Celik Demirbas Betul, Kilic Erciyas Seda, Sukruoglu Erdogan Ozge, Pasin Ozge, Yalniz Kayim Zubeyde, Özgel Merve Çiğdem, Tuncer Seref Bugra
Department of Cancer Genetics, Oncology Institute, Istanbul University, Istanbul, Türkiye.
Department of Biostatistics and Medical Informatics, Hamidiye Medical Faculty, University of Health Sciences, Istanbul, Türkiye.
Discov Oncol. 2025 May 13;16(1):746. doi: 10.1007/s12672-025-02192-0.
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.
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