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.

Reliability and reproducibility among different platforms for tumour BRCA testing in ovarian cancer : a study of the Italian NGS Network / C. Fumagalli, E. Guerini-Rocco, F. Buttitta, P. Iapicca, W. You, M. Mauri, L. Felicioni, G. Troncone, U. Malapelle, A. Scarpa, G. Zamboni, D. Calistri, M. Barberis, A. Marchetti. - In: JOURNAL OF CLINICAL PATHOLOGY. - ISSN 0021-9746. - (2020 Oct 05). [Epub ahead of print]

Reliability and reproducibility among different platforms for tumour BRCA testing in ovarian cancer : a study of the Italian NGS Network

E. Guerini-Rocco;
2020

Abstract

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.
molecular; molecular biology; ovarian neoplasms; pathology
Settore MED/08 - Anatomia Patologica
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2434/808381
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