# The prevalence of BRCA1 and BRCA2 mutations among young Mexican women with triple-negative breast cancer

Source: https://onco.cc/key-papers/paper-villarreal-garza-mexican-tnbc-brca-bcrt-2015/  
OnCo record `paper-villarreal-garza-mexican-tnbc-brca-bcrt-2015` (Key paper). Data CC BY-NC 4.0, attribute "Data from OnCo (onco.cc)"; commercial use needs a licence.

## TL;DR

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).

## Fields

- Kind: Key paper
- Last checked: 2026-09-24
- Journal: Breast Cancer Research and Treatment
- Year: 2015
- DOI: 10.1007/s10549-015-3312-8
- Authors: Villarreal-Garza C, Weitzel JN, Llacuachaqui M, et al.
- 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%.
- What it means: 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.

## Sources

- Villarreal-Garza et al., Breast Cancer Res Treat 2015: BRCA mutations in 190 young Mexican TNBC patients: https://doi.org/10.1007/s10549-015-3312-8
- PubMed: https://pubmed.ncbi.nlm.nih.gov/25716084/

## Connected records

- cancers: [Triple-negative breast cancer (TNBC)](https://onco.cc/cancers/tnbc/)
- targets: [BRCA1 / BRCA2 (HRD)](https://onco.cc/targets/brca/)
- terms: [Germline BRCA mutation (gBRCA)](https://onco.cc/terms/gbrca-mutation/)
- journals: [Breast cancer research and treatment](https://onco.cc/journals/breast-cancer-research-and-treatment/)

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