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Tytuł:
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Next-generation sequencing-based BRCA testing on cytological specimens from ovarian cancer ascites reveals high concordance with tumour tissue analysis.
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Autorzy:
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Fumagalli C; Division of Pathology, IEO, European Institute of Oncology, IRCCS, Milano, Italy.
Rappa A; Division of Pathology, IEO, European Institute of Oncology, IRCCS, Milano, Italy.
Casadio C; Division of Pathology, IEO, European Institute of Oncology, IRCCS, Milano, Italy.
Betella I; Division of Gynecologic Surgery, IEO, European Institute of Oncology, IRCCS, Milano, Italy.
Colombo N; Division of Gynecologic Oncology, IEO, European Institute of Oncology IRCCS, Milan, Italy.; School of Medicine and Surgery, Università degli Studi di Milano-Bicocca, Milan, Italy.
Barberis M; Division of Pathology, IEO, European Institute of Oncology, IRCCS, Milano, Italy .
Guerini-Rocco E; Department of Oncology and Hemato-Oncology, University of Milan, Milan, Italy.
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Źródło:
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Journal of clinical pathology [J Clin Pathol] 2020 Mar; Vol. 73 (3), pp. 168-171. Date of Electronic Publication: 2019 Sep 19.
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Typ publikacji:
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Comparative Study; Journal Article
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Język:
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English
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Imprint Name(s):
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Publication: London : BMJ Pub. Group
Original Publication: London : British Medical Association
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MeSH Terms:
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High-Throughput Nucleotide Sequencing*
Ascites/*genetics
BRCA1 Protein/*genetics
BRCA2 Protein/*genetics
Biomarkers, Tumor/*genetics
DNA Mutational Analysis/*methods
Ovarian Neoplasms/*genetics
Ascites/pathology ; Clinical Decision-Making ; Feasibility Studies ; Female ; Genetic Predisposition to Disease ; Humans ; Mutation ; Ovarian Neoplasms/drug therapy ; Ovarian Neoplasms/pathology ; Patient Selection ; Phenotype ; Phthalazines/therapeutic use ; Piperazines/therapeutic use ; Poly(ADP-ribose) Polymerase Inhibitors/therapeutic use ; Predictive Value of Tests
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Contributed Indexing:
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Keywords: cytopathology; molecular genetics; ovarian tumour
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Substance Nomenclature:
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0 (BRCA1 Protein)
0 (BRCA1 protein, human)
0 (BRCA2 Protein)
0 (BRCA2 protein, human)
0 (Biomarkers, Tumor)
0 (Phthalazines)
0 (Piperazines)
0 (Poly(ADP-ribose) Polymerase Inhibitors)
WOH1JD9AR8 (olaparib)
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Entry Date(s):
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Date Created: 20190921 Date Completed: 20200310 Latest Revision: 20200310
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Update Code:
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20240105
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DOI:
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10.1136/jclinpath-2019-206127
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PMID:
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31537627
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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.
Competing Interests: 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.
(© Author(s) (or their employer(s)) 2020. No commercial re-use. See rights and permissions. Published by BMJ.)
