{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Nierenberg JL"],"funding":["U.S. Department of Health & Human Services | NIH | National Cancer Institute (NCI)"],"pagination":["7816"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC12370925"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["16(1)"],"pubmed_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 "],"journal":["Nature communications"],"pubmed_title":["Whole exome sequencing identifies FANCM as a susceptibility gene for estrogen-receptor-negative breast cancer in Hispanic/Latina women."],"pmcid":["PMC12370925"],"funding_grant_id":["K24CA169004","R01CA184585","R01CA120120"],"pubmed_authors":["Huntsman S","Patrick C","Shieh Y","Steele L","Ziv E","Kushi LH","Li M","Weitzel JN","Tong B","Fejerman L","Gruber SB","Nierenberg JL","Hu D","Adamson AW","Tao S","Torres-Mejia G","Neuhausen SL","Haiman CA","Ding YC","John EM","Ricker C"],"additional_accession":[]},"is_claimable":false,"name":"Whole exome sequencing identifies FANCM as a susceptibility gene for estrogen-receptor-negative breast cancer in Hispanic/Latina women.","description":"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 ","dates":{"release":"2025-01-01T00:00:00Z","publication":"2025 Aug","modification":"2026-05-08T10:41:52.543Z","creation":"2026-04-07T23:46:37.766Z"},"accession":"S-EPMC12370925","cross_references":{"pubmed":["40841357"],"doi":["10.1038/s41467-025-60564-0"]}}