Articles Tập 67 Số CĐ13-HNKH Bệnh viện 19-8 09/09/2026

IDENTIFY BRCA1/BRCA2 GENE MUTATIONS ASSOCIATED WITH BREAST CANCER IN INDIVIDUALS AT NGHE AN ONCOLOGY HOSPITAL

Vu Dinh Giap1,2, Cao Ba Loi3,4, Duong Dinh Chinh3,4, Doan Thi Hong Nhat5
1 Nghe An Oncology Hospital
2 Bệnh viện Ung Bướu Nghệ An
3 National Institute of Malariology
4 Viện Sốt rét - Ký sinh trùng - Côn trùng
5 Vinh Medical University
DOI: 10.52163/yhc.v67iCD13.6508
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Keywords
Breast cancer, BRCA1, BRCA2, next-generation sequencing, high-risk patients.
Abstract

Objective: To identify BRCA1 and BRCA2 gene mutations and analyze their associated factors among high-risk breast cancer patients at Nghe An Oncology Hospital.

Methods: An analytical cross-sectional study was conducted on 103 high-risk breast cancer patients. Study period: from January 2024 to December 2025. Laboratory technique: Peripheral blood samples were utilized, and next-generation sequencing (NGS) was applied to investigate the BRCA1/2 genes. Data analysis: Variants were classified according to their clinical significance; the associations between mutation status and disease stage, as well as receptor expression (ER, PR, HER2), were analyzed using odds ratios (OR), 95% confidence intervals (95% CI), and p-values.

Results: Among high-risk breast cancer patients evaluated at Nghe An Oncology Hospital, the detection rate of likely pathogenic (LP) BRCA1/2 variants was 9.7%. The identified variants were mainly nonsense and frameshift variants, all predicted to result in truncated proteins. The most frequent variant was BRCA2:c.6490C>T(p.Gln2164Ter), detected in 4 of 10 patients carrying LP variants. Most variants had previously been reported in ClinVar; notably, BRCA1:c.872_873del (p.Leu291Serfs*3) had not been documented in this database at the time of analysis. Patients carrying LP BRCA1/2 variants were more likely to have HER2-negative and triple-negative breast cancer phenotypes than non-carriers, with odds ratios of 4.86 and 5.47, respectively; the corresponding p-values were 0.048 and 0.015.

Conclusions: In this cohort of high-risk breast cancer patients, the prevalence of LP BRCA1/2 variants was 9.7%, with truncating variants predominating. BRCA2 c.6490C>T (p.Gln2164Ter) was the most frequent variant, while BRCA1 c.872_873del (p.Leu291Serfs*3) had not been reported in ClinVar at the time of analysis. LP BRCA1/2 variant carriers were more likely to present with HER2-negative and triple-negative phenotypes.

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