Discrepancies in Genetic Testing Procedures of BRCA1/2 Mutations: A National Survey Across China
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ORIGINAL RESEARCH ARTICLE
Discrepancies in Genetic Testing Procedures of BRCA1/2 Mutations: A National Survey Across China Huanwen Wu1 · Binghe Xu2 · Qinglei Gao3 · Xiaoyan Zhou4,5 · Jianyong Shao6,7 · Zhiyong Liang1 · Ding Ma3
© Springer Nature Switzerland AG 2020
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.
1 Introduction
Key Points
Genetic testing of BRCA1/2 is beneficial for the diagnosis, prognosis, and prevention of breast and ovarian cancer [1–3]. Based on the risk factors, BRCAtesting for patients with breast and ovarian cancer is recommended by several standard guidelines including the American Society of Clinical Oncology, the National Comprehensive Cancer Network, and the National Institute for Health and Care Excellence [4, 5]. With the advent of more efficient sequencing technologies in recent years, multi-gene panel testing was adopted by
Our results show that there were several variations among the laboratories in technologies adopted, large genomic rearrangement detection, probe design, quality control, and variant of uncertain significance interpretation. The discrepancies observed in our study would affect the authenticity of results. There is a need for proper national and international guidelines for optimal BRCA1/2 testing clinical practice.
Huanwen Wu and Binghe Xu contributed equally to this work. Electronic supplementary material The online version of this article (https://doi.org/10.1007/s40291-020-00489-0) contains supplementary material, which is available to authorized users. * Zhiyong Liang [email protected]
3
Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China
* Ding Ma [email protected]
4
Department of Pathology, Fudan University Shanghai Cancer Center, Shanghai, China
5
Department of Oncology, Shanghai Medical College; Institute of Pathology, Fudan University, Shanghai, China
6
Department of Molecular Diagnostics, Sun Yat-Sen University Cancer Center, Guangzhou, China
7
Sun Yat‑Sen University Cancer Center, State Key Laboratory of Oncology in South China, Collaborative Innovation Center for Cancer Medici
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