{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T14:17:12Z","timestamp":1791037032665,"version":"4.1.0"},"reference-count":51,"publisher":"American Society of Clinical Oncology (ASCO)","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JCO"],"published-print":{"date-parts":[[2013,1,10]]},"abstract":"<jats:sec><jats:title>Purpose<\/jats:title><jats:p>To determine the prevalence and type of BRCA1 and BRCA2 (BRCA) mutations among Hispanics in the Southwestern United States and their potential impact on genetic cancer risk assessment (GCRA).<\/jats:p><\/jats:sec><jats:sec><jats:title>Patients and Methods<\/jats:title><jats:p>Hispanics (n = 746) with a personal or family history of breast and\/or ovarian cancer were enrolled in an institutional review board\u2013approved registry and received GCRA and BRCA testing within a consortium of 14 clinics. Population-based Hispanic breast cancer cases (n = 492) enrolled in the Northern California Breast Cancer Family Registry, negative by sequencing for BRCA mutations, were analyzed for the presence of the BRCA1 ex9-12del large rearrangement.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Deleterious BRCA mutations were detected in 189 (25%) of 746 familial clinic patients (124 BRCA1, 65 BRCA2); 21 (11%) of 189 were large rearrangement mutations, of which 62% (13 of 21) were BRCA1 ex9-12del. Nine recurrent mutations accounted for 53% of the total. Among these, BRCA1 ex9-12del seems to be a Mexican founder mutation and represents 10% to 12% of all BRCA1 mutations in clinic- and population-based cohorts in the United States.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>BRCA mutations were prevalent in the largest study of Hispanic breast and\/or ovarian cancer families in the United States to date, and a significant proportion were large rearrangement mutations. The high frequency of large rearrangement mutations warrants screening in every case. We document the first Mexican founder mutation (BRCA1 ex9-12del), which, along with other recurrent mutations, suggests the potential for a cost-effective panel approach to ancestry-informed GCRA.<\/jats:p><\/jats:sec>","DOI":"10.1200\/jco.2011.41.0027","type":"journal-article","created":{"date-parts":[[2012,12,12]],"date-time":"2012-12-12T02:44:06Z","timestamp":1355280246000},"page":"210-216","source":"Crossref","is-referenced-by-count":134,"title":["Prevalence and Type of<i>BRCA<\/i>Mutations in Hispanics Undergoing Genetic Cancer Risk Assessment in the Southwestern United States: A Report From the Clinical Cancer Genetics Community Research Network"],"prefix":"10.1200","volume":"31","author":[{"given":"Jeffrey N.","family":"Weitzel","sequence":"first","affiliation":[{"name":"Jeffrey N. Weitzel, Jessica Clague, Arelis Martir-Negron, Raquel Ogaz, Josef Herzog, Sharon Sand, Danielle Port, Deborah I. Barragan, Susan L. Neuhausen, and Garrett P. Larson, City of Hope, Duarte; Charit\u00e9 Ricker, University of Southern California, Los Angeles; Cheryl Cina, St Joseph Hospital, Orange; Mary Beattie, University of California, San Francisco, San Francisco; Nancy Feldman, Olive View\u2013University of California, Los Angeles, Medical Center, Sylmar; Esther M. John, Cancer Prevention Institute of..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jessica","family":"Clague","sequence":"additional","affiliation":[{"name":"Jeffrey N. Weitzel, Jessica Clague, Arelis Martir-Negron, Raquel Ogaz, Josef Herzog, Sharon Sand, Danielle Port, Deborah I. Barragan, Susan L. Neuhausen, and Garrett P. Larson, City of Hope, Duarte; Charit\u00e9 Ricker, University of Southern California, Los Angeles; Cheryl Cina, St Joseph Hospital, Orange; Mary Beattie, University of California, San Francisco, San Francisco; Nancy Feldman, Olive View\u2013University of California, Los Angeles, Medical Center, Sylmar; Esther M. 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