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@ARTICLE{Stylianou:294406,
      author       = {C. E. Stylianou and G. A. R. Wiggins and V. L. Lau and J.
                      Dennis and A. N. Shelling and M. Wilson and P. Sykes and F.
                      Amant and D. Annibali and W. De Wispelaere and D. F. Easton
                      and P. A. Fasching and D. M. Glubb and E. L. Goode and D.
                      Lambrechts and P. D. P. Pharoah and R. J. Scott and E. Tham
                      and I. Tomlinson and M. K. Bolla and F. J. Couch and K.
                      Czene and T. Dörk and A. M. Dunning and O. Fletcher and M.
                      García-Closas and R. Hoppe and H. Jernström and R.
                      Kaaks$^*$ and K. Michailidou and N. Obi and M. C. Southey
                      and J. Stone and Q. Wang and A. B. Spurdle and T. A. O'Mara
                      and J. Pearson and L. C. Walker},
      collaboration = {A. Investigators},
      othercontributors = {C. Clarke and D. Marsh and R. Scott and R. Baxter and D.
                          Yip and J. Carpenter and A. Davis and N. Pathmanathan and P.
                          Simpson and J. Dinny Graham and M. Sachchithananthan},
      title        = {{G}ermline copy number variants and endometrial cancer
                      risk.},
      journal      = {Human genetics},
      volume       = {143},
      issn         = {0018-7348},
      address      = {Heidelberg},
      publisher    = {Springer},
      reportid     = {DKFZ-2024-02235},
      pages        = {1481–1498},
      year         = {2024},
      note         = {Volume 143, pages 1481–1498, (2024)},
      abstract     = {Known risk loci for endometrial cancer explain
                      approximately one third of familial endometrial cancer.
                      However, the association of germline copy number variants
                      (CNVs) with endometrial cancer risk remains relatively
                      unknown. We conducted a genome-wide analysis of rare CNVs
                      overlapping gene regions in 4115 endometrial cancer cases
                      and 17,818 controls to identify functionally relevant
                      variants associated with disease. We identified a 1.22-fold
                      greater number of CNVs in DNA samples from cases compared to
                      DNA samples from controls (p = 4.4 × 10-63). Under three
                      models of putative CNV impact (deletion, duplication, and
                      loss of function), genome-wide association studies
                      identified 141 candidate gene loci associated (p < 0.01)
                      with endometrial cancer risk. Pathway analysis of the
                      candidate loci revealed an enrichment of genes involved in
                      the 16p11.2 proximal deletion syndrome, driven by a large
                      recurrent deletion (chr16:29,595,483-30,159,693) identified
                      in $0.15\%$ of endometrial cancer cases and $0.02\%$ of
                      control participants. Together, these data provide evidence
                      that rare copy number variants have a role in endometrial
                      cancer susceptibility and that the proximal 16p11.2 BP4-BP5
                      region contains 25 candidate risk gene(s) that warrant
                      further analysis to better understand their role in human
                      disease.},
      cin          = {C020},
      ddc          = {610},
      cid          = {I:(DE-He78)C020-20160331},
      pnm          = {313 - Krebsrisikofaktoren und Prävention (POF4-313)},
      pid          = {G:(DE-HGF)POF4-313},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:39495297},
      doi          = {10.1007/s00439-024-02707-9},
      url          = {https://inrepo02.dkfz.de/record/294406},
}