Genetic testing in ovarian cancer - clinical impact and current practices.

Knabben, Laura; Imboden, Sara; Mueller, Michael D. (2019). Genetic testing in ovarian cancer - clinical impact and current practices. Hormone molecular biology and clinical investigation, 41(3) de Gruyter 10.1515/hmbci-2019-0025

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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.

Item Type:

Journal Article (Review Article)


04 Faculty of Medicine > Department of Gynaecology, Paediatrics and Endocrinology (DFKE) > Clinic of Gynaecology

UniBE Contributor:

Knabben, Laura Michelle Tatjana; Imboden, Sara and Mueller, Michael


600 Technology > 610 Medicine & health




de Gruyter




Monika Zehr

Date Deposited:

24 Dec 2019 11:56

Last Modified:

26 Sep 2020 01:30

Publisher DOI:


PubMed ID:


Uncontrolled Keywords:

BRCA mutations PARP inhibitors genetic testing hereditary breast and ovarian cancer syndrome ovarian cancer


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