Genetic insights into BRCA1/2 associated breast cancer in Türkiye: focus on early-onset and aggressive subtypes
Abstract 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. M...
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| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Springer
2025-05-01
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| Series: | Discover Oncology |
| Subjects: | |
| Online Access: | https://doi.org/10.1007/s12672-025-02192-0 |
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| Summary: | Abstract 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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| ISSN: | 2730-6011 |