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@ARTICLE{Muranen:124380,
      author       = {T. A. Muranen and D. Greco and C. Blomqvist and K.
                      Aittomäki and S. Khan and F. Hogervorst and S. Verhoef and
                      P. D. P. Pharoah and A. M. Dunning and M. Shah and R. Luben
                      and S. E. Bojesen and B. G. Nordestgaard and M. Schoemaker
                      and A. Swerdlow and M. García-Closas and J. Figueroa and T.
                      Dörk and N. V. Bogdanova and P. Hall and J. Li and E.
                      Khusnutdinova and M. Bermisheva and V. Kristensen and A.-L.
                      Borresen-Dale and N. Investigators and J. Peto and I. Dos
                      Santos Silva and F. J. Couch and J. E. Olson and P.
                      Hillemans and T.-W. Park-Simon and H. Brauch$^*$ and U.
                      Hamann$^*$ and B. Burwinkel$^*$ and F. Marme and A. Meindl
                      and R. K. Schmutzler and A. Cox and S. S. Cross and E. J.
                      Sawyer and I. Tomlinson and D. Lambrechts and M. Moisse and
                      A. Lindblom and S. Margolin and A. Hollestelle and J. W. M.
                      Martens and P. A. Fasching and M. W. Beckmann and I. L.
                      Andrulis and J. A. Knight and k. Investigators and H.
                      Anton-Culver and A. Ziogas and G. G. Giles and R. L. Milne
                      and H. Brenner$^*$ and V. Arndt$^*$ and A. Mannermaa and
                      V.-M. Kosma and J. Chang$^*$ and A. Rudolph$^*$ and P.
                      Devilee and C. Seynaeve and J. L. Hopper and M. C. Southey
                      and E. M. John and A. S. Whittemore and M. K. Bolla and Q.
                      Wang and K. Michailidou and J. Dennis and D. F. Easton and
                      M. K. Schmidt and H. Nevanlinna},
      title        = {{G}enetic modifiers of {CHEK}2*1100del{C}-associated breast
                      cancer risk.},
      journal      = {Genetics in medicine},
      volume       = {19},
      number       = {5},
      issn         = {1530-0366},
      address      = {Baltimore, Md.},
      publisher    = {Lippincott, Williams $\&$ Wilkins},
      reportid     = {DKFZ-2017-01259},
      pages        = {599 - 603},
      year         = {2017},
      abstract     = {CHEK2*1100delC is a founder variant in European populations
                      that confers a two- to threefold increased risk of breast
                      cancer (BC). Epidemiologic and family studies have suggested
                      that the risk associated with CHEK2*1100delC is modified by
                      other genetic factors in a multiplicative fashion. We have
                      investigated this empirically using data from the Breast
                      Cancer Association Consortium (BCAC).Using genotype data
                      from 39,139 (624 1100delC carriers) BC patients and 40,063
                      (224) healthy controls from 32 BCAC studies, we analyzed the
                      combined risk effects of CHEK2*1100delC and 77 common
                      variants in terms of a polygenic risk score (PRS) and
                      pairwise interaction.The PRS conferred odds ratios (OR) of
                      1.59 $(95\%$ CI: 1.21-2.09) per standard deviation for BC
                      for CHEK2*1100delC carriers and 1.58 (1.55-1.62) for
                      noncarriers. No evidence of deviation from the
                      multiplicative model was found. The OR for the highest
                      quintile of the PRS was 2.03 (0.86-4.78) for CHEK2*1100delC
                      carriers, placing them in the high risk category according
                      to UK NICE guidelines. The OR for the lowest quintile was
                      0.52 (0.16-1.74), indicating a lifetime risk close to the
                      population average.Our results confirm the multiplicative
                      nature of risk effects conferred by CHEK2*1100delC and the
                      common susceptibility variants. Furthermore, the PRS could
                      identify carriers at a high lifetime risk for clinical
                      actions.Genet Med advance online publication 06 October
                      2016.},
      cin          = {B072 / C080 / C020 / C070 / G110 / C071 / L801 / L101},
      ddc          = {570},
      cid          = {I:(DE-He78)B072-20160331 / I:(DE-He78)C080-20160331 /
                      I:(DE-He78)C020-20160331 / I:(DE-He78)C070-20160331 /
                      I:(DE-He78)G110-20160331 / I:(DE-He78)C071-20160331 /
                      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:27711073},
      pmc          = {pmc:PMC5382131},
      doi          = {10.1038/gim.2016.147},
      url          = {https://inrepo02.dkfz.de/record/124380},
}