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

Journal of Clinical Pathology
Caterina FumagalliAntonio Marchetti

Abstract

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.

References

Oct 29, 2008·Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology·David S P TanMartin E Gore
Jan 7, 2015·CA: a Cancer Journal for Clinicians·Rebecca L SiegelAhmedin Jemal
Aug 16, 2016·European Journal of Human Genetics : EJHG·Andrew Wallace
Dec 19, 2017·Seminars in Oncology·Ettore CapoluongoDavid Gonzalez de Castro
Oct 23, 2018·The New England Journal of Medicine·Kathleen MoorePaul DiSilvestro
May 3, 2019·Annals of Oncology : Official Journal of the European Society for Medical Oncology·N ColomboESMO-ESGO Ovarian Cancer Consensus Conference Working Group
Jun 9, 2019·Critical Reviews in Oncology/hematology·Stefania GoriAIOM-SIGU-SIBIOC-SIAPEC-IAP Working Group
Sep 29, 2019·The New England Journal of Medicine·Antonio González-MartínPRIMA/ENGOT-OV26/GOG-3012 Investigators
Dec 19, 2019·The New England Journal of Medicine·Isabelle Ray-CoquardPAOLA-1 Investigators

Related Concepts

Ovarian Carcinoma
Extrinsic
BRCA2 Protein
Instrument - Device
Mutation Analysis
Breast Cancer Invasive NOS
Bio-Informatics
Entire Fetal Ossification Center
TAPBP protein, human
Revision Procedure

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