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. 2025 May 13;16(1):746.
doi: 10.1007/s12672-025-02192-0.

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

Betul Celik Demirbas  1 , Seda Kilic Erciyas  1 , Ozge Sukruoglu Erdogan  1 , Ozge Pasin  2 , Zubeyde Yalniz Kayim  1 , Merve Çiğdem Özgel  1 , Seref Bugra Tuncer  3
Affiliations

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

Betul Celik Demirbas et al. Discov Oncol. .

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.

Keywords: BRCA1/2 mutations; Breast cancer; HER2 positive; Triple-negative breast cancer (TNBC); Turkish population.

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Conflict of interest statement

Declarations. Competing interests: The authors declare no competing interests.

Figures

Fig. 1
Fig. 1
Prevalence of BRCA1 and BRCA2 Mutations Among Patients Included in the Study
Fig. 2
Fig. 2
Age at onset distribution in BRCA1 + , BRCA2 + , and, BRCA1/2- patients. The dataset was divided into four equal parts, and age was categorized based on the resulting quartile data
Fig. 3
Fig. 3
Age Distribution in BRCA1/2 ± groups: Box Plot Analysis. The median age in the BRCA mutation-positive and negative groups was 38 (33–46) and 40 (35–45) years, respectively
Fig. 4
Fig. 4
The Prevalence of Age at Onset Among BRCA1 + And BRCA2 + Patients in HER2-Positive and Triple-Negative Breast Cancer(TNBC) Sub-Types in Patients with No Family History of Breast or Ovarian Cancer. Blue Bars indicate BRCA1 + Patients and Orange Bars indicate BRCA2 + patients
See this image and copyright information in PMC

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