Guidelines on clinical practice of molecular tests in breast cancer in China (2025 edition)

Breast cancer is one of the most prevalent malignancies among women globally and ranks second in the incidence of malignant tumors among Chinese women. It has become a significant public health issue that seriously threatens women's health, highlighting the urgent need to establish a precision prevention and treatment system. Currently, the diagnosis and treatment of breast cancer have transitioned from traditional histological classification to a precision medicine phase centered on molecular characteristics, significantly enhancing the specificity and effectiveness of clinical treatments. With the rapid development of molecular biology techniques, the continuous discovery and application of new biomarkers have fueled the growing demand for molecular pathological testing in clinical settings. The widespread use of various molecular testing platforms has driven clinical decision-making from population-based and standardized approaches to individualized and refined strategies. This shift enables clinicians to more accurately assess patient prognosis and predict treatment responses, thereby formulating more appropriate treatment plans. However, the emergence of new technologies and biomarkers has also increased the requirements for standardization, normalization of testing procedures, and the establishment of quality control. While this trend brings new opportunities for precision diagnosis and treatment of breast cancer, it also poses higher demands on clinical and pathological practices, necessitating the establishment of unified precision diagnosis and treatment pathways and consensus. The "Guidelines on clinical practice of molecular tests in breast cancer in China (2025 edition)" was developed through a multidisciplinary collaboration among experts in molecular pathology and breast oncology, integrating domestic clinical realities with international advancements. We systematically evaluated evidence quality (GRADE criteria) and recommendation strength based on global clinical studies and practical experiences. The guideline aims to harmonize localized molecular diagnostic expertise with global insights, addressing critical needs in precision therapeutics, hereditary susceptibility assessment, and prognostic recurrence risk stratification. It proposes optimized clinical testing algorithms, emphasizes multidisciplinary integration, and establishes standardized protocols to ensure robust implementation of molecular diagnostics in China. This document serves as an authoritative reference for clinicians and pathologists to refine individualized patient management and jointly promotes the realization of the "Healthy China 2030" strategic goal.

乳腺癌是全球女性高发恶性肿瘤之一，在中国女性恶性肿瘤发病率中位居第2位，已成为严重威胁女性健康的重大公共卫生问题，其精准防治体系建设具有极大的紧迫性与重要性。当前，乳腺癌诊疗模式已从基于组织学的传统分型进入以分子特征为核心的精准诊疗阶段，显著提升了临床治疗的针对性和有效性。随着分子生物学技术的快速发展，新型生物标志物不断发现并应用，推动临床对分子病理检测需求的持续增长。各类分子检测平台的广泛应用推动临床决策由群体化、标准化向个体化、精细化转变，有助于临床医师更准确地评估患者预后、预测治疗反应，从而制定更合理的治疗方案。而新技术与新标志物的不断出现，对检测流程标准化、规范化以及质量控制建设等提出更多要求。这一趋势在为乳腺癌精准诊疗带来新机遇的同时，也对临床和病理实践提出了更高要求，亟需建立统一的精准诊疗路径与共识。《乳腺癌分子病理检测临床实践指南（2025版）》由分子病理学和乳腺癌相关领域专家共同协作，基于国内外临床研究及实践，结合国内现状及发展趋势，对证据质量等级及推荐意见级别进行分级，最终制定并发布，旨在结合国内分子诊断检测经验及国际先进理念，对乳腺癌精准诊疗、遗传易感、预后复发风险评估等精准诊疗需求进行梳理，最终形成最适宜的临床检测策略、路径，倡导多学科合作，为国内有效开展分子诊断检测提供规范化指导，供临床及病理医师参考，共同推动 “健康中国2030”战略目标实现。.