Molecular characteristics and prognostic insights into BRCA-associated breast cancer in Kazakhstan

Samigatova A. Altaeva N. Suleimenov Y. Sibiryakov P. Zhabagin K. Zhakypbekkyzy Z. Seksenbayev B. Yoshihiro N. Tsigengagel O.
December 2026 Nature Research

Scientific Reports
2026 #16 Issue 1

Breast cancer remains the leading cause of cancer morbidity and mortality among women worldwide. Approximately 5–10% of cases involve pathogenic BRCA1/2 variants, typically associated with early-onset, aggressive disease. This study aimed to determine the frequency and spectrum of BRCA1/2 mutations among Kazakhstani breast cancer patients and to analyze their associations with clinicopathological features and survival outcomes. A total of 186 patients aged 21–90 years were examined between December 2023 and June 2024 using next-generation sequencing and retrospective chart review. The median age was 44 years for BRCA1, 48 for BRCA2, and 51 for BRCA-negative patients. Advanced disease (stages III-IV) was more common among mutation carriers (p < 0.001). Pathogenic BRCA1 and BRCA2 variants were found in 22% and 9% of cases, respectively; BRCA1 tumors were predominantly triple-negative (88%), whereas BRCA2 tumors were mainly hormone receptor–positive (65%). Both subtypes were largely poorly differentiated (61% and 53%, respectively). The median progression-free survival was 34, 12, and 8 months for BRCA-negative, BRCA1-, and BRCA2-positive groups, respectively (p = 0.001). To our knowledge, this is the first comprehensive analysis of BRCA1/2 mutation profiles among Kazakhstani women, highlighting distinct genotype-phenotype correlations and supporting the need for personalized therapeutic strategies in this population.

BRCA1/BRCA2 mutations , Breast cancer , Clinical outcomes , Kazakhstani population , Molecular profiling

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Astana Medical University, QazGene LLP, Beibitshilik Street 49/A, Astana, 010000, Kazakhstan
Department of Medical Genetics and Molecular Biology, Astana Medical University, Astana, Kazakhstan
CDL OLYMP- LLP, QazGene LLP, Astana, Kazakhstan
GeneNote LLP, Almaty, Kazakhstan
Medical Center Hospital of The President’s Affairs Administration of The Republic of Kazakhstan, Astana, Kazakhstan
Astana Medical University, Astana, Kazakhstan
Hiroshima International University, Kurose gakuendai, Higashi hiroshima, Hiroshima, Japan
Department of Epidemiology and Biostatistics, Astana Medical University, Astana, Kazakhstan

Astana Medical University
Department of Medical Genetics and Molecular Biology
CDL OLYMP- LLP
GeneNote LLP
Medical Center Hospital of The President’s Affairs Administration of The Republic of Kazakhstan
Astana Medical University
Hiroshima International University
Department of Epidemiology and Biostatistics

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