{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"submitter":["Nierenberg JL"],"funding":["NCATS NIH HHS","NCI NIH HHS"],"pubmed_abstract":["<h4>Introduction</h4>Breast cancer (BC) is one of the most common cancers globally. Genetic testing can facilitate screening and risk-reducing recommendations, and inform use of targeted treatments. However, genes included in testing panels are from studies of European-ancestry participants. We sequenced Hispanic/Latina (H/L) women to identify BC susceptibility genes.<h4>Methods</h4>We conducted a pooled BC case-control analysis in H/L women from the San Francisco Bay area, Los Angeles County, and Mexico (4,178 cases and 4,344 controls). Whole exome sequencing was conducted on 1,043 cases and 1,188 controls and a targeted 857-gene panel on the remaining samples. Using ancestry-adjusted SKAT-O analyses, we tested the association of loss of function (LoF) variants with overall, estrogen rece"],"journal":["medRxiv : the preprint server for health sciences"],"pagination":["2023.01.25.23284924"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC9901069"],"repository":["biostudies-literature"],"pubmed_title":["Whole exome sequencing and replication for breast cancer among Hispanic/Latino women identifies <i>FANCM</i> as a susceptibility gene for estrogen-receptor-negative breast cancer."],"pmcid":["PMC9901069"],"funding_grant_id":["U01 CA164973","R01 CA184585","R01 CA105274","T32 CA112355","P30 CA033572","KL2 TR001870","R01 CA063464","R01 CA054281","RC4 CA153828","K24 CA169004","R01 CA063446","R01 CA120120","UM1 CA164920","U01 CA063464","R01 CA204797","K08 CA237829","R01 CA077398"],"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","Torres-Mejia G","Neuhausen SL","Haiman CA","John EM","Ricker C"],"additional_accession":[]},"is_claimable":false,"name":"Whole exome sequencing and replication for breast cancer among Hispanic/Latino women identifies <i>FANCM</i> as a susceptibility gene for estrogen-receptor-negative breast cancer.","description":"<h4>Introduction</h4>Breast cancer (BC) is one of the most common cancers globally. Genetic testing can facilitate screening and risk-reducing recommendations, and inform use of targeted treatments. However, genes included in testing panels are from studies of European-ancestry participants. We sequenced Hispanic/Latina (H/L) women to identify BC susceptibility genes.<h4>Methods</h4>We conducted a pooled BC case-control analysis in H/L women from the San Francisco Bay area, Los Angeles County, and Mexico (4,178 cases and 4,344 controls). Whole exome sequencing was conducted on 1,043 cases and 1,188 controls and a targeted 857-gene panel on the remaining samples. Using ancestry-adjusted SKAT-O analyses, we tested the association of loss of function (LoF) variants with overall, estrogen rece","dates":{"release":"2023-01-01T00:00:00Z","publication":"2023 Jan","modification":"2026-04-07T21:03:36.693Z","creation":"2025-04-19T02:46:09.334Z"},"accession":"S-EPMC9901069","cross_references":{"pubmed":["36747679"],"doi":["10.1101/2023.01.25.23284924"]}}