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@ARTICLE{Dennis:178697,
      author       = {J. Dennis and J. P. Tyrer and L. C. Walker and K.
                      Michailidou and L. Dorling and M. K. Bolla and Q. Wang and
                      T. U. Ahearn and I. L. Andrulis and H. Anton-Culver and N.
                      N. Antonenkova and V. Arndt$^*$ and K. J. Aronson and L. E.
                      B. Freeman and M. W. Beckmann and S. Behrens$^*$ and J.
                      Benitez and M. Bermisheva and N. V. Bogdanova and S. E.
                      Bojesen and H. Brenner$^*$ and J. E. Castelao and J.
                      Chang-Claude$^*$ and G. Chenevix-Trench and C. L. Clarke and
                      J. M. Collée and F. J. Couch and A. Cox and S. S. Cross and
                      K. Czene and P. Devilee and T. Dörk and L. Dossus and A. H.
                      Eliassen and M. Eriksson and D. G. Evans and P. A. Fasching
                      and J. Figueroa and O. Fletcher and H. Flyger and L.
                      Fritschi and M. Gabrielson and M. Gago-Dominguez and M.
                      García-Closas and G. G. Giles and A. González-Neira and P.
                      Guénel and E. Hahnen and C. A. Haiman and P. Hall and A.
                      Hollestelle and R. Hoppe and J. L. Hopper and A. Howell and
                      A. Jager and A. Jakubowska and E. M. John and N. Johnson and
                      M. E. Jones and A. Jung$^*$ and R. Kaaks$^*$ and R. Keeman
                      and E. Khusnutdinova and C. M. Kitahara and Y.-D. Ko and
                      V.-M. Kosma and S. Koutros and P. Kraft and V. N. Kristensen
                      and K. Kubelka-Sabit and A. W. Kurian and J. V. Lacey and D.
                      Lambrechts and N. L. Larson and M. Linet and A. Ogrodniczak
                      and A. Mannermaa and S. Manoukian and S. Margolin and D.
                      Mavroudis and R. L. Milne and T. A. Muranen and R. A. Murphy
                      and H. Nevanlinna and J. E. Olson and H. Olsson and T.-W.
                      Park-Simon and C. M. Perou and P. Peterlongo and D.
                      Plaseska-Karanfilska and K. Pylkäs and G. Rennert and E.
                      Saloustros and D. P. Sandler and E. J. Sawyer and M. K.
                      Schmidt and R. K. Schmutzler and R. Shibli and A. Smeets and
                      P. Soucy and M. C. Southey and A. J. Swerdlow and R. M.
                      Tamimi and J. A. Taylor and L. R. Teras and M. B. Terry and
                      I. Tomlinson and M. A. Troester and T. Truong and C. M.
                      Vachon and C. Wendt and R. Winqvist and A. Wolk and X. R.
                      Yang and W. Zheng and A. Ziogas and J. Simard and A. M.
                      Dunning and P. D. P. Pharoah and D. F. Easton and V. N.
                      Kristensen and K. K. Sahlberg and A.-L. Børresen-Dale and
                      I. T. Gram and O. Engebråten and B. Naume and J. Geisler
                      and G. I. G. Alnæs and J. Lacey and E. Martinez and C.
                      Clarke and J. Carpenter and D. Marsh and R. Scott and R.
                      Baxter and D. Yip and A. Davis and N. Pathmanathan and P.
                      Simpson and D. Graham and M. Sachchithananthan and I.
                      Campbell and A. de Fazio and S. Fox and J. Kirk and G.
                      Lindeman and R. Milne and M. Southey and A. Spurdle and H.
                      Thorne},
      collaboration = {NBCS Collaborators and C. Consortium and A. Investigators
                      and k. Investigators},
      title        = {{R}are germline copy number variants ({CNV}s) and breast
                      cancer risk.},
      journal      = {Communications biology},
      volume       = {5},
      number       = {1},
      issn         = {2399-3642},
      address      = {London},
      publisher    = {Springer Nature},
      reportid     = {DKFZ-2022-00206},
      pages        = {65},
      year         = {2022},
      abstract     = {Germline copy number variants (CNVs) are pervasive in the
                      human genome but potential disease associations with rare
                      CNVs have not been comprehensively assessed in large
                      datasets. We analysed rare CNVs in genes and non-coding
                      regions for 86,788 breast cancer cases and 76,122 controls
                      of European ancestry with genome-wide array data. Gene
                      burden tests detected the strongest association for
                      deletions in BRCA1 (P = 3.7E-18). Nine other genes were
                      associated with a p-value < 0.01 including known
                      susceptibility genes CHEK2 (P = 0.0008), ATM (P = 0.002) and
                      BRCA2 (P = 0.008). Outside the known genes we detected
                      associations with p-values < 0.001 for either overall or
                      subtype-specific breast cancer at nine deletion regions and
                      four duplication regions. Three of the deletion regions were
                      in established common susceptibility loci. To the best of
                      our knowledge, this is the first genome-wide analysis of
                      rare CNVs in a large breast cancer case-control dataset. We
                      detected associations with exonic deletions in established
                      breast cancer susceptibility genes. We also detected
                      suggestive associations with non-coding CNVs in known and
                      novel loci with large effects sizes. Larger sample sizes
                      will be required to reach robust levels of statistical
                      significance.},
      cin          = {C071 / C020 / C070 / C120 / HD01},
      ddc          = {570},
      cid          = {I:(DE-He78)C071-20160331 / I:(DE-He78)C020-20160331 /
                      I:(DE-He78)C070-20160331 / I:(DE-He78)C120-20160331 /
                      I:(DE-He78)HD01-20160331},
      pnm          = {313 - Krebsrisikofaktoren und Prävention (POF4-313)},
      pid          = {G:(DE-HGF)POF4-313},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:35042965},
      doi          = {10.1038/s42003-021-02990-6},
      url          = {https://inrepo02.dkfz.de/record/178697},
}