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Aim <p>The prevalence of <i>BRCA1/2</i> pathogenic variants among Turkish breast cancer&#xa0;(BC) patients is not well-characterized. We specifically examine the age at onset and cancer sub-types concerning <i>BRCA1/2</i> mutation status, focusing on patients with no family history of breast or ovarian cancer.</p> Methods <p>Peripheral blood samples were collected from 3184 BC patients applied to the Istanbul University Oncology Institute. Genetic testing for <i>BRCA1/2</i> mutations was conducted using the Illumina MiSeq® platform, with variant classification performed according to ACMG criteria.</p> Results <p>Among the 3184 patients, 2764 (86.8%) were <i>BRCA1/2</i>-, while 247 (7.8%) were <i>BRCA1</i> + and 173 (5.4%) were <i>BRCA2</i> + . The mean age at BC onset was significantly lower in <i>BRCA1</i> + (39.73&#xa0;years) and <i>BRCA2</i> + (41.07&#xa0;years) patients compared to <i>BRCA1/2</i>- patients (43.17&#xa0;years, p &lt; 0.001). Among patients with no family history, HER2 positive cases had a significantly higher mean age at onset than Triple-Negative Breast Cancer(TNBC) cases (41.78&#xa0;years vs. 40.44&#xa0;years, p = 0.017).</p> Conclusions <p>This study highlights the strong association between <i>BRCA1/2</i> + mutations and earlier BC onset, particularly in patients with no family history of breast or ovarian cancer in Türkiye.</p>

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Genetic insights into BRCA1/2 associated breast cancer in Türkiye: focus on early-onset and aggressive subtypes

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年5月13日

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  • Betul Celik Demirbas,
  • Seda Kilic Erciyas,
  • Ozge Sukruoglu Erdogan,
  • Ozge Pasin,
  • Zubeyde Yalniz Kayim,
  • Merve Çiğdem Özgel,
  • Seref Bugra Tuncer

摘要

Aim

The prevalence of BRCA1/2 pathogenic variants among Turkish breast cancer (BC) patients is not well-characterized. We specifically examine the age at onset and cancer sub-types concerning BRCA1/2 mutation status, focusing on patients with no family history of breast or ovarian cancer.

Methods

Peripheral blood samples were collected from 3184 BC patients applied to the Istanbul University Oncology Institute. Genetic testing for BRCA1/2 mutations was conducted using the Illumina MiSeq® platform, with variant classification performed according to ACMG criteria.

Results

Among the 3184 patients, 2764 (86.8%) were BRCA1/2-, while 247 (7.8%) were BRCA1 + and 173 (5.4%) were BRCA2 + . The mean age at BC onset was significantly lower in BRCA1 + (39.73 years) and BRCA2 + (41.07 years) patients compared to BRCA1/2- patients (43.17 years, p < 0.001). Among patients with no family history, HER2 positive cases had a significantly higher mean age at onset than Triple-Negative Breast Cancer(TNBC) cases (41.78 years vs. 40.44 years, p = 0.017).

Conclusions

This study highlights the strong association between BRCA1/2 + mutations and earlier BC onset, particularly in patients with no family history of breast or ovarian cancer in Türkiye.