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<p>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 <i>FANCM</i> with ER-negative BC (<i>p</i> = 4.1 × 10<sup>−</sup><sup>7</sup>), odds ratio [confidence interval]: 6.7 [2.9–15.6]). Among known susceptibility genes, <i>BRCA1</i>, <i>BRCA2</i>, and <i>PALB2</i> strongly associated with BC. <i>FANCM</i> was previously proposed as a possible susceptibility gene for ER-negative BC, but is not routinely tested clinically. Our results demonstrate that <i>FANCM</i> should be added to BC gene panels.</p>

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

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年8月21日

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  • 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. Gruber,
  • Christopher A. Haiman,
  • Esther M. John,
  • Lawrence H. Kushi,
  • Gabriela Torres-Mejía,
  • Charité Ricker,
  • Jeffrey N. Weitzel,
  • Elad Ziv,
  • Susan L. Neuhausen

摘要

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.