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
4,8 million euros for prevention of tuberculosis among people with diabetes in Africa16 July 2019
Reinout van Crevel and Lindsey te Brake have received European funding of 4.8 million euros to lead an international consortium to screen thousands of people with diabetes in Uganda and Tanzania for TB, and investigate the effect and costs of 3 months preventive treatment for TB.read more
Handbook of biomarkers and precision medicine a new publication by Alain van Gool12 July 2019
Alain van Gool published a new handbook on biomarkers and applications in (pre)clinical drug development for precision medicine.read more
The real impact of menstrual complaints on work and school productivity8 July 2019
Menstrual period symptoms may be linked to nearly nine days of lost productivity every year, through presenteeism, suggests the largest study of its kind, published in the journal BMJ Open. But the real impact on women and society is underestimated and poorly appreciated, say the researchers.read more
Successful Summer School by CMBI, TML and Human Genetics8 July 2019
CMBI, TML and Human Genetics organized a successful Summer School on 'Integrative X-omics Analyses Empowering Personalized Healthcare'.read more