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Next-generation sequencing-based BRCA testing on cytological specimens from ovarian cancer ascites reveals high concordance with tumour tissue analysis
  1. Caterina Fumagalli1,
  2. Alessandra Rappa1,
  3. Chiara Casadio1,
  4. Ilaria Betella2,
  5. Nicoletta Colombo3,4,
  6. Massimo Barberis1,
  7. Elena Guerini-Rocco5
  1. 1 Division of Pathology, IEO, European Institute of Oncology, IRCCS, Milano, Italy
  2. 2 Division of Gynecologic Surgery, IEO, European Institute of Oncology, IRCCS, Milano, Italy
  3. 3 Division of Gynecologic Oncology, IEO, European Institute of Oncology IRCCS, Milan, Italy
  4. 4 School of Medicine and Surgery, Università degli Studi di Milano-Bicocca, Milan, Italy
  5. 5 Department of Oncology and Hemato-Oncology, University of Milan, Milan, Italy
  1. Correspondence to Professor Massimo Barberis, Division of Pathology, European Institute of Oncology, IRCCS, Milano 20141, Italy; massimo.barberis{at}


Background With the approval of the poly (ADP-ribose) polymerase (PARP) inhibitor olaparib for newly diagnosed, breast cancer gene (BRCA)1/2 mutated, ovarian cancer women, the assessment of BRCA1/2 tumour status will be shortly required at the time of diagnosis.

Aim To investigate the feasibility of next-generation sequencing (NGS)-based BRCA tumour test on cytological specimens from ovarian cancer ascites.

Methods We evaluated the BRCA1/2 status on neoplastic ascites and corresponding tumour tissue of 11 patients with ovarian cancer, using the NGS ‘Oncomine BRCA Research Assay’.

Results The NGS-based BRCA test on cytological samples had a success rate of 100%, with 11 of 11 concordant BRCA1/2 results between ascites and tumour tissues analyses, including two wild type samples and nine cases harbouring somatic or germline variants.

Conclusion BRCA test may be performed on ovarian cancer ascites, reproducing BRCA1/2 tumour status and representing a useful tool for clinical decision-making.

  • ovarian tumour
  • cytopathology
  • molecular genetics

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  • Handling editor Runjan Chetty.

  • Contributors All the authors significantly contributed to the ideation, laboratory analysis, data elaboration and final manuscript writing and editing.

  • 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 CF received honoraria from Roche; EG-R received honoraria/advisory fee from Thermo Fisher Scientific, Roche, Novartis and AstraZeneca; and MB received honoraria from Thermo Fisher Scientific, Roche, BMS, MSD, and Biocartis.

  • Patient consent for publication Not required.

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