TY - JOUR T1 - Reliability and reproducibility among different platforms for tumour BRCA testing in ovarian cancer: a study of the Italian NGS Network JF - Journal of Clinical Pathology JO - J Clin Pathol SP - 668 LP - 672 DO - 10.1136/jclinpath-2020-206800 VL - 74 IS - 10 AU - Caterina Fumagalli AU - Elena Guerini-Rocco AU - Fiamma Buttitta AU - Pierluigi Iapicca AU - Wenqi You AU - Michela Mauri AU - Lara Felicioni AU - Giancarlo Troncone AU - Umberto Malapelle AU - Aldo Scarpa AU - Giuseppe Zamboni AU - Daniele Calistri AU - Massimo Barberis AU - Antonio Marchetti Y1 - 2021/10/01 UR - http://jcp.bmj.com/content/74/10/668.abstract N2 - Introduction 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.Methods 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.Results 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.Conclusions BRCA tumour testing performed with different technologies in different centres, may achieve the realibility and reproducibility required for clinical diagnostic procedures. ER -