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

Abstract

IntroductionBRCA 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.MethodsSix 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.ResultsThe 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.ConclusionsBRCA tumour testing performed with different technologies in different centres, may achieve the realibility and reproducibility required for clinical diagnostic procedures.

Tumor BRCA Testing in Epithelial Ovarian Cancers: Past and Future—Five-Years’ Single-Institution Experience of 762 Consecutive Patients

“…In this context, the robustness of tumor BRCA testing is crucial. In a study within the Italian NGS network, we recently demonstrated that BRCA tumor testing performed with different technologies in different centers may achieve the quality standards for reliability and reproducibility required in the clinical setting [ 30 ]. For 256 cases, the germline BRCA status was available.…”

BRCA1/2 NGS Somatic Testing in Clinical Practice: A Short Report

“…This strongly suggests the need to integrate BRCA1/2 testing into routine clinical practice ( Figure 1 ). In this setting, NGS, a robust and highly sensitive technology, provides clinicians with the opportunity to comprehensively evaluate BRCA1/2 molecular status in both HGSOC and other types of cancer [ 18 ]. For over a decade now, NGS systems have revolutionized diagnostic practice by improving the success rates of molecular tests even when the diagnostic material is scant.…”

“…Currently, a plethora of NGS panels are commercially available for BRCA1/2 molecular testing. Despite the high heterogeneity in terms of technical approaches (e.g., chemistry, library preparations, and sequencing analysis) and data analysis (e.g., metrics and bioinformatics pipelines), several studies have long demonstrated a high degree of concordance among the variant cells [ 18 ].…”