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@ARTICLE{Zanti:301576,
      author       = {M. Zanti and D. G. O'Mahony and M. T. Parsons and L.
                      Dorling and J. Dennis and N. J. Boddicker and W. Chen and C.
                      Hu and M. Naven and K. Yiangou and T. U. Ahearn and C. B.
                      Ambrosone and I. L. Andrulis and A. C. Antoniou and P. L.
                      Auer and C. Baynes and C. Bodelon and N. V. Bogdanova and S.
                      E. Bojesen and M. K. Bolla and K. D. Brantley and N. J. Camp
                      and A. Campbell and J. E. Castelao and M. H. Cessna and J.
                      Chang-Claude$^*$ and F. Chen and G. Chenevix-Trench and D.
                      M. Conroy and K. Czene and A. De Nicolo and S. M. Domchek
                      and T. Dörk and A. M. Dunning and A. H. Eliassen and D. G.
                      Evans and P. A. Fasching and J. D. Figueroa and H. Flyger
                      and M. Gago-Dominguez and M. García-Closas and G. Glendon
                      and A. González-Neira and F. Grassmann and A. Hadjisavvas
                      and C. A. Haiman and U. Hamann$^*$ and S. N. Hart and M. B.
                      A. Hartman and W.-K. Ho and J. M. Hodge and R. Hoppe and S.
                      J. Howell and A. Jakubowska and E. K. Khusnutdinova and
                      Y.-D. Ko and P. Kraft and V. N. Kristensen and J. V. Lacey
                      and J. Li and G. H. Lim and S. Lindström and A.
                      Lophatananon and C. Luccarini and A. Mannermaa and M. E.
                      Martinez and D. Mavroudis and R. L. Milne and K. Muir and K.
                      L. Nathanson and R. Nuñez-Torres and N. Obi and J. E. Olson
                      and J. R. Palmer and M. I. Panayiotidis and A. V. Patel and
                      P. D. P. Pharoah and E. C. Polley and M. U. Rashid and K. J.
                      Ruddy and E. Saloustros and E. J. Sawyer and M. K. Schmidt
                      and M. C. Southey and V. K. Tan and S. H. Teo and L. R.
                      Teras and D. Torres and A. Trentham-Dietz and T. Truong and
                      C. M. Vachon and Q. Wang and J. N. Weitzel and S. Yadav and
                      S. Yao and G. R. Zirpoli and M. S. Cline and P. Devilee and
                      S. V. Tavtigian and D. E. Goldgar and F. J. Couch and D. F.
                      Easton and A. B. Spurdle and K. Michailidou},
      collaboration = {NBCS Collaborators and k. Investigators},
      othercontributors = {V. N. KristensenChenevix-Trench},
      title        = {{A}nalysis of more than 400,000 women provides case-control
                      evidence for {BRCA}1 and {BRCA}2 variant classification.},
      journal      = {Nature Communications},
      volume       = {16},
      number       = {1},
      issn         = {2041-1723},
      address      = {[London]},
      publisher    = {Springer Nature},
      reportid     = {DKFZ-2025-01084},
      pages        = {4852},
      year         = {2025},
      note         = {Hamann, Ute: Molecular Genetics of Breast Cancer, German
                      Cancer Research Center (DKFZ),},
      abstract     = {Clinical genetic testing identifies variants causal for
                      hereditary cancer, information that is used for risk
                      assessment and clinical management. Unfortunately, some
                      variants identified are of uncertain clinical significance
                      (VUS), complicating patient management. Case-control data is
                      one evidence type used to classify VUS. As an initiative of
                      the Evidence-based Network for the Interpretation of
                      Germline Mutant Alleles (ENIGMA) Analytical Working Group we
                      analyze germline sequencing data of BRCA1 and BRCA2 from
                      96,691 female breast cancer cases and 302,116 controls from
                      three studies: the BRIDGES study of the Breast Cancer
                      Association Consortium, the Cancer Risk Estimates Related to
                      Susceptibility consortium, and the UK Biobank. We observe
                      11,207 BRCA1 and BRCA2 variants, with 6909 being coding,
                      covering $23.4\%$ of BRCA1 and BRCA2 VUS in ClinVar and
                      $19.2\%$ of ClinVar curated (likely) benign or pathogenic
                      variants. Case-control likelihood ratio (ccLR) evidence is
                      highly consistent with ClinVar assertions for (likely)
                      benign or pathogenic variants; exhibiting $99.1\%$
                      sensitivity and $95.3\%$ specificity for BRCA1 and $93.3\%$
                      sensitivity and $86.6\%$ specificity for BRCA2. This
                      approach provides case-control evidence for 787 unclassified
                      variants; these include 579 with strong or moderate benign
                      evidence and 10 with strong pathogenic evidence for which
                      ccLR evidence is sufficient to alter clinical
                      classification.},
      keywords     = {Humans / Female / Case-Control Studies / BRCA2 Protein:
                      genetics / Breast Neoplasms: genetics / BRCA1 Protein:
                      genetics / Genetic Predisposition to Disease / Genetic
                      Testing / Germ-Line Mutation / Middle Aged / BRCA2 Protein
                      (NLM Chemicals) / BRCA1 Protein (NLM Chemicals) / BRCA2
                      protein, human (NLM Chemicals) / BRCA1 protein, human (NLM
                      Chemicals)},
      cin          = {C020 / B072},
      ddc          = {500},
      cid          = {I:(DE-He78)C020-20160331 / I:(DE-He78)B072-20160331},
      pnm          = {313 - Krebsrisikofaktoren und Prävention (POF4-313)},
      pid          = {G:(DE-HGF)POF4-313},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:40413188},
      doi          = {10.1038/s41467-025-59979-6},
      url          = {https://inrepo02.dkfz.de/record/301576},
}