
      pages        = {467 - 481},
      year         = {2019},
      abstract     = {: Genome-wide association studies have identified 40
                      ovarian cancer risk loci. However, the mechanisms underlying
                      these associations remain elusive. In this study, we
                      conducted a two-pronged approach to identify candidate
                      causal SNPs and assess underlying biological mechanisms at
                      chromosome 9p22.2, the first and most statistically
                      significant associated locus for ovarian cancer
                      susceptibility. Three transcriptional regulatory elements
                      with allele-specific effects and a scaffold/matrix
                      attachment region were characterized and, through physical
                      DNA interactions, BNC2 was established as the most likely
                      target gene. We determined the consensus binding sequence
                      for BNC2 in vitro, verified its enrichment in BNC2 ChIP-seq
                      regions, and validated a set of its downstream target genes.
                      Fine-mapping by dense regional genotyping in over 15,000
                      ovarian cancer cases and 30,000 controls identified SNPs in
                      the scaffold/matrix attachment region as among the most
                      likely causal variants. This study reveals a comprehensive
                      regulatory landscape at 9p22.2 and proposes a likely
                      mechanism of susceptibility to ovarian cancer. SIGNIFICANCE:
                      Mapping the 9p22.2 ovarian cancer risk locus identifies BNC2
                      as an ovarian cancer risk gene.See related commentary by
                      Choi and Brown, p. 439.},
      cin          = {C020},
      ddc          = {610},
      cid          = {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:30487138},
      pmc          = {pmc:PMC6359979},
      doi          = {10.1158/0008-5472.CAN-17-3864},
      url          = {https://inrepo02.dkfz.de/record/142926},
}