土耳其BRCA1/2相关乳腺癌的遗传学见解：聚焦早发性和侵袭性亚型

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

目的

土耳其乳腺癌（BC）患者中BRCA1/2致病变异的患病率尚未得到充分描述。我们专门研究了与BRCA1/2突变状态相关的发病年龄和癌症亚型，重点关注无乳腺癌或卵巢癌家族史的患者。

方法

从3184名前往伊斯坦布尔大学肿瘤研究所就诊的BC患者中采集外周血样本。使用Illumina MiSeq®平台进行BRCA1/2突变的基因检测，并根据美国医学遗传学与基因组学学会（ACMG）标准进行变异分类。

结果

在3184名患者中，2764名（86.8%）为BRCA1/2阴性，247名（7.8%）为BRCA1阳性，173名（5.4%）为BRCA2阳性。与BRCA1/2阴性患者（43.17岁）相比，BRCA1阳性（39.73岁）和BRCA2阳性（41.07岁）患者的BC发病平均年龄显著更低（p<0.001）。在无家族史的患者中，HER2阳性病例的发病平均年龄显著高于三阴性乳腺癌（TNBC）病例（41.78岁对40.44岁，p=0.017）。