Progress of clinical management in patients with breast cancer carrying BRCA1/2 germline pathogenic mutations — opportunities and challenges
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摘要: BRCA1/2胚系突乳腺癌具有特殊的发病机制及临床病理特征,其临床决策有别于散发性乳腺癌。随着基因测序技术的发展,越来越多的BRCA1/2突变乳腺癌被检测出。BRCA1/2突变乳腺癌的相关临床管理越来越得到重视。本文总结近年来的相关文献,对BRCA1/2突变乳腺癌患者的基因检测和手术、化疗、靶向治疗等诊疗进展进行综述,以期为BRCA1/2突变患者的临床决策提供帮助。Abstract: Patients with breast cancer carrying BRCA1/2 germline pathogenic mutations have a unique pathogenesis and clinicopathological characteristics, with potentially different clinical management, when compared to patients with sporadic breast cancers. A growing number of BRCA1/2-mutated breast cancers have been detected with the development of next-generation sequencing, which has led to an increasing interest in clinical management of these patients. In this review, we summarize recent studies on genetic testing and systematic treatment, including surgery, chemotherapy, and targeted therapy, to assist in treatment decisions for BRCA1/2-mutated breast cancers.
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Key words:
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BRCA1/2gene
/ - clinical decisions /
- surgery /
- PARP inhibitors
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BRCA1/2gene
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