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@ARTICLE{Shimelis:120420,
      author       = {H. Shimelis and R. L. S. Mesman and C. Von Nicolai and A.
                      Ehlen and L. Guidugli and C. Martin and F. M. G. R. Calléja
                      and H. Meeks and E. Hallberg and J. Hinton and J. Lilyquist
                      and C. Hu and C. M. Aalfs and K. Aittomäki and I. Andrulis
                      and H. Anton-Culver and V. Arndt$^*$ and M. W. Beckmann and
                      J. Benitez and N. V. Bogdanova and S. E. Bojesen and M. K.
                      Bolla and A.-L. Borresen-Dale and H. Brauch$^*$ and P.
                      Brennan and H. Brenner$^*$ and A. Broeks and B. Brouwers and
                      T. Brüning and B. Burwinkel$^*$ and J. Chang-Claude$^*$ and
                      G. Chenevix-Trench and C.-Y. Cheng and J.-Y. Choi and J. M.
                      Collée and A. Cox and S. S. Cross and K. Czene and H.
                      Darabi and J. Dennis and T. Dörk and I. Dos-Santos-Silva
                      and A. M. Dunning and P. A. Fasching and J. Figueroa and H.
                      Flyger and M. García-Closas and G. G. Giles and G. Glendon
                      and P. Guénel and C. A. Haiman and P. Hall and U.
                      Hamann$^*$ and M. Hartman and F. B. Hogervorst and A.
                      Hollestelle and J. L. Hopper and H. Ito and A. Jakubowska
                      and D. Kang and V.-M. Kosma and V. Kristensen and K.-N. Lai
                      and D. Lambrechts and L. L. Marchand and J. Li and A.
                      Lindblom and A. Lophatananon and J. Lubinski and E.
                      Machackova and A. Mannermaa and S. Margolin and F. Marme and
                      K. Matsuo and H. Miao and K. Michailidou and R. L. Milne and
                      K. Muir and S. L. Neuhausen and H. Nevanlinna and J. E.
                      Olson and C. Olswold and J. J. C. Oosterwijk and A. Osorio
                      and P. Peterlongo and J. Peto and P. D. P. Pharoah and K.
                      Pylkäs and P. Radice and M. U. Rashid and V. Rhenius and A.
                      Rudolph$^*$ and S. Sangrajrang and E. J. Sawyer and M. K.
                      Schmidt and M. J. Schoemaker and C. Seynaeve and M. Shah and
                      C.-Y. Shen and M. Shrubsole and X.-O. Shu and S. Slager and
                      M. C. Southey and D. O. Stram and A. Swerdlow and S. H. Teo
                      and I. Tomlinson and D. Torres and T. Truong and C. J. van
                      Asperen and L. E. van der Kolk and Q. Wang and R. Winqvist
                      and A. H. Wu and J.-C. Yu and W. Zheng and Y. Zheng and J.
                      Leary and L. Walker and L. Foretova and F. Fostira and K. B.
                      M. Claes and L. Varesco and S. Moghadasi and D. F. Easton
                      and A. Spurdle and P. Devilee and H. Vrieling and A. N. A.
                      Monteiro and D. E. Goldgar and A. Carreira and M. P. G.
                      Vreeswijk and F. J. Couch},
      collaboration = {f. k. Investigators and for {NBCS Collaborators}},
      title        = {{BRCA}2 {H}ypomorphic {M}issense {V}ariants {C}onfer
                      {M}oderate {R}isks of {B}reast {C}ancer.},
      journal      = {Cancer research},
      volume       = {77},
      number       = {11},
      issn         = {1538-7445},
      address      = {Philadelphia, Pa.},
      publisher    = {AACR},
      reportid     = {DKFZ-2017-00849},
      pages        = {2789-2799},
      year         = {2017},
      abstract     = {Breast cancer risks conferred by many germline missense
                      variants in the BRCA1 and BRCA2 genes, often referred to as
                      variants of uncertain significance (VUS), have not been
                      established. In this study, associations between 19 BRCA1
                      and 33 BRCA2 missense substitution variants and breast
                      cancer risk were investigated through a breast cancer
                      case-control study using genotyping data from 38 studies of
                      predominantly European ancestry (41,890 cases and 41,607
                      controls) and nine studies of Asian ancestry (6,269 cases
                      and 6,624 controls). The BRCA2 c.9104A>C, p.Tyr3035Ser (OR =
                      2.52; P = 0.04), and BRCA1 c.5096G>A, p.Arg1699Gln (OR =
                      4.29; P = 0.009) variant were associated with moderately
                      increased risks of breast cancer among Europeans, whereas
                      BRCA2 c.7522G>A, p.Gly2508Ser (OR = 2.68; P = 0.004), and
                      c.8187G>T, p.Lys2729Asn (OR = 1.4; P = 0.004) were
                      associated with moderate and low risks of breast cancer
                      among Asians. Functional characterization of the BRCA2
                      variants using four quantitative assays showed reduced BRCA2
                      activity for p.Tyr3035Ser compared with wild-type. Overall,
                      our results show how BRCA2 missense variants that influence
                      protein function can confer clinically relevant, moderately
                      increased risks of breast cancer, with potential
                      implications for risk management guidelines in women with
                      these specific variants. Cancer Res; 77(11); 1-11. ©2017
                      AACR.},
      cin          = {C071 / C070 / G110 / C080 / C020 / B072 / L801 / L101},
      ddc          = {610},
      cid          = {I:(DE-He78)C071-20160331 / I:(DE-He78)C070-20160331 /
                      I:(DE-He78)G110-20160331 / I:(DE-He78)C080-20160331 /
                      I:(DE-He78)C020-20160331 / I:(DE-He78)B072-20160331 /
                      I:(DE-He78)L801-20160331 / 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:28283652},
      doi          = {10.1158/0008-5472.CAN-16-2568},
      url          = {https://inrepo02.dkfz.de/record/120420},
}