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.

 

Related news items


Rob ter Horst in Dutch television broadcast Brandpunt Plus

21 May 2019

In a Dutch television broadcast, called Brandpunt Plus, Rob ter Horst, PhD candidate, theme Infectious diseases and global health, explains how he records data about himself and what he hopes to find out about himself.

read more

How do we keep new technology affordable to improve the lives of people?

16 May 2019

Improving healthcare by means of new technological developments? We need to change the entire approach for evaluating the true impact , says Maroeska Rovers. By bringing together all stakeholders from the beginning, millions of euros can be saved.

read more

RIMLSpeaks Challenge for change

15 May 2019

The third edition of RIMLSpeaks entitled “Challenge for change" was organized for all our (j)PI’s in Huize Heyendael.

read more

Join the Young Academy of Europe

15 May 2019

The YAE is a pan-European initiative of outstanding young researchers, from all fields, for networking, scientific exchange and science policy.

read more

Dutch Kidney Foundation Innovation grant for Tom Nijenhuis

14 May 2019

Tom Nijenhuis, theme Renal disorders, received this grant for his research project “Salt supplementation in Gitelman syndrome: A simple intervention using an innovative N-of-1 trial approach”.

read more

Algorithm calculates the presence and aggressiveness of prostate tumors

14 May 2019

A computer program that analyzes MRI images can reliably map the presence and even the aggressiveness of a prostate tumor. This is what Radboudumc researchers and international colleagues have published in the scientific journal Investigative Radiology.

read more