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@ARTICLE{Wilcox:282340,
      author       = {N. Wilcox and M. Dumont and A. González-Neira and S.
                      Carvalho and C. Joly Beauparlant and M. Crotti and C.
                      Luccarini and P. Soucy and S. Dubois and R. Nuñez-Torres
                      and G. Pita and E. J. Gardner and J. Dennis and M. R. Alonso
                      and N. Álvarez and C. Baynes and A. C. Collin-Deschesnes
                      and S. Desjardins and H. Becher and S. Behrens$^*$ and M. K.
                      Bolla and J. E. Castelao and J. Chang-Claude$^*$ and S.
                      Cornelissen and T. Dörk and C. Engel and M. Gago-Dominguez
                      and P. Guénel and A. Hadjisavvas and E. Hahnen and M.
                      Hartman and B. Herráez and A. Y. Jung$^*$ and R. Keeman and
                      M. Kiechle and J. Li and M. A. Loizidou and M. Lush and K.
                      Michailidou and M. I. Panayiotidis and X. Sim and S. H. Teo
                      and J. P. Tyrer and L. E. van der Kolk and C. Wahlström and
                      Q. Wang and J. R. B. Perry and J. Benitez and M. K. Schmidt
                      and R. K. Schmutzler and P. D. P. Pharoah and A. Droit and
                      A. M. Dunning and A. Kvist and P. Devilee and D. F. Easton
                      and J. Simard},
      collaboration = {S. Investigators},
      othercontributors = {B. K. Tan and V. K. M. Tan and S.-M. Tan and G. H. Lim and
                          E. Y. Tan and P. J. Ho and A. J. Khng},
      title        = {{E}xome sequencing identifies breast cancer susceptibility
                      genes and defines the contribution of coding variants to
                      breast cancer risk.},
      journal      = {Nature genetics},
      volume       = {55},
      number       = {9},
      issn         = {1061-4036},
      address      = {London},
      publisher    = {Macmillan Publishers Limited, part of Springer Nature},
      reportid     = {DKFZ-2023-01724},
      pages        = {1435-1439},
      year         = {2023},
      note         = {2023 Sep;55(9):1435-1439},
      abstract     = {Linkage and candidate gene studies have identified several
                      breast cancer susceptibility genes, but the overall
                      contribution of coding variation to breast cancer is
                      unclear. To evaluate the role of rare coding variants more
                      comprehensively, we performed a meta-analysis across three
                      large whole-exome sequencing datasets, containing 26,368
                      female cases and 217,673 female controls. Burden tests were
                      performed for protein-truncating and rare missense variants
                      in 15,616 and 18,601 genes, respectively. Associations
                      between protein-truncating variants and breast cancer were
                      identified for the following six genes at exome-wide
                      significance (P < 2.5 × 10-6): the five known
                      susceptibility genes ATM, BRCA1, BRCA2, CHEK2 and PALB2,
                      together with MAP3K1. Associations were also observed for
                      LZTR1, ATR and BARD1 with P < 1 × 10-4. Associations
                      between predicted deleterious rare missense or
                      protein-truncating variants and breast cancer were
                      additionally identified for CDKN2A at exome-wide
                      significance. The overall contribution of coding variants in
                      genes beyond the previously known genes is estimated to be
                      small.},
      cin          = {C020},
      ddc          = {570},
      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:37592023},
      doi          = {10.1038/s41588-023-01466-z},
      url          = {https://inrepo02.dkfz.de/record/282340},
}