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@ARTICLE{Drk:144683,
      author       = {T. Dörk and P. Peterlongo and A. Mannermaa and M. K. Bolla
                      and Q. Wang and J. Dennis and T. Ahearn and I. L. Andrulis
                      and H. Anton-Culver and V. Arndt$^*$ and K. J. Aronson and
                      A. Augustinsson and L. E. B. Freeman and M. W. Beckmann and
                      A. Beeghly-Fadiel and S. Behrens$^*$ and M. Bermisheva and
                      C. Blomqvist and N. V. Bogdanova and S. E. Bojesen and H.
                      Brauch and H. Brenner$^*$ and B. Burwinkel$^*$ and F.
                      Canzian$^*$ and T. L. Chan and J. Chang-Claude$^*$ and S. J.
                      Chanock and J.-Y. Choi and H. Christiansen and C. L. Clarke
                      and F. J. Couch and K. Czene and M. B. Daly and I.
                      Dos-Santos-Silva and M. Dwek and D. M. Eccles and A. B.
                      Ekici and M. Eriksson and D. G. Evans and P. A. Fasching and
                      J. Figueroa and H. Flyger and L. Fritschi and M. Gabrielson
                      and M. Gago-Dominguez and C. Gao and S. M. Gapstur and M.
                      García-Closas and J. A. García-Sáenz and M. M. Gaudet and
                      G. G. Giles and M. S. Goldberg and D. E. Goldgar and P.
                      Guénel and L. Haeberle and C. A. Haiman and N. Håkansson
                      and P. Hall and U. Hamann$^*$ and M. Hartman and J. Hauke
                      and A. Hein and P. Hillemanns and F. B. L. Hogervorst and M.
                      J. Hooning and J. L. Hopper and T. Howell and D. Huo and H.
                      Ito and M. Iwasaki and A. Jakubowska and W. Janni and E. M.
                      John and A. Jung$^*$ and R. Kaaks$^*$ and D. Kang and P. M.
                      Kapoor and E. Khusnutdinova and S.-W. Kim and C. M. Kitahara
                      and S. Koutros and P. Kraft and V. N. Kristensen and A.
                      Kwong and D. Lambrechts and L. L. Marchand and J. Li and S.
                      Lindström and M. Linet and W.-Y. Lo and J. Long and A.
                      Lophatananon and J. Lubiński and M. Manoochehri and S.
                      Manoukian and S. Margolin and E. Martinez and K. Matsuo and
                      D. Mavroudis and A. Meindl and U. Menon and R. L. Milne and
                      N. A. Mohd Taib and K. Muir and A. M. Mulligan and S. L.
                      Neuhausen and H. Nevanlinna and P. Neven and W. G. Newman
                      and K. Offit and O. I. Olopade and A. F. Olshan and J. E.
                      Olson and H. Olsson and S. K. Park and T.-W. Park-Simon and
                      J. Peto and D. Plaseska-Karanfilska and E. Pohl-Rescigno and
                      N. Presneau and B. Rack and P. Radice and M. U. Rashid and
                      G. Rennert and H. S. Rennert and A. Romero and M. Ruebner
                      and E. Saloustros and M. K. Schmidt and R. K. Schmutzler and
                      M. O. Schneider and M. J. Schoemaker and C. Scott and C.-Y.
                      Shen and X.-O. Shu and J. Simard and S. Slager and S.
                      Smichkoska and M. C. Southey and J. J. Spinelli and J. Stone
                      and H. Surowy$^*$ and A. J. Swerdlow and R. M. Tamimi and W.
                      J. Tapper and S. H. Teo and M. B. Terry and A. E. Toland and
                      R. A. E. M. Tollenaar and D. Torres and G. Torres-Mejía and
                      M. A. Troester and T. Truong and S. Tsugane and M. Untch and
                      C. M. Vachon and A. M. W. v. d. Ouweland and E. M. v. Veen
                      and J. Vijai and C. Wendt and A. Wolk and J.-C. Yu and W.
                      Zheng and A. Ziogas and E. Ziv and A. M. Dunning and P. D.
                      P. Pharoah and D. Schindler and P. Devilee and D. F. Easton
                      and R. Balleine and R. Baxter and S. Braye and J. Carpenter
                      and J. Dahlstrom and J. Forbes and C. S. Lee and D. Marsh
                      and A. Morey and N. Pathmanathan and R. Scott and P. Simpson
                      and A. Spigelman and N. Wilcken and D. Yip and N. Zeps and
                      A.-L. Børresen-Dale and G. I. Grenaker Alnæs and K. K.
                      Sahlberg and L. Ottestad and R. Kåresen and E. Schlichting
                      and M. M. Holmen and T. Sauer and V. Haakensen and O.
                      Engebråten and B. Naume and A. Fosså and C. E. Kiserud and
                      K. V. Reinertsen and Å. Helland and M. Riis and J. Geisler},
      collaboration = {A. Investigators and {NBCS Collaborators}},
      title        = {{T}wo truncating variants in {FANCC} and breast cancer
                      risk.},
      journal      = {Scientific reports},
      volume       = {9},
      number       = {1},
      issn         = {2045-2322},
      address      = {[London]},
      publisher    = {Macmillan Publishers Limited, part of Springer Nature},
      reportid     = {DKFZ-2019-02125},
      pages        = {12524},
      year         = {2019},
      abstract     = {Fanconi anemia (FA) is a genetically heterogeneous disorder
                      with 22 disease-causing genes reported to date. In some FA
                      genes, monoallelic mutations have been found to be
                      associated with breast cancer risk, while the risk
                      associations of others remain unknown. The gene for FA type
                      C, FANCC, has been proposed as a breast cancer
                      susceptibility gene based on epidemiological and sequencing
                      studies. We used the Oncoarray project to genotype two
                      truncating FANCC variants (p.R185X and p.R548X) in 64,760
                      breast cancer cases and 49,793 controls of European descent.
                      FANCC mutations were observed in 25 cases (14 with p.R185X,
                      11 with p.R548X) and 26 controls (18 with p.R185X, 8 with
                      p.R548X). There was no evidence of an association with the
                      risk of breast cancer, neither overall (odds ratio 0.77,
                      $95\%CI$ 0.44-1.33, p = 0.4) nor by histology, hormone
                      receptor status, age or family history. We conclude that the
                      breast cancer risk association of these two FANCC variants,
                      if any, is much smaller than for BRCA1, BRCA2 or PALB2
                      mutations. If this applies to all truncating variants in
                      FANCC it would suggest there are differences between FA
                      genes in their roles on breast cancer risk and demonstrates
                      the merit of large consortia for clarifying risk
                      associations of rare variants.},
      cin          = {C070 / C120 / C020 / C080 / C055 / B072 / L101},
      ddc          = {600},
      cid          = {I:(DE-He78)C070-20160331 / I:(DE-He78)C120-20160331 /
                      I:(DE-He78)C020-20160331 / I:(DE-He78)C080-20160331 /
                      I:(DE-He78)C055-20160331 / I:(DE-He78)B072-20160331 /
                      I:(DE-He78)L101-20160331},
      pnm          = {313 - Cancer risk factors and prevention (POF3-313)},
      pid          = {G:(DE-HGF)POF3-313},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:31467304},
      doi          = {10.1038/s41598-019-48804-y},
      url          = {https://inrepo02.dkfz.de/record/144683},
}