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@ARTICLE{EscalaGarcia:172524,
      author       = {M. Escala-Garcia and S. Canisius and R. Keeman and J.
                      Beesley and H. Anton-Culver and V. Arndt$^*$ and A.
                      Augustinsson and H. Becher and M. W. Beckmann and S.
                      Behrens$^*$ and M. Bermisheva and S. E. Bojesen and M. K.
                      Bolla and H. Brenner$^*$ and F. Canzian$^*$ and J. E.
                      Castelao and J. Chang-Claude$^*$ and S. J. Chanock and F. J.
                      Couch and K. Czene and M. B. Daly and J. Dennis and P.
                      Devilee and T. Dörk and A. M. Dunning and D. F. Easton and
                      A. B. Ekici and A. H. Eliassen and P. A. Fasching and H.
                      Flyger and M. Gago-Dominguez and M. García-Closas and J. A.
                      García-Sáenz and J. Geisler and G. G. Giles and M. Grip
                      and M. Gündert$^*$ and E. Hahnen and C. A. Haiman and N.
                      Håkansson and P. Hall and U. Hamann$^*$ and J. M.
                      Hartikainen and B. A. M. Heemskerk-Gerritsen and A.
                      Hollestelle and R. Hoppe and J. L. Hopper and D. J. Hunter
                      and W. Jacot and A. Jakubowska and E. M. John and A. Y.
                      Jung$^*$ and R. Kaaks$^*$ and E. Khusnutdinova and L. B.
                      Koppert and P. Kraft and V. N. Kristensen and A. W. Kurian
                      and D. Lambrechts and L. Le Marchand and A. Lindblom and R.
                      N. Luben and J. Lubiński and A. Mannermaa and M.
                      Manoochehri$^*$ and S. Margolin and D. Mavroudis and T. A.
                      Muranen and H. Nevanlinna and A. F. Olshan and H. Olsson and
                      T.-W. Park-Simon and A. V. Patel and P. Peterlongo and P. D.
                      P. Pharoah and K. Punie and P. Radice and G. Rennert and H.
                      S. Rennert and A. Romero and R. Roylance and T. Rüdiger and
                      M. Ruebner and E. Saloustros and E. J. Sawyer and R. K.
                      Schmutzler and M. J. Schoemaker and C. Scott and M. C.
                      Southey and H. Surowy$^*$ and A. J. Swerdlow and R. M.
                      Tamimi and L. R. Teras and E. Thomas and I. Tomlinson and M.
                      A. Troester and C. M. Vachon and Q. Wang and R. Winqvist and
                      A. Wolk and A. Ziogas and K. Michailidou and G.
                      Chenevix-Trench and T. Bachelot and M. K. Schmidt},
      collaboration = {k. Investigators},
      title        = {{G}ermline variants and breast cancer survival in patients
                      with distant metastases at primary breast cancer diagnosis.},
      journal      = {Scientific reports},
      volume       = {11},
      number       = {1},
      issn         = {2045-2322},
      address      = {[London]},
      publisher    = {Macmillan Publishers Limited, part of Springer Nature},
      reportid     = {DKFZ-2021-02072},
      pages        = {19787},
      year         = {2021},
      abstract     = {Breast cancer metastasis accounts for most of the deaths
                      from breast cancer. Identification of germline variants
                      associated with survival in aggressive types of breast
                      cancer may inform understanding of breast cancer progression
                      and assist treatment. In this analysis, we studied the
                      associations between germline variants and breast cancer
                      survival for patients with distant metastases at primary
                      breast cancer diagnosis. We used data from the Breast Cancer
                      Association Consortium (BCAC) including 1062 women of
                      European ancestry with metastatic breast cancer, 606 of whom
                      died of breast cancer. We identified two germline variants
                      on chromosome 1, rs138569520 and rs146023652, significantly
                      associated with breast cancer-specific survival (P = 3.19 ×
                      10-8 and 4.42 × 10-8). In silico analysis suggested a
                      potential regulatory effect of the variants on the nearby
                      target genes SDE2 and H3F3A. However, the variants showed no
                      evidence of association in a smaller replication dataset.
                      The validation dataset was obtained from the SNPs to Risk of
                      Metastasis (StoRM) study and included 293 patients with
                      metastatic primary breast cancer at diagnosis. Ultimately,
                      larger replication studies are needed to confirm the
                      identified associations.},
      cin          = {C071 / C070 / C020 / C120 / HD01 / C055 / C080 / B072 /
                      B070},
      ddc          = {600},
      cid          = {I:(DE-He78)C071-20160331 / I:(DE-He78)C070-20160331 /
                      I:(DE-He78)C020-20160331 / I:(DE-He78)C120-20160331 /
                      I:(DE-He78)HD01-20160331 / I:(DE-He78)C055-20160331 /
                      I:(DE-He78)C080-20160331 / I:(DE-He78)B072-20160331 /
                      I:(DE-He78)B070-20160331},
      pnm          = {313 - Krebsrisikofaktoren und Prävention (POF4-313)},
      pid          = {G:(DE-HGF)POF4-313},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:34611289},
      doi          = {10.1038/s41598-021-99409-3},
      url          = {https://inrepo02.dkfz.de/record/172524},
}