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@ARTICLE{Painter:134812,
      author       = {J. N. Painter and T. A. O'Mara and A. P. Morris and T. H.
                      T. Cheng and M. Gorman and L. Martin and S. Hodson and A.
                      Jones and N. G. Martin and S. Gordon and A. K. Henders and
                      J. Attia and M. McEvoy and E. G. Holliday and R. J. Scott
                      and P. M. Webb and P. A. Fasching and M. W. Beckmann and A.
                      B. Ekici and A. Hein and M. Rübner and P. Hall and K. Czene
                      and T. Dörk and M. Dürst and P. Hillemanns and I.
                      Runnebaum and D. Lambrechts and F. Amant and D. Annibali and
                      J. Depreeuw and A. Vanderstichele and E. L. Goode and J. M.
                      Cunningham and S. C. Dowdy and S. J. Winham and J. Trovik
                      and E. Hoivik and H. M. J. Werner and C. Krakstad and K.
                      Ashton and G. Otton and T. Proietto and E. Tham and M. Mints
                      and S. Ahmed and C. S. Healey and M. Shah and P. D. P.
                      Pharoah and A. M. Dunning and J. Dennis and M. K. Bolla and
                      K. Michailidou and Q. Wang and J. P. Tyrer and J. L. Hopper
                      and J. Peto and A. J. Swerdlow and B. Burwinkel$^*$ and H.
                      Brenner$^*$ and A. Meindl and H. Brauch$^*$ and A. Lindblom
                      and J. Chang-Claude$^*$ and F. J. Couch and G. G. Giles and
                      V. N. Kristensen and A. Cox and K. T. Zondervan and D. R.
                      Nyholt and S. MacGregor and G. W. Montgomery and I.
                      Tomlinson and D. F. Easton and D. J. Thompson and A. B.
                      Spurdle},
      title        = {{G}enetic overlap between endometriosis and endometrial
                      cancer: evidence from cross-disease genetic correlation and
                      {GWAS} meta-analyses.},
      journal      = {Cancer medicine},
      volume       = {7},
      number       = {5},
      issn         = {2045-7634},
      address      = {Hoboken, NJ},
      publisher    = {Wiley},
      reportid     = {DKFZ-2018-00603},
      pages        = {1978 - 1987},
      year         = {2018},
      abstract     = {Epidemiological, biological, and molecular data suggest
                      links between endometriosis and endometrial cancer, with
                      recent epidemiological studies providing evidence for an
                      association between a previous diagnosis of endometriosis
                      and risk of endometrial cancer. We used genetic data as an
                      alternative approach to investigate shared biological
                      etiology of these two diseases. Genetic correlation analysis
                      of summary level statistics from genomewide association
                      studies (GWAS) using LD Score regression revealed moderate
                      but significant genetic correlation (rg  = 0.23,
                      P = 9.3 × 10-3 ), and SNP effect concordance analysis
                      provided evidence for significant SNP pleiotropy
                      (P = 6.0 × 10-3 ) and concordance in effect direction
                      (P = 2.0 × 10-3 ) between the two diseases.
                      Cross-disease GWAS meta-analysis highlighted 13 distinct
                      loci associated at P ≤ 10-5 with both endometriosis and
                      endometrial cancer, with one locus (SNP rs2475335) located
                      within PTPRD associated at a genomewide significant level
                      (P = 4.9 × 10-8 , OR = 1.11, $95\%$
                      CI = 1.07-1.15). PTPRD acts in the STAT3 pathway, which
                      has been implicated in both endometriosis and endometrial
                      cancer. This study demonstrates the value of cross-disease
                      genetic analysis to support epidemiological observations and
                      to identify biological pathways of relevance to multiple
                      diseases.},
      cin          = {C070 / G110 / L101 / C080 / C020 / L801},
      ddc          = {610},
      cid          = {I:(DE-He78)C070-20160331 / I:(DE-He78)G110-20160331 /
                      I:(DE-He78)L101-20160331 / I:(DE-He78)C080-20160331 /
                      I:(DE-He78)C020-20160331 / I:(DE-He78)L801-20160331},
      pnm          = {313 - Cancer risk factors and prevention (POF3-313)},
      pid          = {G:(DE-HGF)POF3-313},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:29608257},
      pmc          = {pmc:PMC5943470},
      doi          = {10.1002/cam4.1445},
      url          = {https://inrepo02.dkfz.de/record/134812},
}