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Genetic testing in ovarian cancer – clinical impact and current practices

  • Laura Knabben EMAIL logo , Sara Imboden and Michel D. Mueller
Published/Copyright: October 2, 2019

Abstract

Background

Clinical practices and testing strategies in patients with ovarian cancer differ worldwide. We therefor wanted to give an overview over the current data to advise best clinical practice.

Materials and methods

A systematic review of the literature was performed with the aim to define which ovarian cancer patients to refer for genetic counseling and how to perform genetic testing. We also discuss the timing of genetic testing and clinical relevance of the BRCA mutation status.

Results

The germline mutation rate in patients with ovarian cancer is high, independent of family history, age at diagnosis and histology. BRCA mutation carriers with ovarian cancer have improved survival rates. In recurrent ovarian cancer treatment by poly ADP ribose polymerase (PARP) inhibitors improves the disease-free survival in patients with BRCA mutations or homologous recombination deficiency with hazard ratios up to 0.23. But also patients with BRCA wild type show a benefit. The recently published SOLO-1 trial demonstrated a significant benefit for patients with germline BRCA mutations in the first line setting. By tumor testing about 7% additional BRCA mutations can be found but the somatic testing and interpretation of the results remains a challenge. Despite the clinical impact, analysis of our own data and also international publications show insufficient referral rates for genetic counseling.

Conclusions

Genetic testing in ovarian cancer has a prognostic and predictive value. Referral rates must be improved.

Author statement

  1. Research funding: None declared.

  2. Conflict of interest: None declared.

  3. Informed consent: Not applicable.

  4. Ethical approval: Not applicable.

References

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Received: 2019-05-31
Accepted: 2019-08-29
Published Online: 2019-10-02

© 2019 Walter de Gruyter GmbH, Berlin/Boston

Articles in the same Issue

  1. Special Section: "Update in the management of ovarian cancer"; Guest Editors: René Druckmann and Adolf E. Schindler
  2. Editorial
  3. Preface to special issue: update in the management of ovarian cancer
  4. Original Article
  5. Ovarian cancer screening in the general population
  6. Review Articles
  7. Non-surgical prevention strategies in women with hereditary breast and ovarian cancer syndromes
  8. Hyperthermic intraperitoneal chemotherapy in ovarian cancer: an update
  9. Genetic testing in ovarian cancer – clinical impact and current practices
  10. The place of secondary complete cytoreductive surgery in advanced ovarian cancer
  11. An update on preoperative assessment of the resectability of advanced ovarian cancer
  12. Impact of retroperitoneal lymph node dissection in ovarian cancer – time for paradigm shift?
  13. Minireviews
  14. Ultrasound screening of ovarian cancer
  15. How to manage BRCA mutation carriers?
  16. Regular Issue
  17. Original Articles
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