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@ARTICLE{Barrdahl:131766,
      author       = {M. Barrdahl$^*$ and F. Canzian$^*$ and M. M. Gaudet and S.
                      M. Gapstur and A. Trichopoulou and K. Tsilidis and C. H. van
                      Gils and S. Borgquist and E. Weiderpass and K.-T. Khaw and
                      G. G. Giles and R. L. Milne and L. Le Marchand and C. Haiman
                      and S. Lindström and P. Kraft and D. J. Hunter and R.
                      Ziegler and S. J. Chanock and X. R. Yang and J. E. Buring
                      and I.-M. Lee and R. Kaaks$^*$ and D. Campa},
      title        = {{A} comprehensive analysis of polymorphic variants in
                      steroid hormone and insulin-like growth factor-1 metabolism
                      and risk of in situ breast cancer: {R}esults from the
                      {B}reast and {P}rostate {C}ancer {C}ohort {C}onsortium.},
      journal      = {International journal of cancer},
      volume       = {142},
      number       = {6},
      issn         = {0020-7136},
      address      = {Bognor Regis},
      publisher    = {Wiley-Liss},
      reportid     = {DKFZ-2018-00063},
      pages        = {1182 - 1188},
      year         = {2018},
      abstract     = {We assessed the association between 1,414 single nucleotide
                      polymorphisms (SNPs) in genes involved in synthesis and
                      metabolism of steroid hormones and insulin-like growth
                      factor 1, and risk of breast cancer in situ (BCIS), with the
                      aim of determining whether any of these were disease
                      specific. This was carried out using 1,062 BCIS cases and
                      10,126 controls as well as 6,113 invasive breast cancer
                      cases from the Breast and Prostate Cancer Cohort Consortium
                      (BPC3). Three SNPs showed at least one nominally significant
                      association in homozygous minor versus homozygous major
                      models. ACVR2A-rs2382112 (ORhom  = 3.05,
                      $95\%CI = 1.72-5.44,$ Phom  = 1.47 × 10-4 ),
                      MAST2-rs12124649 (ORhom  = 1.73, $95\%$ CI =1.18-2.54,
                      Phom  = 5.24 × 10-3 ), and INSR-rs10500204 (ORhom
                       = 1.96, $95\%$ CI = 1.44-2.67, Phom =1.68 × 10-5
                      ) were associated with increased risk of BCIS; however, only
                      the latter association was significant after correcting for
                      multiple testing. Furthermore, INSR-rs10500204 was more
                      strongly associated with the risk of BCIS than invasive
                      disease in case-only analyses using the homozygous minor
                      versus homozygous major model (ORhom  = 1.78, $95\%$
                      CI = 1.30-2.44, Phom  = 3.23 × 10-4 ). The SNP
                      INSR-rs10500204 is located in an intron of the INSR gene and
                      is likely to affect binding of the promyelocytic leukemia
                      (PML) protein. The PML gene is known as a tumor suppressor
                      and growth regulator in cancer. However, it is not clear on
                      what pathway the A-allele of rs10500204 could operate to
                      influence the binding of the protein. Hence, functional
                      studies are warranted to investigate this further.},
      cin          = {C020 / C055},
      ddc          = {610},
      cid          = {I:(DE-He78)C020-20160331 / I:(DE-He78)C055-20160331},
      pnm          = {313 - Cancer risk factors and prevention (POF3-313)},
      pid          = {G:(DE-HGF)POF3-313},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:29114882},
      doi          = {10.1002/ijc.31145},
      url          = {https://inrepo02.dkfz.de/record/131766},
}