biostudies-literatureUnknownNierenberg JLNCATS NIH HHSNCI NIH HHS<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 recemedRxiv : the preprint server for health sciences2023.01.25.23284924https://www.ebi.ac.uk/biostudies/studies/S-EPMC9901069biostudies-literatureWhole 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.PMC9901069U01 CA164973R01 CA184585R01 CA105274T32 CA112355P30 CA033572KL2 TR001870R01 CA063464R01 CA054281RC4 CA153828K24 CA169004R01 CA063446R01 CA120120UM1 CA164920U01 CA063464R01 CA204797K08 CA237829R01 CA077398Huntsman SPatrick CShieh YSteele LZiv EKushi LHLi MWeitzel JNTong BFejerman LGruber SBNierenberg JLHu DAdamson AWTorres-Mejia GNeuhausen SLHaiman CAJohn EMRicker CfalseWhole 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.<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 rece2023-01-01T00:00:00Z2023 Jan2026-04-07T21:03:36.693Z2025-04-19T02:46:09.334ZS-EPMC99010693674767910.1101/2023.01.25.23284924