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Genome-wide association study identifies common variants associated with breast cancer in South African Black women

Author

Listed:
  • Mahtaab Hayat

    (University of the Witwatersrand
    University of the Witwatersrand)

  • Wenlong C. Chen

    (University of the Witwatersrand
    National Health Laboratory Service
    University of the Witwatersrand)

  • Chantal Babb de Villiers

    (University of the Witwatersrand)

  • Sang Hyuck Lee

    (King’s College London
    South London and Maudsley NHS Foundation Trust)

  • Charles Curtis

    (King’s College London
    South London and Maudsley NHS Foundation Trust)

  • Rob Newton

    (MRC/UVRI and LSHTM Uganda Research Unit
    University of York)

  • Tim Waterboer

    (German Cancer Research Center (DKFZ))

  • Freddy Sitas

    (South African Medical Research Council
    UNSW International Centre for Future Health Systems
    University of New South Wales)

  • Debbie Bradshaw

    (South African Medical Research Council)

  • Mazvita Muchengeti

    (National Health Laboratory Service
    Stellenbosch University
    University of the Witwatersrand)

  • Elvira Singh

    (National Health Laboratory Service
    University of the Witwatersrand)

  • Cathryn M. Lewis

    (King’s College London
    King’s College London)

  • Michele Ramsay

    (University of the Witwatersrand)

  • Christopher G. Mathew

    (University of the Witwatersrand
    University of the Witwatersrand
    King’s College London)

  • Jean-Tristan Brandenburg

    (University of the Witwatersrand
    University of the Witwatersrand)

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.

Suggested Citation

  • Mahtaab Hayat & Wenlong C. Chen & Chantal Babb de Villiers & Sang Hyuck Lee & Charles Curtis & Rob Newton & Tim Waterboer & Freddy Sitas & Debbie Bradshaw & Mazvita Muchengeti & Elvira Singh & Cathryn, 2025. "Genome-wide association study identifies common variants associated with breast cancer in South African Black women," Nature Communications, Nature, vol. 16(1), pages 1-11, December.
    • Handle: RePEc:nat:natcom:v:16:y:2025:i:1:d:10.1038_s41467-025-58789-0
    DOI: 10.1038/s41467-025-58789-0
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