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Precision oncology of high-grade ovarian cancer defined through targeted sequencing

Wessman, Sandra ; Fuentes, Beatriz Bohorquez ; Törngren, Therese LU ; Kvist, Anders LU ; Kokaraki, Georgia ; Menkens, Hanna ; Hjerpe, Elisabet ; Hugo, Ythalo ; Petta, Tirzah Braz and Borg, Åke LU , et al. (2021) In Cancers 13(20).
Abstract

Background: We examined whether molecular characterization of high-grade epithelial ovarian cancer can inform the diagnosis and/or identify potential actionable targets. Methods: All of the consecutively sequenced high-grade ovarian tumours with consent between 2014 until 2019 were included. A total of 274 tumours underwent next generation sequencing using a targeted panel. Results: Patients with high-grade ovarian epithelial cancer were consented to prospective molecular characterization. Clinical information was extracted from their medical record. Tumour DNA was subjected to sequencing, and selected patients received PARP inhibitor therapy. Conclu-sions: Tumours from 274 women were sequenced, including high-grade serous carcinoma (n... (More)

Background: We examined whether molecular characterization of high-grade epithelial ovarian cancer can inform the diagnosis and/or identify potential actionable targets. Methods: All of the consecutively sequenced high-grade ovarian tumours with consent between 2014 until 2019 were included. A total of 274 tumours underwent next generation sequencing using a targeted panel. Results: Patients with high-grade ovarian epithelial cancer were consented to prospective molecular characterization. Clinical information was extracted from their medical record. Tumour DNA was subjected to sequencing, and selected patients received PARP inhibitor therapy. Conclu-sions: Tumours from 274 women were sequenced, including high-grade serous carcinoma (n = 252), clear cell carcinoma (n = 4), carcinosarcoma (n = 9), endometrioid carcinoma (n = 3), undifferentiated carcinoma (n = 1), and mixed tumours (n = 5). Genomic profiling did not influence histologic diag-nosis. Mutations were identified in TP53, BRCA1, BRCA2, as well as additional homologous recombination repair pathway genes BARD1, ATR, CHEK2, PALB2, RAD51D, RAD50, SLX4, FANCA, RAD51C, and RAD54L. In addition, mutations in PTEN and CDKN2A were identified. Several so-matic mutations with implications for germline testing were identified, including RMI1, STK11, and CDH1. Germline testing identified 16 previously unknown BRCA1/2 carriers. Finally, 20 patients were treated with the PARP inhibitor olaparib based on the sequencing results.

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organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
Genetics, Genomics, Ovarian cancer, Targeted therapy
in
Cancers
volume
13
issue
20
article number
5240
publisher
MDPI AG
external identifiers
  • pmid:34680387
  • scopus:85117229027
ISSN
2072-6694
DOI
10.3390/cancers13205240
language
English
LU publication?
yes
additional info
Publisher Copyright: © 2021 by the authors. Licensee MDPI, Basel, Switzerland.
id
a0ce14af-084c-4900-8698-48e239a2f476
date added to LUP
2021-11-01 15:03:24
date last changed
2024-06-15 19:45:51
@article{a0ce14af-084c-4900-8698-48e239a2f476,
  abstract     = {{<p>Background: We examined whether molecular characterization of high-grade epithelial ovarian cancer can inform the diagnosis and/or identify potential actionable targets. Methods: All of the consecutively sequenced high-grade ovarian tumours with consent between 2014 until 2019 were included. A total of 274 tumours underwent next generation sequencing using a targeted panel. Results: Patients with high-grade ovarian epithelial cancer were consented to prospective molecular characterization. Clinical information was extracted from their medical record. Tumour DNA was subjected to sequencing, and selected patients received PARP inhibitor therapy. Conclu-sions: Tumours from 274 women were sequenced, including high-grade serous carcinoma (n = 252), clear cell carcinoma (n = 4), carcinosarcoma (n = 9), endometrioid carcinoma (n = 3), undifferentiated carcinoma (n = 1), and mixed tumours (n = 5). Genomic profiling did not influence histologic diag-nosis. Mutations were identified in TP53, BRCA1, BRCA2, as well as additional homologous recombination repair pathway genes BARD1, ATR, CHEK2, PALB2, RAD51D, RAD50, SLX4, FANCA, RAD51C, and RAD54L. In addition, mutations in PTEN and CDKN2A were identified. Several so-matic mutations with implications for germline testing were identified, including RMI1, STK11, and CDH1. Germline testing identified 16 previously unknown BRCA1/2 carriers. Finally, 20 patients were treated with the PARP inhibitor olaparib based on the sequencing results.</p>}},
  author       = {{Wessman, Sandra and Fuentes, Beatriz Bohorquez and Törngren, Therese and Kvist, Anders and Kokaraki, Georgia and Menkens, Hanna and Hjerpe, Elisabet and Hugo, Ythalo and Petta, Tirzah Braz and Borg, Åke and Carlson, Joseph W.}},
  issn         = {{2072-6694}},
  keywords     = {{Genetics; Genomics; Ovarian cancer; Targeted therapy}},
  language     = {{eng}},
  month        = {{10}},
  number       = {{20}},
  publisher    = {{MDPI AG}},
  series       = {{Cancers}},
  title        = {{Precision oncology of high-grade ovarian cancer defined through targeted sequencing}},
  url          = {{http://dx.doi.org/10.3390/cancers13205240}},
  doi          = {{10.3390/cancers13205240}},
  volume       = {{13}},
  year         = {{2021}},
}