13 May 2019

Women with epithelial ovarian cancer (OC) have a higher chance to benefit from PARP inhibitor (PARPi) therapy if their tumor has a somatic or hereditary BRCA1/2 pathogenic variant. Current guidelines advise BRCA1/2 genetic predisposition testing for all OC patients, though this does not detect somatic variants.

Marjolijn Ligtenberg, Janet Vos and Nicoline Hoogerbrugge, theme Tumors of the digestive tract, and colleagues, assessed the feasibility of a workflow for universal tumor DNA BRCA1/2 testing of all newly diagnosed OC patients as prescreen for PARPi treatment and cancer predisposition testing. They have published their findings in the Journal of the National Cancer Institute. 

Formalin fixed paraffin embedded (FFPE) tissue from newly diagnosed OC patients in seven hospitals, were tested for tumor BRCA1/2 variants. Diagnostic yield, uptake, referral rates for genetic predisposition testing, and experiences of patients and gynecologists were evaluated.

Tumor BRCA1/2 testing was performed for 315 (77.6%) of the 406 eligible OC samples, of which 305 (96.8%) were successful. In 51 of these patients pathogenic variants were detected (16.7%). Most patients (88.2%) went on to have a genetic predisposition test. BRCA1/2 pathogenic variants were shown to be hereditary in 56.8% and somatic in 43.2% patients. Participating gynecologists and patients were overwhelmingly positive about the workflow.

They concluded that universal tumor BRCA1/2 testing in all newly diagnosed OC patients is feasible, effective and appreciated by patients and gynecologists. Because many variants cannot be detected in DNA from blood, testing tumor DNA as the first step can double the identification rate of patients who stand to benefit most from PARP inhibitors.

 
  • Want to know more about these subjects? Click on the buttons below for more news.

    Genetics

Related news items


Awarded KWF grants for Radboudumc researchers

18 December 2019 KWF is investing 2.7 million euros in five different studies at Radboudumc. The awards are part of the new round of funding by DCS, in which over 34 million euros will be granted to Dutch cancer research. We congratulate our researchers with this funding and wish them success with their great work. read more

Exploration meeting Academic Alliance on Oncology

2 December 2019 Within the Academic Alliance, the Maastricht UMC+ and Radboudumc are already working together in several areas. And this is happening in more and more fields. On 27 November researchers from both umc's met during the fourth Exploration meeting, this time with the theme: Oncology. read more

KWF Roadshow 11 November 2019

10 October 2019 In which way(s) can KWF provide optimal support to oncological research and care? How can we maximize impact on our investments? These questions are pivotal in Ambition 2030: the vision that KWF developed in close cooperation with stakeholders in the oncological field. read more

Internal KWF review procedure 2020

13 June 2019 In agreement with the existing policy the research board and Radboud Center for Oncology have decided to continue with the mandatory internal review procedure for KWF grant applications. read more

Internal KWF review procedure 2019

4 April 2019 In agreement with the existing policy the research board and Radboudumc Center for Oncology have decided to continue with the mandatory internal review procedure for KWF grant applications. read more

Internal KWF review procedure 2019

19 December 2018 In agreement with the existing policy the research board and Radboud Center for Oncology have decided to continue with the mandatory internal review procedure for KWF grant applications. read more