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中华乳腺病杂志(电子版) ›› 2018, Vol. 12 ›› Issue (06) : 329 -334. doi: 10.3877/cma.j.issn.1674-0807.2018.06.003

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何谓精准:浅谈乳腺癌基因检测
李恒宇1, 盛湲1,()   
  1. 1. 200433 上海,海军军医大学附属长海医院甲乳外科
  • 收稿日期:2018-05-02 出版日期:2018-12-01
  • 通信作者: 盛湲

Breast cancer genetic testing from the perspective of precision medicine

Hengyu Li1, Yuan Sheng1,()   

  1. 1. Department of Thyroid and Breast Surgery, Changhai Hospital, Navy Medical University, Shanghai 200433, China
  • Received:2018-05-02 Published:2018-12-01
  • Corresponding author: Yuan Sheng
  • About author:
    Corresponding author: Sheng Yuan, Email:
引用本文:

李恒宇, 盛湲. 何谓精准:浅谈乳腺癌基因检测[J/OL]. 中华乳腺病杂志(电子版), 2018, 12(06): 329-334.

Hengyu Li, Yuan Sheng. Breast cancer genetic testing from the perspective of precision medicine[J/OL]. Chinese Journal of Breast Disease(Electronic Edition), 2018, 12(06): 329-334.

乳腺癌的精准治疗是未来的发展趋势。随着测序技术的发展和检测成本的下降,基因检测广泛用于临床,逐渐成为指导临床决策的重要因素之一,但检测结果的可信度、治疗方案的可行性等方面仍有待完善。对于目前的基因检测,如果能做到检测可靠、机制清楚、功能明确、有靶向药物治疗,则说明其有临床指导价值。对于许多机制与功能未明的基因,在未经过科学合理的临床试验验证之前,其基因检测不能保证精准,也不推荐指导临床决策。笔者分别介绍了3个代表性的基因检测项目,包括BRCA1/2、ESR1及PIK3CA基因,探讨乳腺癌基因检测对精准治疗的意义。

Precision medicine is the future trend for breast cancer treatment. With the development of gene sequencing technology and the decline of detection cost, genetic testing is widely used in clinical practice, and has gradually become one of the important factors for clinical decision-making. However, the credibility of the test results and the feasibility of the treatment regimen still need to be improved. If the current method of genetic testing has reliable result, clear mechanism, definitive function and availability of effective drugs for targeted therapy, it can provide clinical guidance. For many genes with unclear mechanisms and functions, the accuracy of genetic testing cannot be guaranteed and more clinical trials are needed, so it is not recommended to guide clinical decision-making. We introduced the testing of three representative genes, including BRCA1/2, ESR1 and PIK3CA, to explore the clinical significance of breast cancer genetic testing from the perspective of precision medicine.

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