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@ARTICLE{Morra:274170,
      author       = {A. Morra and N. Mavaddat and T. A. Muranen and T. U. Ahearn
                      and J. Allen and I. L. Andrulis and P. Auvinen and H. Becher
                      and S. Behrens$^*$ and C. Blomqvist and S. E. Bojesen and M.
                      K. Bolla and H. Brauch$^*$ and N. J. Camp and S. Carvalho
                      and J. E. Castelao and M. H. Cessna and J. Chang-Claude$^*$
                      and G. Chenevix-Trench and K. Czene and B. Decker and J.
                      Dennis and T. Dörk and L. Dorling and A. M. Dunning and A.
                      B. Ekici and M. Eriksson and D. G. Evans and P. A. Fasching
                      and J. D. Figueroa and H. Flyger and M. Gago-Dominguez and
                      M. García-Closas and W. R. R. Geurts-Giele and G. G. Giles
                      and P. Guénel and M. Gündert$^*$ and E. Hahnen and P. Hall
                      and U. Hamann$^*$ and P. A. Harrington and W. He and P.
                      Heikkilä and M. J. Hooning and R. Hoppe and A. Howell and
                      K. Humphreys and A. Jakubowska and A. Y. Jung$^*$ and R.
                      Keeman and V. N. Kristensen and J. Lubiński and A.
                      Mannermaa and M. Manoochehri$^*$ and S. Manoukian and S.
                      Margolin and D. Mavroudis and R. L. Milne and A. M. Mulligan
                      and W. G. Newman and T.-W. Park-Simon and P. Peterlongo and
                      P. D. P. Pharoah and V. Rhenius and E. Saloustros and E. J.
                      Sawyer and R. K. Schmutzler and M. Shah and A. B. Spurdle
                      and I. Tomlinson and T. Truong and E. M. van Veen and M. P.
                      G. Vreeswijk and Q. Wang and C. Wendt and X. R. Yang and H.
                      Nevanlinna and P. Devilee and D. F. Easton and M. K.
                      Schmidt},
      collaboration = {NBCS Collaborators and k. Investigators},
      othercontributors = {K. K. Sahlberg and A.-L. Børresen-Dale and I. T. Gram and
                          K. S. Olsen and O. Engebråten and B. Naume and J. Geisler
                          and Osbreac and G. I. Grenaker Alnæs and D. Amor and L.
                          Andrews and Y. Antill and R. Balleine and J. Beesley and I.
                          Bennett and M. Bogwitz and L. Botes and M. Brennan and M.
                          Brown and M. Buckley and J. Burke and P. Butow and L. Caldon
                          and I. Campbell and M. Cao and A. Chakrabarti and D. Chauhan
                          and M. Chauhan and G. Chenevix-Trench and A. Christian and
                          P. Cohen and A. Colley and A. Crook and J. Cui and E.
                          Courtney and M. Cummings and S.-J. Dawson and A. DeFazio and
                          M. Delatycki and R. Dickson and J. Dixon and T. Edkins and
                          S. Edwards and G. Farshid and A. Fellows and G. Fenton and
                          M. Field and J. Flanagan and P. Fong and L. Forrest and S.
                          Fox and J. French and M. Friedlander and C. Gaff and M.
                          Gattas and P. George and S. Greening and M. Harris and S.
                          Hart and N. Hayward and J. Hopper and C. Hoskins and C. Hunt
                          and P. James and M. Jenkins and A. Kidd and J. Kirk and J.
                          Koehler and J. Kollias and S. Lakhani and M. Lawrence and J.
                          Lee and S. Li and G. Lindeman and L. Lipton and L. Lobb and
                          S. Loi and G. Mann and D. Marsh and S. A. McLachlan and B.
                          Meiser and R. Milne and S. Nightingale and S. O'Connell and
                          S. O'Sullivan and D. G. Ortega and N. Pachter and J.-M. Pang
                          and G. Pathak and B. Patterson and A. Pearn and K. Phillips
                          and E. Pieper and S. Ramus and E. Rickard and B. Robinson
                          and M. Saleh and A. Skandarajah and E. Salisbury and C.
