Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 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.

PubMed Disclaimer

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

Similar articles

See all similar articles

References

    1. Society AC. Breast cancer risk and prevention
    1. Valencia OM, et al. The role of genetic testing in patients with breast cancer: a review. JAMA Surg. 2017;152(6):589–94. - PubMed
    1. Bradbury AR, Olopade OI. Genetic susceptibility to breast cancer. Rev Endocr Metab Disord. 2007;8(3):255–67. - PubMed
    1. Institute NC. Cancer Stat Facts: Female Breast Cancer. 2024.
    1. Okano M, et al. The relationship between BRCA associated breast cancer and age factors: an analysis of the Japanese HBOC consortium database. J Hum Genet. 2021;66(3):307–14. - PMC - PubMed

LinkOut - more resources