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Whole exome sequencing identifies FANCM as a susceptibility gene for estrogen-receptor-negative breast cancer in Hispanic/Latina women

Author

Listed:
  • Jovia L. Nierenberg

    (San Francisco
    San Francisco)

  • Aaron W. Adamson

    (Beckman Research Institute of City of Hope)

  • Donglei Hu

    (San Francisco)

  • Scott Huntsman

    (San Francisco)

  • Carmina Patrick

    (Beckman Research Institute of City of Hope)

  • Min Li

    (San Francisco)

  • Linda Steele

    (Beckman Research Institute of City of Hope)

  • Shu Tao

    (Beckman Research Institute of City of Hope)

  • Yuan Chun Ding

    (Beckman Research Institute of City of Hope)

  • Barry Tong

    (San Francisco)

  • Yiwey Shieh

    (Weill Cornell Medicine)

  • Laura Fejerman

    (Davis
    Davis)

  • Stephen B. Gruber

    (City of Hope National Medical Center)

  • Christopher A. Haiman

    (University of Southern California)

  • Esther M. John

    (Stanford University School of Medicine
    Stanford University School of Medicine
    Stanford University School of Medicine)

  • Lawrence H. Kushi

    (Kaiser Permanente Northern California)

  • Gabriela Torres-Mejía

    (Instituto Nacional de Salud Pública)

  • Charité Ricker

    (University of Southern California)

  • Jeffrey N. Weitzel

    (The University of Kansas Comprehensive Cancer Center)

  • Elad Ziv

    (San Francisco)

  • Susan L. Neuhausen

    (Beckman Research Institute of City of Hope)

Abstract

Breast cancer (BC) is one of the most common cancers globally. Genetic testing facilitates screening and informs targeted risk-reduction and treatments. However, genes included in testing panels are from European-ancestry studies. We conducted a pooled case-control analysis in self-identified Hispanic/Latina women (4178 cases and 4344 controls), using whole exome sequencing and a targeted panel. We tested the association of loss of function (LoF) variants with overall, estrogen receptor (ER)-positive, and ER-negative BC risk. Using logistic regression, we found a strong association of LoF variants in FANCM with ER-negative BC (p = 4.1 × 10−7), odds ratio [confidence interval]: 6.7 [2.9–15.6]). Among known susceptibility genes, BRCA1, BRCA2, and PALB2 strongly associated with BC. FANCM was previously proposed as a possible susceptibility gene for ER-negative BC, but is not routinely tested clinically. Our results demonstrate that FANCM should be added to BC gene panels.

Suggested Citation

  • Jovia L. Nierenberg & Aaron W. Adamson & Donglei Hu & Scott Huntsman & Carmina Patrick & Min Li & Linda Steele & Shu Tao & Yuan Chun Ding & Barry Tong & Yiwey Shieh & Laura Fejerman & Stephen B. Grube, 2025. "Whole exome sequencing identifies FANCM as a susceptibility gene for estrogen-receptor-negative breast cancer in Hispanic/Latina women," Nature Communications, Nature, vol. 16(1), pages 1-9, December.
    • Handle: RePEc:nat:natcom:v:16:y:2025:i:1:d:10.1038_s41467-025-60564-0
    DOI: 10.1038/s41467-025-60564-0
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