                          Saunders and J. Saunus and R. Scott and C. Scott and A.
                          Sexton and A. Shelling and P. Simpson and M. Southey and A.
                          Spurdle and J. Taylor and R. Taylor and H. Thorne and A.
                          Trainer and K. Tucker and J. Visvader and L. Walker and R.
                          Williams and I. Winship and M. A. Young and M. Zaheed},
      title        = {{T}he impact of coding germline variants on contralateral
                      breast cancer risk and survival.},
      journal      = {The American journal of human genetics},
      volume       = {110},
      number       = {3},
      issn         = {0002-9297},
      address      = {New York, NY},
      publisher    = {Elsevier},
      reportid     = {DKFZ-2023-00472},
      pages        = {475 - 486},
      year         = {2023},
      abstract     = {Evidence linking coding germline variants in breast cancer
                      (BC)-susceptibility genes other than BRCA1, BRCA2, and CHEK2
                      with contralateral breast cancer (CBC) risk and breast
                      cancer-specific survival (BCSS) is scarce. The aim of this
                      study was to assess the association of protein-truncating
                      variants (PTVs) and rare missense variants (MSVs) in nine
                      known (ATM, BARD1, BRCA1, BRCA2, CHEK2, PALB2, RAD51C,
                      RAD51D, and TP53) and 25 suspected BC-susceptibility genes
                      with CBC risk and BCSS. Hazard ratios (HRs) and $95\%$
                      confidence intervals (CIs) were estimated with Cox
                      regression models. Analyses included 34,401 women of
                      European ancestry diagnosed with BC, including 676 CBCs and
                      3,449 BC deaths; the median follow-up was 10.9 years.
                      Subtype analyses were based on estrogen receptor (ER) status
                      of the first BC. Combined PTVs and pathogenic/likely
                      pathogenic MSVs in BRCA1, BRCA2, and TP53 and PTVs in CHEK2
                      and PALB2 were associated with increased CBC risk [HRs
                      $(95\%$ CIs): 2.88 (1.70-4.87), 2.31 (1.39-3.85), 8.29
                      (2.53-27.21), 2.25 (1.55-3.27), and 2.67 (1.33-5.35),
                      respectively]. The strongest evidence of association with
                      BCSS was for PTVs and pathogenic/likely pathogenic MSVs in
                      BRCA2 (ER-positive BC) and TP53 and PTVs in CHEK2 [HRs
                      $(95\%$ CIs): 1.53 (1.13-2.07), 2.08 (0.95-4.57), and 1.39
                      (1.13-1.72), respectively, after adjusting for tumor
                      characteristics and treatment]. HRs were essentially
                      unchanged when censoring for CBC, suggesting that these
                      associations are not completely explained by increased CBC
                      risk, tumor characteristics, or treatment. There was limited
                      evidence of associations of PTVs and/or rare MSVs with CBC
                      risk or BCSS for the 25 suspected BC genes. The CBC findings
                      are relevant to treatment decisions, follow-up, and
                      screening after BC diagnosis.},
      keywords     = {Female / Humans / Breast Neoplasms: genetics / Genes, BRCA2
                      / Germ-Line Mutation / Germ Cells / Genetic Predisposition
                      to Disease / breast cancer susceptibility genes (Other) /
                      coding germline variants (Other) / contralateral breast
                      cancer risk (Other) / survival (Other)},
      cin          = {C020 / C080 / B072 / B070 / TU01},
      ddc          = {570},
      cid          = {I:(DE-He78)C020-20160331 / I:(DE-He78)C080-20160331 /
                      I:(DE-He78)B072-20160331 / I:(DE-He78)B070-20160331 /
                      I:(DE-He78)TU01-20160331},
      pnm          = {312 - Funktionelle und strukturelle Genomforschung
                      (POF4-312)},
      pid          = {G:(DE-HGF)POF4-312},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:36827971},
      doi          = {10.1016/j.ajhg.2023.02.003},
      url          = {https://inrepo02.dkfz.de/record/274170},
}