Unit of Histopathology and Molecular Diagnostics, Division of Pathology and Laboratory Medicine, IEO, European Institute of Oncology, IRCCS, Milan, Italy.
Department of Oncology and Hemato-Oncology, University of Milan, Milan, Italy.
J Clin Pathol. 2021 Oct;74(10):668-672. doi: 10.1136/jclinpath-2020-206800. Epub 2020 Oct 5.
BRCA tumour testing is a crucial tool for personalised therapy of patients with ovarian cancer. Since different next-generation sequencing (NGS) platforms and BRCA panels are available, the NGS Italian Network proposed to assess the robustness of different technologies.
Six centres, using four different technologies, provided raw data of 284 cases, including 75 cases with pathogenic/likely pathogenic variants, for a revision blindly performed by an external bioinformatic platform.
The third-party revision assessed that all the 284 raw data reached good quality parameters. The variant calling analysis confirmed all the 75 pathogenic/likely pathogenic variants, including challenging variants, achieving a concordance rate of 100% regardless of the panel, instrument and bioinformatic pipeline adopted. No additional variants were identified in the reanalysis of a subset of 41 cases.
BRCA tumour testing performed with different technologies in different centres, may achieve the realibility and reproducibility required for clinical diagnostic procedures.
BRCA 肿瘤检测是卵巢癌患者个体化治疗的重要工具。由于有多种不同的下一代测序（NGS）平台和 BRCA 面板可供选择，意大利 NGS 网络提出评估不同技术的稳健性。
六个中心使用四种不同的技术，为 284 例患者提供了原始数据，其中包括 75 例致病性/可能致病性变异的患者，由外部生物信息学平台进行盲法复查。
第三方复查评估所有 284 例原始数据均达到良好的质量参数。变异呼叫分析确认了所有 75 例致病性/可能致病性变异，包括具有挑战性的变异，无论采用的面板、仪器和生物信息学流程如何，均达到了 100%的一致性率。在对 41 例患者的子集进行重新分析时，没有发现其他变异。
不同中心使用不同技术进行的 BRCA 肿瘤检测，可以达到临床诊断程序所需的可靠性和可重复性。
