{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,3]],"date-time":"2026-08-03T22:45:24Z","timestamp":1785797124081,"version":"3.56.0"},"reference-count":43,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2014,9,18]],"date-time":"2014-09-18T00:00:00Z","timestamp":1410998400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000054","name":"National Cancer Institute","doi-asserted-by":"publisher","award":["RC4CA153828"],"award-info":[{"award-number":["RC4CA153828"]}],"id":[{"id":"10.13039\/100000054","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cancer"],"published-print":{"date-parts":[[2015,2]]},"abstract":"<jats:sec><jats:title>BACKGROUND<\/jats:title><jats:p>Frequent recurrent mutations in the breast and ovarian cancer susceptibility (<jats:italic>BRCA<\/jats:italic>) genes <jats:italic>BRCA1<\/jats:italic> and <jats:italic>BRCA2<\/jats:italic> among Hispanics, including a large rearrangement Mexican founder mutation (<jats:italic>BRCA1<\/jats:italic> exon 9\u201012 deletion [ex9\u201012del]), suggest that an ancestry\u2010informed <jats:italic>BRCA<\/jats:italic>\u2010testing strategy could reduce disparities and promote cancer prevention by enabling economic screening for hereditary breast and ovarian cancer in Mexico.<\/jats:p><\/jats:sec><jats:sec><jats:title>METHODS<\/jats:title><jats:p>In a multistage approach, 188 patients with cancer who were unselected for family cancer history (92 with ovarian cancer and 96 with breast cancer) were screened for <jats:italic>BRCA<\/jats:italic> mutations using a Hispanic mutation panel (HISPANEL) of 115 recurrent mutations in a multiplex assay (114 were screened on a mass spectroscopy platform, and a polymerase chain reaction assay was used to screen for the <jats:italic>BRCA1<\/jats:italic> ex9\u201012del mutation). This was followed by sequencing of all <jats:italic>BRCA<\/jats:italic> exons and adjacent intronic regions and a <jats:italic>BRCA1<\/jats:italic> multiplex ligation\u2010dependent probe amplification assay (MLPA) for HISPANEL\u2010negative patients. <jats:italic>BRCA<\/jats:italic> mutation prevalence was calculated and correlated with histology and tumor receptor status, and HISPANEL sensitivity was estimated.<\/jats:p><\/jats:sec><jats:sec><jats:title>RESULTS<\/jats:title><jats:p><jats:italic>BRCA<\/jats:italic> mutations were detected in 26 of 92 patients (28%) with ovarian cancer, in 14 of 96 patients (15%) with breast cancer overall, and in 9 of 33 patients (27%) who had tumors that were negative for estrogen receptor, progesterone receptor, and human epithelial growth factor 2 (triple\u2010negative breast cancer). Most patients with breast cancer were diagnosed with locally advanced disease. The Mexican founder mutation (<jats:italic>BRCA1<\/jats:italic> ex9\u201012del) accounted for 35% of <jats:italic>BRCA<\/jats:italic>\u2010associated ovarian cancers and 29% of <jats:italic>BRCA<\/jats:italic>\u2010associated breast cancers. At 2% of the sequencing and MLPA cost, HISPANEL detected 68% of all <jats:italic>BRCA<\/jats:italic> mutations.<\/jats:p><\/jats:sec><jats:sec><jats:title>CONCLUSIONS<\/jats:title><jats:p>In this study, a remarkably high prevalence of <jats:italic>BRCA<\/jats:italic> mutations was observed among patients with ovarian cancer and breast cancer who were not selected for family history, and the <jats:italic>BRCA1<\/jats:italic> ex9\u201012del mutation explained 33% of the total. The remarkable frequency of <jats:italic>BRCA1<\/jats:italic> ex9\u201012del in Mexico City supports a nearby origin of this Mexican founder mutation and may constitute a regional public health problem. The HISPANEL mutation panel presents a translational opportunity for cost\u2010effective genetic testing to enable breast and ovarian cancer prevention. <jats:bold><jats:italic>Cancer<\/jats:italic> 2015;121:372\u2013378.<\/jats:bold> \u00a9 <jats:italic>2014 American Cancer Society<\/jats:italic>.<\/jats:p><\/jats:sec>","DOI":"10.1002\/cncr.29058","type":"journal-article","created":{"date-parts":[[2014,9,18]],"date-time":"2014-09-18T11:23:36Z","timestamp":1411039416000},"page":"372-378","source":"Crossref","is-referenced-by-count":83,"title":["Significant clinical impact of recurrent <i>BRCA1<\/i> and <i>BRCA2<\/i> mutations in Mexico"],"prefix":"10.1002","volume":"121","author":[{"given":"Cynthia","family":"Villarreal\u2010Garza","sequence":"first","affiliation":[{"name":"Unit of Biomedical Cancer Research National Cancer Institute\u2010Institute for Biomedical Research, National Autonomous University of Mexico Mexico Federal District Mexico"},{"name":"Technological Breast Cancer Center of Monterrey Monterrey Nuevo Leon Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rosa Mar\u00eda","family":"Alvarez\u2010G\u00f3mez","sequence":"additional","affiliation":[{"name":"Basic Research Branch, National Cancer Institute Mexico Federal District Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carlos","family":"P\u00e9rez\u2010Plasencia","sequence":"additional","affiliation":[{"name":"Oncogenomics Laboratory National Cancer Institute Mexico Federal District Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luis A.","family":"Herrera","sequence":"additional","affiliation":[{"name":"Unit of Biomedical Cancer Research National Cancer Institute\u2010Institute for Biomedical Research, National Autonomous University of Mexico Mexico Federal District Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Josef","family":"Herzog","sequence":"additional","affiliation":[{"name":"Division of Clinical Cancer Genetics City of Hope Duarte California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Danielle","family":"Castillo","sequence":"additional","affiliation":[{"name":"Division of Clinical Cancer Genetics City of Hope Duarte California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alejandro","family":"Mohar","sequence":"additional","affiliation":[{"name":"Unit of Biomedical Cancer Research National Cancer Institute\u2010Institute for Biomedical Research, National Autonomous University of Mexico Mexico Federal District Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Clementina","family":"Castro","sequence":"additional","affiliation":[{"name":"Unit of Biomedical Cancer Research National Cancer Institute\u2010Institute for Biomedical Research, National Autonomous University of Mexico Mexico Federal District Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lenny N.","family":"Gallardo","sequence":"additional","affiliation":[{"name":"Unit of Biomedical Cancer Research National Cancer Institute\u2010Institute for Biomedical Research, National Autonomous University of Mexico Mexico Federal District Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dolores","family":"Gallardo","sequence":"additional","affiliation":[{"name":"Department of Medical Oncology National Cancer Institute Mexico Federal District Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miguel","family":"Santib\u00e1\u00f1ez","sequence":"additional","affiliation":[{"name":"Unit of Biomedical Cancer Research National Cancer Institute\u2010Institute for Biomedical Research, National Autonomous University of Mexico Mexico Federal District Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kathleen R.","family":"Blazer","sequence":"additional","affiliation":[{"name":"Division of Clinical Cancer Genetics City of Hope Duarte California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeffrey N.","family":"Weitzel","sequence":"additional","affiliation":[{"name":"Division of Clinical Cancer Genetics City of Hope Duarte California"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2014,9,18]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1093\/jnci\/djj465"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.3322\/caac.20128"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1086\/301749"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1524-4741.2009.00811.x"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/cncr.25961"},{"key":"e_1_2_7_7_1","unstructured":"World Day Against Cancer (National Data). 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