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@ARTICLE{Dumont:164977,
      author       = {Dumont, Martine and Weber-Lassalle, Nana and
                      Joly-Beauparlant, Charles and Ernst, Corinna and Droit,
                      Arnaud and Feng, Bing-Jian and Dubois, Stéphane and
                      Collin-Deschesnes, Annie-Claude and Soucy, Penny and
                      Vallée, Maxime and Fournier, Frédéric and Lemaçon,
                      Audrey and Adank, Muriel A and Allen, Jamie and Altmüller,
                      Janine and Arnold, Norbert and Ausems, Margreet G E M and
                      Berutti, Riccardo and Bolla, Manjeet K and Bull, Shelley and
                      Carvalho, Sara and Cornelissen, Sten and Dufault, Michael R
                      and Dunning, Alison M and Engel, Christoph and Gehrig,
                      Andrea and Geurts-Giele, Willemina R R and Gieger, Christian
                      and Green, Jessica and Hackmann, Karl and Helmy, Mohamed and
                      Hentschel, Julia and Hogervorst, Frans B L and Hollestelle,
                      Antoinette and Hooning, Maartje J and Horváth, Judit and
                      Ikram, M Arfan and Kaulfuß, Silke and Keeman, Renske and
                      Kuang, Da and Luccarini, Craig and Maier, Wolfgang and
                      Martens, John W M and Niederacher, Dieter and Nürnberg,
                      Peter and Ott, Claus-Eric and Peters, Annette and Pharoah,
                      Paul D P and Ramirez, Alfredo and Ramser, Juliane and
                      Riedel-Heller, Steffi and Schmidt, Gunnar and Shah, Mitul
                      and Scherer, Martin and Stäbler, Antje and Strom, Tim M and
                      Sutter, Christian and Thiele, Holger and van Asperen,
                      Christi J and van der Kolk, Lizet and van der Luijt, Rob B
                      and Volk, Alexander E and Wagner, Michael and Waisfisz,
                      Quinten and Wang, Qing and Wang-Gohrke, Shan and Weber,
                      Bernhard H F and Genome Of The Netherlands Project and Ghs
                      Study Group and Devilee, Peter and Tavtigian, Sean and
                      Bader, Gary D and Meindl, Alfons and Goldgar, David E and
                      Andrulis, Irene L and Schmutzler, Rita K and Easton, Douglas
                      F and Schmidt, Marjanka K and Hahnen, Eric and Simard,
                      Jacques},
      title        = {{U}ncovering the {C}ontribution of {M}oderate-{P}enetrance
                      {S}usceptibility {G}enes to {B}reast {C}ancer by
                      {W}hole-{E}xome {S}equencing and {T}argeted {E}nrichment
                      {S}equencing of {C}andidate {G}enes in {W}omen of {E}uropean
                      {A}ncestry.},
      journal      = {Cancers},
      volume       = {14},
      number       = {14},
      issn         = {2072-6694},
      address      = {Basel},
      publisher    = {MDPI},
      reportid     = {DZNE-2022-01381},
      pages        = {3363},
      year         = {2022},
      note         = {CC BY},
      abstract     = {Rare variants in at least 10 genes, including BRCA1, BRCA2,
                      PALB2, ATM, and CHEK2, are associated with increased risk of
                      breast cancer; however, these variants, in combination with
                      common variants identified through genome-wide association
                      studies, explain only a fraction of the familial aggregation
                      of the disease. To identify further susceptibility genes, we
                      performed a two-stage whole-exome sequencing study. In the
                      discovery stage, samples from 1528 breast cancer cases
                      enriched for breast cancer susceptibility and 3733
                      geographically matched unaffected controls were sequenced.
                      Using five different filtering and gene prioritization
                      strategies, 198 genes were selected for further validation.
                      These genes, and a panel of 32 known or suspected breast
                      cancer susceptibility genes, were assessed in a validation
                      set of 6211 cases and 6019 controls for their association
                      with risk of breast cancer overall, and by estrogen receptor
                      (ER) disease subtypes, using gene burden tests applied to
                      loss-of-function and rare missense variants. Twenty genes
                      showed nominal evidence of association (p-value < 0.05) with
                      either overall or subtype-specific breast cancer. Our study
                      had the statistical power to detect susceptibility genes
                      with effect sizes similar to ATM, CHEK2, and PALB2, however,
                      it was underpowered to identify genes in which
                      susceptibility variants are rarer or confer smaller effect
                      sizes. Larger sample sizes would be required in order to
                      identify such genes.},
      keywords     = {breast cancer (Other) / genetic susceptibility (Other) /
                      moderate-penetrance genes (Other) / whole-exome sequencing
                      (Other)},
      cin          = {AG Klockgether},
      ddc          = {610},
      cid          = {I:(DE-2719)1011001},
      pnm          = {353 - Clinical and Health Care Research (POF4-353)},
      pid          = {G:(DE-HGF)POF4-353},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:35884425},
      pmc          = {pmc:PMC9317824},
      doi          = {10.3390/cancers14143363},
      url          = {https://pub.dzne.de/record/164977},
}