Survival Outcomes in Patients with Early and Locally Advanced BRCA1‑Associated Breast Cancer in the Sverdlovsk Region, Russia

Introduction . Breast cancer (BC) remains the leading cause of cancer morbidity among women. Hereditary forms exhibit distinct clinical behaviour and require personalized management. Despite extensive international research, the prognostic significance of BRCA-associated BC remains debated, and Russian data are scarce. The purpose of study is to analyze overall survival (OS) and progression-free survival (PFS) in patients with BRCA-associated BC in the Sverdlovsk region, and to assess these outcomes by molecular subtype. Materials and methods . This retrospective cohort study included 117 patients with stage I–III BC who underwent genetic testing by polymerase chain reaction with subsequent next-generation sequencing verification between 2018 and 2021. Group 1 comprised 53 patients with BRCA1 mutations; group 2 comprised 64 patients without BRCA1/2 mutations. Groups were matched for clinical stage and molecular subtype. Survival was estimated by Kaplan–Meier analysis with log-rank testing; independent prognostic factors were assessed using Cox proportional hazards models. Results . Five-year OS was 86.8 % in group 1 versus 76.6 % in group 2; seven-year OS was 75.5 % versus 75.0 %. Five-year PFS was 77.0 % versus 65.4 %; seven-year PFS was 74.5 % versus 65.4 %. Differences were not statistically significant. Stage-specific analysis revealed no significant differences. In multivariate Cox analysis, BRCA1 mutation status was not a significant predictor of progression or death. Triple-negative subtype, stage III, and disease progression were significant predictors of death. Conclusion . BRCA1 mutations do not worsen prognosis in BC and may be associated with more favourable survival. These findings underscore the importance of molecular genetic testing and may inform personalized treatment.

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Publication Details

Journal
Ural Medical Journal
Published
2026-11-02
DOI
https://doi.org/10.52420/umj.25.5.70.
Primary Topic
BRCA gene mutations in cancer
Type
article
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article

Survival Outcomes in Patients with Early and Locally Advanced BRCA1‑Associated Breast Cancer in the Sverdlovsk Region, Russia

Anastasia Popova, Цаур Григорий Анатольевич, Yulia D. Tretyakova, Маргарита Ивановна Магдалянова et al.
Ural Medical Journal
BRCA gene mutations in cancer
article

Survival Outcomes in Patients with Early and Locally Advanced BRCA1‑Associated Breast Cancer in the Sverdlovsk Region, Russia

Anastasia Popova, Цаур Григорий Анатольевич, Yulia D. Tretyakova, Маргарита Ивановна Магдалянова, Александр Владимирович Дорофеев, R. А. Aristov, O. E. Knysh
article en

Abstract

Introduction . Breast cancer (BC) remains the leading cause of cancer morbidity among women. Hereditary forms exhibit distinct clinical behaviour and require personalized management. Despite extensive international research, the prognostic significance of BRCA-associated BC remains debated, and Russian data are scarce. The purpose of study is to analyze overall survival (OS) and progression-free survival (PFS) in patients with BRCA-associated BC in the Sverdlovsk region, and to assess these outcomes by molecular subtype. Materials and methods . This retrospective cohort study included 117 patients with stage I–III BC who underwent genetic testing by polymerase chain reaction with subsequent next-generation sequencing verification between 2018 and 2021. Group 1 comprised 53 patients with BRCA1 mutations; group 2 comprised 64 patients without BRCA1/2 mutations. Groups were matched for clinical stage and molecular subtype. Survival was estimated by Kaplan–Meier analysis with log-rank testing; independent prognostic factors were assessed using Cox proportional hazards models. Results . Five-year OS was 86.8 % in group 1 versus 76.6 % in group 2; seven-year OS was 75.5 % versus 75.0 %. Five-year PFS was 77.0 % versus 65.4 %; seven-year PFS was 74.5 % versus 65.4 %. Differences were not statistically significant. Stage-specific analysis revealed no significant differences. In multivariate Cox analysis, BRCA1 mutation status was not a significant predictor of progression or death. Triple-negative subtype, stage III, and disease progression were significant predictors of death. Conclusion . BRCA1 mutations do not worsen prognosis in BC and may be associated with more favourable survival. These findings underscore the importance of molecular genetic testing and may inform personalized treatment.

Ural Medical JournalVol. 25(5)
Ural State Medical University (RU)
Openalex Percentile: Top 17%
BRCA gene mutations in cancer
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