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中国乳腺癌患者
BRCA1/2 基因检测与临床应用专家共识（2025年版）Expert consensus on
BRCA1/2 gene testing and clinical application in Chinese breast cancer patients (2025 edition)- 中国癌症杂志 2025年35卷第7期 页码：710-734
- 作者机构：
中国抗癌协会乳腺癌专业委员会；中国医师协会临床精准医疗专业委员会；中国抗癌协会肿瘤异质性与个体化治疗专业委员会
- 作者简介：
王红霞（ORCID: 0000-0003-3481-6940），博士，主任医师，复旦大学附属肿瘤医院肿瘤内科主任；
殷咏梅（ORCID: 0000-0003-3335-369X），博士，主任医师，江苏省人民医院副院长；
胡夕春（ORCID: 0000-0002-9892-699X），博士，主任医师，复旦大学附属肿瘤医院肿瘤内科临床首席专家。
- 基金信息：
DOI：10.19401/j.cnki.1007-3639.2025.07.010
中图分类号： R737.9收稿：2025-06-16，
修回：2025-07-14，
纸质出版：2025-07-30
- 稿件说明：
移动端阅览
王红霞, 殷咏梅, 胡夕春. 中国乳腺癌患者
BRCA1/2 基因检测与临床应用专家共识（2025年版）[J]. 中国癌症杂志, 2025,35(7):710-734.Hongxia WANG, Yongmei YIN, Xichun HU. Expert consensus on
BRCA1/2 gene testing and clinical application in Chinese breast cancer patients (2025 edition)[J]. China Oncology, 2025, 35(7): 710-734.王红霞, 殷咏梅, 胡夕春. 中国乳腺癌患者
BRCA1/2 基因检测与临床应用专家共识（2025年版）[J]. 中国癌症杂志, 2025,35(7):710-734. DOI： 10.19401/j.cnki.1007-3639.2025.07.010.Hongxia WANG, Yongmei YIN, Xichun HU. Expert consensus on
BRCA1/2 gene testing and clinical application in Chinese breast cancer patients (2025 edition)[J]. China Oncology, 2025, 35(7): 710-734. DOI： 10.19401/j.cnki.1007-3639.2025.07.010.
摘要
乳腺癌是中国女性常见的恶性肿瘤之一，其中遗传性乳腺癌占5%~10%，
BRCA1/2
基因突变是最主要的遗传易感因素。近年来，
尽管多腺苷二磷酸核糖聚合酶[poly (ADP-ribose) polymerase，PARP
]
抑制剂等靶向药物的应用改善了
BRCA
突变乳腺癌患者的预后，但在临床实践中仍存在诸多亟待解决的问题，包括突变检测的规范化、精准治疗策略的优化及长期管理的完善等。针对这些临床问题，本共识专家组基于《中国乳腺癌患者
BRCA1/2
基因检测与临床应用专家共识（2018年版）》及国内外最新循证医学证据，结合中国临床实践特点，对
BRCA1/2
基因检测的适用人群、检测方法、结果解读、治疗策略和风险管理等关键环节进行了系统评估和深入讨论，最终形成《中国乳腺癌患者
BRCA1/2
基因检测与临床应用专家共识（2025年版）》。主要更新内容包括：① 增加
BRCA1/2
基因突变与程序性死亡蛋白配体-1（programmed death ligand-1，PD-L1）表达的关系，以及
BRCA
ness类型的相关内容；② 规范基因检测的应用，如增加临床检测的意义、时机及样本选择、优化
BRCA
检测人群；③ 更新治疗策略，如
BRCA1/2
基因突变的非药物治疗、
BRCA1/2
基因突变三阴性乳腺癌（triple-negative breast cancer，TNBC）患者的治疗、
BRCA1/2
基因突变激素受体（hormone receptor，HR）
+
/人表皮生长因子受体2（human epidermal growth factor receptor 2，HER2）
-
乳腺癌患者的治疗决策、PARP抑制剂的临床使用及不良反应管理；④ 增加长期风险管理的相关内容，如涵盖随访管理、预防性手术指征、新增基因检测的质量控制与要求、更新基因检测流程、报告内容及解读等。本共识旨在为临床医师提供规范化的诊疗指导，推动
BRCA
基因突变乳腺癌的精准医疗发展，最终改善患者生存及预后。随着研究的深入，本共识今后将持续更新以纳入最新的循证医学证据。本共识已在国际实践指南注册平台（Practice guideline REgistration for transPAREncy，PREPARE）注册，注册号为PREPARE-2025CN1085。
Abstract
Breast cancer remains one of the frequently diagnosed malignant tumors among Chinese women
with hereditary cases accounting for 5%-10% of all diagnoses
where
BRCA1/2
gene mutations serve as the primary genetic predisposition factors. Although targeted therapies like poly (ADP-ribose) polymerase (PARP) inhibitors have significantly improved prognoses for patients with
BRCA
-mutated breast cancer in recent years
critical clinical challenges persist
including the standardization of genetic testing protocols
optimization of precision treatment approaches
and refinement of long-term management strategies. In response to these challenges
our expert panel has conducted a comprehensive update to the 2018 Edition of this consensus by integrating the latest global evidence-based medical research with China’s
unique clinical practice characteristics. This 2025 Edition provides systematic evaluations and recommendations on five key aspects: indications for
BRCA1/2
gene testing
testing methodologies
result interpretation
treatment strategies
and risk management. The main updates include: ① Increasing the relationship between
BRCA1/2
gene mutations and programmed death ligand-1 (PD-L1) expression
as well as related content on
BRCA
ness types; ② Standardizing the application of genetic testing
such as increasing the significance
timing
and sample selection of clinical testing
and optimizing the
BRCA
testing population; ③ Updating treatment strategies
such as non-drug treatment of
BRCA1/2
gene mutation
treatment of triple negative breast cancer (TNBC) patients with
BRCA1/2
gene mutation
treatment decisions of hormone receptor (HR)
+
/human epidermal growth factor receptor 2 (HER2)
-
breast cancer patients with
BRCA1/2
gene mutation
clinical use of PARP inhibitors and adverse reaction management; ④ Addion of relevant content on long-term risk management
such as covering follow-up management
indications for preventive surgery
quality control and requirements for new genetic testing
updating genetic testing processes
report content and interpretation. This consensus aimed to establish standardized diagnostic and therapeutic frameworks for clinicians
advance precision medicine in
BRCA
-mutated breast cancer
and ultimately improve patient survival outcomes. As new evidence emerges
continuous updates will be implemented to incorporate the latest research findings. This consensus has been registered on the Practice guideline REgistration for transPAREncy (PREPARE) platform (registration number: PREPARE-2025CN1085).
关键词
Keywords
references
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