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@ARTICLE{Hayat:300360,
      author       = {M. Hayat and W. C. Chen and C. Babb de Villiers and S.
                      Hyuck Lee and C. Curtis and R. Newton and T. Waterboer$^*$
                      and F. Sitas and D. Bradshaw and M. Muchengeti and E. Singh
                      and C. M. Lewis and M. Ramsay and C. G. Mathew and J.-T.
                      Brandenburg},
      title        = {{G}enome-wide association study identifies common variants
                      associated with breast cancer in {S}outh {A}frican {B}lack
                      women.},
      journal      = {Nature Communications},
      volume       = {16},
      number       = {1},
      issn         = {2041-1723},
      address      = {[London]},
      publisher    = {Springer Nature},
      reportid     = {DKFZ-2025-00794},
      pages        = {3542},
      year         = {2025},
      abstract     = {Genome-wide association studies (GWAS) have characterized
                      the contribution of common variants to breast cancer (BC)
                      risk in populations of European ancestry, however GWAS have
                      not been reported in resident African populations. This GWAS
                      included 2485 resident African BC cases and 1101 population
                      matched controls. Two risk loci were identified, located
                      between UNC13C and RAB27A on chromosome 15 (rs7181788, p =
                      1.01 × 10-08) and in USP22 on chromosome 17 (rs899342, p =
                      4.62 × 10-08). Several genome-wide significant signals were
                      also detected in hormone receptor subtype analysis. The
                      novel loci did not replicate in BC GWAS data from
                      populations of West Africa ancestry suggesting genetic
                      heterogeneity in different African populations, but further
                      validation of these findings is needed. A European ancestry
                      derived polygenic risk model for BC explained only $0.79\%$
                      of variance in our data. Larger studies in pan-African
                      populations are needed to further define the genetic
                      contribution to BC risk.},
      keywords     = {Humans / Breast Neoplasms: genetics / Breast Neoplasms:
                      ethnology / Female / Genome-Wide Association Study / Black
                      People: genetics / Genetic Predisposition to Disease /
                      Polymorphism, Single Nucleotide / South Africa / Middle Aged
                      / Adult / Case-Control Studies / White People: genetics /
                      Thiolester Hydrolases: genetics / rab GTP-Binding Proteins:
                      genetics / Chromosomes, Human, Pair 17: genetics /
                      Multifactorial Inheritance / Thiolester Hydrolases (NLM
                      Chemicals) / rab GTP-Binding Proteins (NLM Chemicals)},
      cin          = {D320},
      ddc          = {500},
      cid          = {I:(DE-He78)D320-20160331},
      pnm          = {314 - Immunologie und Krebs (POF4-314)},
      pid          = {G:(DE-HGF)POF4-314},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:40229280},
      doi          = {10.1038/s41467-025-58789-0},
      url          = {https://inrepo02.dkfz.de/record/300360},
}