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

作者信息

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

机构信息

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.

出版信息

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


DOI:10.1007/s12672-025-02192-0
PMID:40355587
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12069179/
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.

摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f982/12069179/4e5982b72565/12672_2025_2192_Fig4_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f982/12069179/6cf19e67d612/12672_2025_2192_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f982/12069179/769c4b42ae8f/12672_2025_2192_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f982/12069179/9773b0562358/12672_2025_2192_Fig3_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f982/12069179/4e5982b72565/12672_2025_2192_Fig4_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f982/12069179/6cf19e67d612/12672_2025_2192_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f982/12069179/769c4b42ae8f/12672_2025_2192_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f982/12069179/9773b0562358/12672_2025_2192_Fig3_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f982/12069179/4e5982b72565/12672_2025_2192_Fig4_HTML.jpg

相似文献

[1]
Genetic insights into BRCA1/2 associated breast cancer in Türkiye: focus on early-onset and aggressive subtypes.

Discov Oncol. 2025-5-13

[2]
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Breast Cancer Res. 2012-11-2

[3]
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[4]
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Breast Cancer Res Treat. 2011-3-11

[5]
Contribution of BRCA1 5382insC mutation in triple negative breast cancer in Tunisia.

J Transl Med. 2019-4-11

[6]
A multi-institutional study on the association between BRCA1/BRCA2 mutational status and triple-negative breast cancer in familial breast cancer patients.

Breast Cancer Res Treat. 2014-7

[7]
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[8]
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Breast Cancer Res Treat. 2025-6

[9]
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BMC Cancer. 2023-4-13

[10]
[Application of next-generation sequencing in detection of BRCA1/2 and homologous recombination repair pathway multi-genes germline mutation and correlation analysis].

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本文引用的文献

[1]
Population-based germline breast cancer gene association studies and meta-analysis to inform wider mainstream testing.

Ann Oncol. 2024-10

[2]
Genetic Basis of Breast and Ovarian Cancer: Approaches and Lessons Learnt from Three Decades of Inherited Predisposition Testing.

Genes (Basel). 2024-2-8

[3]
Germline mutational variants of Turkish ovarian cancer patients suspected of Hereditary Breast and Ovarian Cancer (HBOC) by next-generation sequencing.

Pathol Res Pract. 2024-2

[4]
NCCN Guidelines® Insights: Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 2.2024.

J Natl Compr Canc Netw. 2023-10

[5]
Diverse genetic spectrum among patients who met the criteria of hereditary breast, ovarian and pancreatic cancer syndrome.

J Gynecol Oncol. 2023-9

[6]
Analysis of risk factors associated with breast cancer in women: a systematic review and meta-analysis.

Transl Cancer Res. 2022-5

[7]
Variant interpretation using population databases: Lessons from gnomAD.

Hum Mutat. 2022-8

[8]
Retrospective Analysis of Clinicopathological Features and Familial Cancer History of Synchronous Bilateral Breast Cancer.

Healthcare (Basel). 2021-9-13

[9]
Correlation between family history and characteristics of breast cancer.

Sci Rep. 2021-3-18

[10]
The relationship between BRCA-associated breast cancer and age factors: an analysis of the Japanese HBOC consortium database.

J Hum Genet. 2021-3

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