Identification and Computational Analysis of BRCA1 Variants in Mexican Women from Jalisco, Mexico - Article

Sep 22, 2026

Breast and ovarian cancer are among the most common neoplasms in women, and germline BRCA1 variants substantially increase risk. In a screening-enriched cohort of 228 Mexican patients with breast and/or ovarian cancer from Jalisco, BRCA1 variants were detected in 14.0%, with carrier proportions of 16.2% in ovarian and 13.6% in breast cancer. Variant functional effects were predicted using Ensembl VEP, SIFT, PolyPhen-2, REVEL, CADD, and AlphaMissense, and splicing consequences were assessed with SpliceAI. Results included fourteen-point variants and four large rearrangements, mainly truncating loss-of-function. Computational evidence supported existing classifications and enabled complementary reannotation of specific variants.

LanguageEnglish

CategoryResearch & Report

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Pages16

Reading Time40 min

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Article Identification and Computational Analysis of BRCA1 Variants in Mexican Women from Jalisco, Mexico, with Breast and Ovarian Cancer Martha Patricia Gallegos-Arreola 1,†, Asbiel Felipe Garibaldi-Ríos 1,2,†, Ingrid Patricia Dávalos-Rodríguez 1, María Teresa Magaña-Torres 1, Luis E. Figuera 1,2, Guillermo Moisés Zúñiga-González 3, Belinda Claudia Gómez-Meda 4, Blanca Miriam Torres-Mendoza 5,6, Raquel Villegas-Pacheco 7, René Gómez-Cerda 7, Julio César Cárdenas-Valdez 7, Sergio Osvaldo Meza-Chavolla 8, Mónica Alejandra Rosales-Reynoso 3, Wenceslao Guillermo Ángeles-Bueno 7, María José Gómez-Villegas 3, Daniela del Rocío Panduro Espinoza 7 and José Elías García-Ortiz 1, * Academic Editor: Antoni Torres Received: 1 July 2026 Revised: 29 July 2026 Accepted: 30 July 2026 Published: 1 August 2026 Copyright: © 2026 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license. 1 División de Genética, Centro de Investigación Biomédica de Occidente (CIBO), Centro Médico Nacional de Occidente (CMNO), Instituto Mexicano del Seguro Social (IMSS), Guadalajara 44340, Jalisco, Mexico; [marthapatriciagallegos08@gmail.com](marthapatriciagallegos08@gmail.com) (M.P.G.-A.); [garibaldi4757@alumnos.udg.mx](garibaldi4757@alumnos.udg.mx) (A.F.G.-R.); [luisfiguera@yahoo.com](luisfiguera@yahoo.com) (L.E.F.) 2 Doctorado en Genética Humana, Centro Universitario de Ciencias de la Salud (CUCS), Universidad de Guadalajara (UdeG), Guadalajara 44340, Jalisco, Mexico 3 División de Medicina Molecular, Centro de Investigación Biomédica de Occidente (CIBO), Centro Médico Nacional de Occidente (CMNO), Instituto Mexicano del Seguro Social (IMSS), Guadalajara 44340, Jalisco, Mexico 4 Instituto de Genética Humana “Dr. Enrique Corona Rivera”, Departamento de Biología Molecular y Genómica, Centro Universitario de Ciencias de la Salud (CUCS), Universidad de Guadalajara (UdeG), Guadalajara 44340, Jalisco, Mexico 5 Laboratorio de Inmunodeficiencias Humanas y Retrovirus, División de Neurociencias, Centro de Investigación Biomédica de Occidente (CIBO), Centro Médico Nacional de Occidente (CMNO), Instituto Mexicano del Seguro Social (IMSS), Guadalajara 44340, Jalisco, Mexico 6 Departamento de Disciplinas Filosófico Metodológicas, Centro Universitario de Ciencias de la Salud (CUCS), Universidad de Guadalajara (UdeG), Guadalajara 44340, Jalisco, Mexico 7 Unidad Médica de Alta Especialidad, Hospital de Gineco-Obstetricia, Centro Médico Nacional de Occidente (CMNO), Instituto Mexicano del Seguro Social (IMSS), Guadalajara 44340, Jalisco, Mexico 8 Unidad de Detección y Diagnóstico Clínica de Mama, Instituto Mexicano del Seguro Social (IMSS), Guadalajara 44340, Jalisco, Mexico * [Correspondence: jose.garciaor@imss.gob.mx](Correspondence: jose.garciaor@imss.gob.mx)[ ](Correspondence: jose.garciaor@imss.gob.mx)† These authors contributed equally to this work. Abstract Background. Breast and ovarian cancer are among the most common neoplasms in women, and germline variants in the BRCA1 gene markedly increase the risk of developing them. Despite existing studies, the frequency and spectrum of BRCA1 variants in women from Jalisco, Mexico, remain underexplored. Objective. To identify and characterize BRCA1 variants in a cohort of Mexican women with breast and ovarian cancer, and to assess their functional and splicing consequences through computational analysis. Methodology. Genomic DNA from 228 women with breast and/or ovarian cancer, selected by clinical criteria suggestive of hereditary cancer, was analyzed by next-generation sequencing. The functional impact of point variants was predicted with Ensembl VEP, SIFT, PolyPhen- 2, REVEL, CADD, and AlphaMissense, and their effect on splicing was evaluated with SpliceAI, using the MANE Select canonical transcript (NM_ 007294.4) . Results. BRCA1 variants were identified in 14

FAQs

What is the objective of the BRCA1 study in women from Jalisco, Mexico?

The study aims to identify and characterize BRCA1 variants in a cohort of Mexican women with breast and ovarian cancer and to assess functional and splicing consequences using computational analysis.

How were BRCA1 variants detected and analyzed in this cohort?

Genomic DNA from 228 women was analyzed by next-generation sequencing. Point-variant functional impact was predicted using tools including Ensembl VEP, SIFT, PolyPhen-2, REVEL, CADD, and AlphaMissense, while splicing effects were evaluated with SpliceAI.

What were the main findings about BRCA1 variant types and a recurrent variant?

BRCA1 variants were found in 14.0% of the screening-enriched cohort, with a predominance of truncating loss-of-function alterations. Fourteen-point variants and four large rearrangements were detected, and the recurrent missense variant c.5123C>A (p.Ala1708Glu) was present in 28.1% of carriers.

Sep 22, 2026

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