多基因检测及二代测序在乳腺癌精准治疗与预后评估中的应用进展

Advances in the Application of Polygenic Testing and Next-Generation Sequencing in Precision Therapy and Prognostic Evaluation of Breast Cancer

摘要: 乳腺癌是严重危害女性健康的常见恶性肿瘤，优化其治疗策略始终是临床研究的核心方向。分子生物学技术的飞速发展，使多基因检测与二代测序(NGS)逐步成为推动乳腺癌精准诊疗的重要技术手段。这些方法可全面识别癌症驱动基因，依据基因变异特征匹配靶向药物，并借助循环肿瘤DNA (ctDNA)分析等技术实时监测疗效，为及时调整治疗策略提供依据。目前，多个与乳腺癌预后及治疗反应密切相关的基因已被发现并投入临床应用。本文系统回顾多基因检测与NGS在乳腺癌个体化治疗及预后评估中的最新研究进展，以期为临床工作提供借鉴。

Abstract: Breast cancer continues to be a major contributor to cancer-related illness and death in women globally, prompting ongoing efforts to optimize treatment strategies. Progress in molecular biology has accelerated the adoption of polygenic testing and next-generation sequencing (NGS) as essential components of breast cancer care. These approaches allow for the detection of driver mutations, facilitate the selection of targeted therapies according to genetic characteristics, and employ circulating tumor DNA (ctDNA) analysis for real-time tracking of therapeutic response. A growing number of genes linked to treatment efficacy and prognosis have been identified through continuous investigation. This article systematically reviews the latest research progress of polygenic testing and NGS in the personalized treatment and prognostic assessment of breast cancer, aiming to provide insights for clinical practice.