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Reliability and reproducibility among different platforms for tumour BRCA testing in ovarian cancer: a study of the Italian NGS Network
  1. Caterina Fumagalli1,
  2. Elena Guerini-Rocco1,2,
  3. Fiamma Buttitta3,4,
  4. Pierluigi Iapicca5,
  5. Wenqi You5,
  6. Michela Mauri5,
  7. Lara Felicioni6,
  8. Giancarlo Troncone7,
  9. Umberto Malapelle7,
  10. Aldo Scarpa8,9,
  11. Giuseppe Zamboni8,10,
  12. Daniele Calistri11,
  13. Massimo Barberis1,
  14. Antonio Marchetti3,4
  1. 1 Unit of Histopathology and Molecular Diagnostics, Division of Pathology and Laboratory Medicine, IEO, European Institute of Oncology, IRCCS, Milan, Italy
  2. 2 Department of Oncology and Hemato-Oncology, University of Milan, Milan, Italy
  3. 3 Laboratory of Diagnostic Molecular Oncology, Center for Advanced Studies and Technology (CAST), University of Chieti, Chieti, Italy
  4. 4 Department of Medical and Oral Sciences and Biotechnologies, University of Chieti, Chieti, Italy
  5. 5 SOPHiA GENETICS SA, Headquarters, Saint Sulpice, Switzerland
  6. 6 Department of Pathology, SS Annunziata Clinical Hospital, Chieti, Italy
  7. 7 Department of Public Health, University of Naples Federico II, Naples, Italy
  8. 8 Department of Diagnostics and Public Health, Section of Pathology, University of Verona, Verona, Italy
  9. 9 ARC-Net Centre for Applied Research on Cancer, Verona, Italy
  10. 10 Department of Pathology, IRCCS Sacro Cuore - Don Calabria-Negrar, Negrar, Italy
  11. 11 Laboratory of Biosciences, Istituto Scientifico Romagnolo per lo Studio e la Cura dei Tumori Srl, Meldola, Italy
  1. Correspondence to Professor Massimo Barberis, Clinic Unit of Histopathology and Molecular Diagnostics, Istituto Europeo di Oncologia, Milano 20141, Italy; Massimo.Barberis{at}


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.

  • ovarian neoplasms
  • pathology
  • molecular
  • molecular biology

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  • Handling editor Mona El-Bahrawy.

  • Twitter @UmbertoMalapel1

  • Contributors All authors of this manuscript have directly participated in the planning, execution and/or analysis of the study. All authors have read and approved the final version of the manuscript.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests None declared.

  • Provenance and peer review Not commissioned; externally peer reviewed.