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@ARTICLE{Figlioli:212550,
      author       = {G. Figlioli and A. Billaud and T. U. Ahearn and N. N.
                      Antonenkova and H. Becher and M. W. Beckmann and S.
                      Behrens$^*$ and J. Benitez and M. Bermisheva and M. J. Blok
                      and N. V. Bogdanova and B. Bonanni and B. Burwinkel$^*$ and
                      N. J. Camp and A. Campbell and J. E. Castelao and M. H.
                      Cessna and S. J. Chanock and K. Czene and P. Devilee and T.
                      Dörk and C. Engel and M. Eriksson and P. A. Fasching and J.
                      D. Figueroa and M. Gabrielson and M. Gago-Dominguez and M.
                      García-Closas and A. González-Neira and F. Grassmann and
                      P. Guénel and M. Gündert$^*$ and A. Hadjisavvas and E.
                      Hahnen and P. Hall and U. Hamann$^*$ and P. A. Harrington
                      and W. He and P. Hillemanns and A. Hollestelle and M. J.
                      Hooning and R. Hoppe and A. Howell and K. Humphreys and A.
                      Jager and A. Jakubowska and E. K. Khusnutdinova and Y.-D. Ko
                      and V. N. Kristensen and A. Lindblom and J. Lissowska and J.
                      Lubiński and A. Mannermaa and S. Manoukian and S. Margolin
                      and D. Mavroudis and W. G. Newman and N. Obi and M. I.
                      Panayiotidis and M. U. Rashid$^*$ and V. Rhenius and M. A.
                      Rookus and E. Saloustros and E. J. Sawyer and R. K.
                      Schmutzler and M. Shah and R. Sironen and M. C. Southey and
                      M. Suvanto and R. A. E. M. Tollenaar and I. Tomlinson and T.
                      Truong and L. E. van der Kolk and E. M. van Veen and B.
                      Wappenschmidt and X. R. Yang and M. K. Bolla and J. Dennis
                      and A. M. Dunning and D. F. Easton and M. Lush and K.
                      Michailidou and P. D. P. Pharoah and Q. Wang and M. A. Adank
                      and M. K. Schmidt and I. L. Andrulis and J. Chang-Claude$^*$
                      and H. Nevanlinna and G. Chenevix-Trench and D. G. Evans and
                      R. L. Milne and P. Radice and P. Peterlongo},
      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 T. F. Bathen and E. Borgen and B. Fritzman and Ø.
                          Garred and G. A. Geitvik and S. Hofvind and A. Langerød and
                          O. C. Lingjærde and G. M. Mælandsmo and H. G. Russnes and
                          H. K. Skjerven and T. Sørlie and G. I. G. 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 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        = {{FANCM} missense variants and breast cancer risk: a
                      case-control association study of 75,156 {E}uropean women.},
      journal      = {European journal of human genetics},
      volume       = {31},
      number       = {5},
      issn         = {1018-4813},
      address      = {Basingstoke},
      publisher    = {Stockton Press},
      reportid     = {DKFZ-2023-00235},
      pages        = {578-587},
      year         = {2023},
      note         = {2023 May;31(5):578-587},
      abstract     = {Evidence from literature, including the BRIDGES study,
                      indicates that germline protein truncating variants (PTVs)
                      in FANCM confer moderately increased risk of ER-negative and
                      triple-negative breast cancer (TNBC), especially for women
                      with a family history of the disease. Association between
                      FANCM missense variants (MVs) and breast cancer risk has
                      been postulated. In this study, we further used the BRIDGES
                      study to test 689 FANCM MVs for association with breast
                      cancer risk, overall and in ER-negative and TNBC subtypes,
                      in 39,885 cases (7566 selected for family history) and
                      35,271 controls of European ancestry. Sixteen common MVs
                      were tested individually; the remaining rare 673 MVs were
                      tested by burden analyses considering their position and
                      pathogenicity score. We also conducted a meta-analysis of
                      our results and those from published studies. We did not
                      find evidence for association for any of the 16 variants
                      individually tested. The rare MVs were significantly
                      associated with increased risk of ER-negative breast cancer
                      by burden analysis comparing familial cases to controls (OR
                      = 1.48; $95\%$ CI 1.07-2.04; P = 0.017). Higher ORs were
                      found for the subgroup of MVs located in functional domains
                      or predicted to be pathogenic. The meta-analysis indicated
                      that FANCM MVs overall are associated with breast cancer
                      risk (OR = 1.22; $95\%$ CI 1.08-1.38; P = 0.002). Our
                      results support the definition from previous analyses of
                      FANCM as a moderate-risk breast cancer gene and provide
                      evidence that FANCM MVs could be low/moderate risk factors
                      for ER-negative and TNBC subtypes. Further genetic and
                      functional analyses are necessary to clarify better the
                      increased risks due to FANCM MVs.},
      cin          = {C020 / C080 / B072 / B070},
      ddc          = {610},
      cid          = {I:(DE-He78)C020-20160331 / I:(DE-He78)C080-20160331 /
                      I:(DE-He78)B072-20160331 / I:(DE-He78)B070-20160331},
      pnm          = {313 - Krebsrisikofaktoren und Prävention (POF4-313)},
      pid          = {G:(DE-HGF)POF4-313},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:36707629},
      doi          = {10.1038/s41431-022-01257-w},
      url          = {https://inrepo02.dkfz.de/record/212550},
}