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Discrepancies in Genetic Testing Procedures of BRCA1/2 Mutations: A National Survey Across China

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A Correction to this article was published on 21 January 2021

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Abstract

International guidelines recommend BRCA testing for patients with breast and ovarian cancer. Little is known about the genetic testing practices of BRCA1/2 mutations in laboratories across China. This study was designed to assess the discrepancies in genetic testing procedures of BRCA1/2 mutations across China. An online survey was developed for depicting the BRCA1/2 testing landscape in China. Our results show that there were several variations among the laboratories in technologies adopted, large genomic rearrangement detection, probe design, quality control, variant of uncertain significance interpretation, and disposition of variants in public databases. The discrepancies observed in our study would affect the authenticity of results, thus necessitating the formulation of proper national and international guidelines for optimal BRCA1/2 testing clinical practice for efficient management and patient care of this population.

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Change history

  • 21 January 2021

    In the original publication of the article, text in Table 1 has a few errors as mentioned below.

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Acknowledgements

The authors acknowledge all the laboratories that participated in the online survey and quality-control testing. We thank Dr Anuradha Nalli (Ph.D.) and Dr Amit Bhat (Ph.D.) [Indegene, Bangalore, India] for providing medical writing support and Xuesong Lu (Ph.D.) and Fang Yang (Ph.D.) (AstraZeneca, China) for technical assistance in the development of this manuscript. This article was organized by the China Association for Medical Devices Industry and funded by AstraZeneca China, MSD China, Illumina China, and ThermoFisher China. This research is supported by the Chinese Academy of Medical Sciences (CAMS) Initiative for Innovative Medicine (CAMS-I2M) [Project No. 2016-I2M-1-002].

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Author notes

  1. Huanwen Wu and Binghe Xu contributed equally to this work.

Authors and Affiliations

  1. Department of Pathology, Molecular Pathology Research Center, Peking Union Medical College Hospital, Chinese Academy of Medical Science and Peking Union Medical College, Beijing, China

    Huanwen Wu & Zhiyong Liang

  2. National Cancer Center/Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China

    Binghe Xu

  3. Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China

    Qinglei Gao & Ding Ma

  4. Department of Pathology, Fudan University Shanghai Cancer Center, Shanghai, China

    Xiaoyan Zhou

  5. Department of Oncology, Shanghai Medical College; Institute of Pathology, Fudan University, Shanghai, China

    Xiaoyan Zhou

  6. Department of Molecular Diagnostics, Sun Yat-Sen University Cancer Center, Guangzhou, China

    Jianyong Shao

  7. Sun Yat-Sen University Cancer Center, State Key Laboratory of Oncology in South China, Collaborative Innovation Center for Cancer Medicine, Guangzhou, China

    Jianyong Shao

Authors
  1. Huanwen Wu
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  2. Binghe Xu
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Corresponding authors

Correspondence to Zhiyong Liang or Ding Ma.

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Funding

This study was sponsored by AstraZeneca China, MSD China, Illumina China, and ThermoFisher China.

Conflict of Interest

Huanwen Wu, Binghe Xu, Qinglei Gao, Xiaoyan Zhou, Jianyong Shao, Zhiyong Liang, and Ding Ma have no conflicts of interest that are directly relevant to the content of this article.

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The raw data supporting the conclusions of this manuscript will be made available by the authors, without undue reservation, to any qualified researcher.

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Wu, H., Xu, B., Gao, Q. et al. Discrepancies in Genetic Testing Procedures of BRCA1/2 Mutations: A National Survey Across China. Mol Diagn Ther 24, 715–721 (2020). https://doi.org/10.1007/s40291-020-00489-0

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  • DOI: https://doi.org/10.1007/s40291-020-00489-0

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