乳腺癌易感基因研究进展：从突变机制到临床应用

Progress in Breast Cancer Susceptibility Gene Research: From Mutation Mechanisms to Clinical Applications

摘要: 乳腺癌是全球女性发病率最高的恶性肿瘤，其发生与遗传因素紧密相关。近年来，乳腺癌易感基因研究取得显著进展，为疾病的早期筛查、精准诊断和个体化治疗提供了新方向。本文从国内外两方面综述乳腺癌易感基因研究现状。国内研究聚焦于BRCA1/2基因突变的检测、与临床特征的关联及治疗策略探索，同时关注CDCA8、SHC1等其他易感基因的作用；国外研究在BRCA1/2基因突变的机制、临床特征、遗传咨询和靶向治疗等方面更为深入。目前，BRCA1/2基因突变与其他基因变异的交互作用、不同种族人群的突变谱差异等问题有待进一步研究。未来研究应注重多学科合作，整合多组学技术，以实现乳腺癌的精准分型和个体化治疗。

Abstract: Breast cancer is the most prevalent malignant tumor among women worldwide, and its occurrence is closely related to genetic factors. In recent years, significant progress has been made in the research of breast cancer susceptibility genes, providing new directions for early screening, precise diagnosis, and personalized treatment. This paper reviews the current status of research on breast cancer susceptibility genes from both domestic and international perspectives. Domestic research focuses on the detection of BRCA1/2 gene mutations, their association with clinical features, and exploration of treatment strategies, while also paying attention to the role of other susceptibility genes such as CDCA8 and SHC1. International research has delved deeper into the mechanisms of BRCA1/2 gene mutations, clinical characteristics, genetic counseling, and targeted therapy. At present, issues such as the interactions between BRCA1/2 gene mutations and other gene variations, as well as the mutation spectrum differences among different racial groups, remain to be further studied. Future research should emphasize interdisciplinary collaboration and the integration of multi-omics technologies to achieve precise subtyping and personalized treatment of breast cancer.