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@ARTICLE{Hoppe:298978,
      author       = {R. Hoppe and S. Winter and W.-Y. Lo and K. Michailidou and
                      M. K. Bolla and R. Keeman and Q. Wang and J. Dennis and M.
                      Lush and K. R. Kalari and M. P. Goetz and L. Wang and J.
                      Cairns and R. Weinshilboum and L. Shepherd and B. E. Chen
                      and L. Häberle and M. Ruebner and M. W. Beckmann and W. He
                      and N. L. Larson and S. M. Armasu and W. Schroth and B.
                      Chowbay and C. C. Khor and M. Abubakar and A. C. Antoniou
                      and T. Brüning and J. E. Castelao and J. Chang-Claude$^*$
                      and Nbcs Collaborators and T. Dörk and D. M. Eccles and J.
                      D. Figueroa and M. Gago-Dominguez and J. A. García-Sáenz
                      and M. Gündert$^*$ and C. C. Hack and U. Hamann$^*$ and S.
                      Han and M. J. Hooning and H. Huebner and Abctb Investigators
                      and E. M. John and Y.-D. Ko and V. N. Kristensen and S. Linn
                      and S. Margolin and D. Mavroudis and H. Nevanlinna and P.
                      Neven and N. Obi and T.-W. Park-Simon and K. Pylkäs and M.
                      U. Rashid and A. Romero and E. Saloustros and E. J. Sawyer
                      and W. J. Tapper and I. Tomlinson and C. Wendt and R.
                      Winqvist and A. M. Dunning and J. Simard and P. Hall and P.
                      D. P. Pharoah and M. Schwab and F. J. Couch and K. Czene and
                      P. A. Fasching and D. F. Easton and M. K. Schmidt and J. N.
                      Ingle and H. Brauch$^*$},
      title        = {{L}essons learned from a candidate gene study investigating
                      aromatase inhibitor treatment outcome in breast cancer.},
      journal      = {npj Breast cancer},
      volume       = {11},
      number       = {1},
      issn         = {2374-4677},
      address      = {London},
      publisher    = {Nature Publ. Group},
      reportid     = {DKFZ-2025-00398},
      pages        = {18},
      year         = {2025},
      abstract     = {The role of germline genetics in adjuvant aromatase
                      inhibitor (AI) treatment efficacy in ER-positive breast
                      cancer is poorly understood. We employed a two-stage
                      candidate gene approach to examine associations between
                      survival endpoints and common germline variants in 753
                      endocrine resistance-related genes. For a discovery cohort,
                      we screened the Breast Cancer Association Consortium
                      database (n ≥ 90,000 cases) and retrieved 2789 AI-treated
                      patients. Cox model-based analysis revealed 125 variants
                      associated with overall, distant relapse-free, and
                      relapse-free survival (p-value ≤ 1E-04). In validation
                      analysis using five independent cohorts (n = 8857), none of
                      the six selected candidates representing major linkage
                      blocks at CELA2B/CASP9, NR1I2/GSK3B, LRP1B, and MIR143HG
                      (CARMN) were validated. We discuss potential reasons for the
                      failed validation and replication of published findings,
                      including study/treatment heterogeneity and other
                      limitations inherent to genomic treatment outcome studies.
                      For the future, we envision prospective longitudinal studies
                      with sufficiently long follow-up and endpoints that reflect
                      the dynamic nature of endocrine resistance.},
      cin          = {C020 / TU01 / C080 / B072},
      ddc          = {610},
      cid          = {I:(DE-He78)C020-20160331 / I:(DE-He78)TU01-20160331 /
                      I:(DE-He78)C080-20160331 / I:(DE-He78)B072-20160331},
      pnm          = {313 - Krebsrisikofaktoren und Prävention (POF4-313)},
      pid          = {G:(DE-HGF)POF4-313},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:39971965},
      doi          = {10.1038/s41523-025-00733-y},
      url          = {https://inrepo02.dkfz.de/record/298978},
}