Nature communications · 2025
Whole exome sequencing identifies FANCM as a susceptibility gene for estrogen-receptor-negative breast cancer in Hispanic/Latina women.
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Nierenberg Jovia L, Adamson Aaron W, Hu Donglei, Huntsman Scott, Patrick Carmina, Li Min, Steele Linda, Tao Shu, Ding Yuan Chun, Tong Barry, Shieh Yiwey, Fejerman Laura, Gruber Stephen B, Haiman Christopher A, John Esther M, Kushi Lawrence H, Torres-Mejía Gabriela, Ricker Charité, Weitzel Jeffrey N, Ziv Elad, Neuhausen Susan L
Аннотация
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.