1q21 扩增型乳腺癌致癌基因的研究进展

Advances on oncogenes of 1q21 amplified breast cancer

摘要:

乳腺癌是一种异质性较高的肿瘤，染色体扩增是驱动肿瘤细胞异质性的主要原因之一。1q21 区域的扩增是 人类乳腺癌中最常见的基因组拷贝数变化事件，该区域扩增型乳腺癌患者的疾病进展、耐药性和死亡的风险均增加。与 1q21 扩增相关的染色体畸变会导致该区域内致癌基因的表达失调，进而诱发乳腺癌转移、化学耐药及肿瘤复发等。该文 对 1q21 扩增型乳腺癌相关的致癌基因及其功能研究进行综述，以期为开发和优化针对 1q21 扩增型乳腺癌的诊疗提供 科学依据。

Abstract:

Breast cancer is a highly heterogeneous tumor, and chromosome amplification is one of the main factors driving the heterogeneity of tumor cells. Amplification of the 1q21 region is the most common event of genome copy number change in human breast cancer, and patients with breast cancer with this region amplification are at increased risk of disease progression, drug resistance, and death. Chromosomal aberrations associated with the expansion of 1q21 can lead to the dysregulation of oncogene expression in this region, thereby inducing breast cancer metastasis, chemical resistance, and tumor recurrence. In this review, the oncogenes related to 1q21 amplified breast cancer and their functions were summarized, in order to provide scientific basis for the development and optimization of the diagnosis and treatment of 1q21 amplified breast cancer.