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<p>Breast cancer remains the leading cause of cancer morbidity and mortality among women worldwide. Approximately 5–10% of cases involve pathogenic <i>BRCA1/2</i> variants, typically associated with early-onset, aggressive disease. This study aimed to determine the frequency and spectrum of <i>BRCA1/2</i> 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 <i>BRCA1</i>, 48 for <i>BRCA2</i>, and 51 for <i>BRCA</i>-negative patients. Advanced disease (stages III-IV) was more common among mutation carriers (<i>p</i> &lt; 0.001). Pathogenic <i>BRCA1</i> and <i>BRCA2</i> variants were found in 22% and 9% of cases, respectively; <i>BRCA1</i> tumors were predominantly triple-negative (88%), whereas <i>BRCA2</i> 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 <i>BRCA</i>-negative, <i>BRCA1</i>-, and <i>BRCA2</i>-positive groups, respectively (<i>p</i> = 0.001). To our knowledge, this is the first comprehensive analysis of <i>BRCA1/2</i> mutation profiles among Kazakhstani women, highlighting distinct genotype-phenotype correlations and supporting the need for personalized therapeutic strategies in this population.</p>

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

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2026年1月17日

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  • Ainur Samigatova,
  • Nursulu Altaeva,
  • Yerlan Suleimenov,
  • Petr Sibiryakov,
  • Kuantkan Zhabagin,
  • Zhanar Zhakypbekkyzy,
  • Bakhytzhan Seksenbayev,
  • Noso Yoshihiro,
  • Oxana Tsigengagel

摘要

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.