在未经选择的ER-Low/HER2-阴性乳腺癌中生殖系BRCA1/2突变的患病率
Ji Won Yoo1, Jinyoung Byeon2, Woong Ki Park1
1Division of Breast Surgery, Department of Surgery, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea.
Annals of surgical oncology
|November 14, 2025
概括
低雌激素受体 (ER) 乳腺癌的BRCA1/2突变率与三阴性乳腺癌 (TNBC) 类似. 目前的指导方针可能错过了携带者;建议将基因检测扩展到包括低ER瘤.
科学领域:
- 在瘤学瘤学.
- 遗传学 是一个遗传学.
- 乳腺癌研究研究 乳腺癌研究
背景情况:
- 低雌激素受体 (ER) 乳腺癌与三阴性乳腺癌 (TNBC) 有共同的特征.
- 目前的BRCA1/2基因测试指南可能无法充分识别低ER人口中的突变载体.
- 需要更新指南,以满足低ER乳腺癌患者的特殊需求.
研究的目的:
- 为了比较低ER/HER2阴性乳腺癌与TNBC的BRCA1/2突变患病率.
- 为了确定ER低/HER2阴性乳腺癌患者是否需要与TNBC患者相同的BRCA1/2遗传测试标准.
主要方法:
- 在271名ER低/HER2阴性侵袭性乳腺癌患者的多中心回顾性研究中.
- 使用桑格测序或下一代测序进行的BRCA1/2遗传测试.
- 与920名未经选择的TNBC患者的队列进行比较.
主要成果:
- 致病性BRCA1/2突变在15.1%的ER低/HER2阴性患者中被发现,与TNBC中的13.2%相比.
- 在BRCA1突变中占主导地位,特别是在40岁以下的患者中 (25.4%).
- 基因突变携带者更年轻,更频繁地处于更年期前期,并且有更高的乳腺/卵巢癌家族史频率.
结论:
- 低ER/HER2阴性乳腺癌表现出与TNBC相似的BRCA1/2突变流行率.
- 目前仅基于ER表达的测试标准可能导致突变载体的诊断不足.
- 支持扩大BRCA1/2测试对ER低/HER2阴性瘤的资格,以确保及时识别和获得治疗.
相关概念视频
Mitogens and the Cell Cycle
7.7K
Mitogens and their receptors play a crucial role in controlling the progression of the cell cycle. However, the loss of mitogenic control over cell division leads to tumor formation. Therefore, mitogens and mitogen receptors play an important role in cancer research. For instance, the epidermal growth factor (EGF) - a type of mitogen and its transmembrane receptor (EGFR), decides the fate of the cell's proliferation. When EGF binds to EGFR, a member of the ErbB family of tyrosine kinase...
7.7K
Cancer-Critical Genes II: Tumor Suppressor Genes
9.3K
Genes usually encode proteins necessary for the proper functioning of a healthy cell. Mutations can often cause changes to the gene expression pattern, thereby altering the phenotype.
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...
9.3K
Targeted Cancer Therapies
8.6K
The targeted cancer therapies, also known as “molecular targeted therapies,” take advantage of the molecular and genetic differences between the cancer cells and the normal cells. It needs a thorough understanding of the cancer cells to develop drugs that can target specific molecular aspects that drive the growth, progression, and spread of cancer cells without affecting the growth and survival of other normal cells in the body.
There are several types of targeted therapies against...
There are several types of targeted therapies against...
8.6K


