{"entity":{"id":"paper-villarreal-garza-mexican-tnbc-brca-bcrt-2015","kind":"paper","name":"The prevalence of BRCA1 and BRCA2 mutations among young Mexican women with triple-negative breast cancer","aka":[],"tldr":"Among 190 Mexican women diagnosed with triple-negative breast cancer at 50 or under, 23% carried a BRCA mutation, nearly all in BRCA1, and a single large deletion founder mutation accounted for 41% of them.","summary":"190 women with TNBC diagnosed at age 50 or less at a single Mexico City hospital, unselected for family history, were screened for 115 recurrent BRCA mutations reported in Hispanic women including the Mexican founder large rearrangement BRCA1 ex9-12del. A mutation was detected in 44 (23%): 43 in BRCA1 and one in BRCA2. Seven mutations accounted for 39 patients (89%); the founder BRCA1 ex9-12del was found 18 times (41% of mutations).","asOf":"2026-09-24","links":[{"label":"Villarreal-Garza et al., Breast Cancer Res Treat 2015: BRCA mutations in 190 young Mexican TNBC patients","url":"https://doi.org/10.1007/s10549-015-3312-8"},{"label":"PubMed","url":"https://pubmed.ncbi.nlm.nih.gov/25716084/"}],"tags":[],"related":[],"cancers":["tnbc"],"sections":[],"technologies":[],"targets":["brca"],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":["gbrca-mutation"],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":["breast-cancer-research-and-treatment"],"dependsOn":[],"notes":[],"journal":"Breast Cancer Research and Treatment","year":2015,"doi":"10.1007/s10549-015-3312-8","pmid":"25716084","authors":"Villarreal-Garza C, Weitzel JN, Llacuachaqui M, et al.","paperType":"observational","findings":["BRCA mutation in 44 of 190 young Mexican TNBC patients, 23%; 43 in BRCA1.","BRCA1 ex9-12del accounted for 41% of mutations; seven recurrent mutations for 89%."],"whatItMeans":"A recurrent-mutation panel catches most carriers in Mexican TNBC at a fraction of the cost of full sequencing, and the large-rearrangement founder allele is missed by sequencing-only assays that do not test for deletions.","caveats":["Recurrent-mutation screening, so novel mutations were not sought.","Single hospital; patients aged 50 or under only."],"changedPractice":false,"participants":190},"route":"/key-papers/paper-villarreal-garza-mexican-tnbc-brca-bcrt-2015/","neighbours":{"cancer":[{"id":"tnbc","kind":"cancer","name":"Triple-negative breast cancer (TNBC)","route":"/cancers/tnbc/"}],"target":[{"id":"brca","kind":"target","name":"BRCA1 / BRCA2 (HRD)","route":"/targets/brca/"}],"term":[{"id":"gbrca-mutation","kind":"term","name":"Germline BRCA mutation (gBRCA)","route":"/terms/gbrca-mutation/"}],"journal":[{"id":"breast-cancer-research-and-treatment","kind":"journal","name":"Breast cancer research and treatment","route":"/journals/breast-cancer-research-and-treatment/"}]}}