TEST:

Oncomine™ BRCA Research Assay

"GIS was positive in 40% of the BRCA1/2-negative cases. The RediScore bioinformatics algorithm developed for GIS calculation in combination with NGS BRCA1/2 analysis is a viable and effective approach for HRD calculation in patients with ovarian cancer, offering a positive prediction for PARP inhibitor responsiveness in 55% of the patients."

sBRCA and HRD analysis from SES was successful in 88% and 96% of samples and there were no differences regarding the timing of surgery or NACT. Conclusion Careful planning of UGB and stepwise tissue diagnosis with respect to influencing factors can increase the success rate of genomic analyses in HGSOC and could be a feasible alternative to SES.

NGS with an appropriately updated workflow proved reliable for comprehensive BRCA1/2 gene testing, including LGR screening, which could facilitate efficient and accurate decision-making regarding treatment.

These results indicate that the analysis in tumoral tissue has adequate sensitivity for the detection of germline mutations in the BRCA1/2 genes if the quality of the tissue DNA is sufficient. Furthermore, the tumoral biopsy study allows us to identify somatic al- terations in these genes.

Based on our data, we suggest somatic BRCA testing as standard diagnostic prescreening prior to germline BRCA testing. Thus, a rapid, reliable and affordable sBRCA testing could be used in the future as standard analysis after diagnosis with ovarian, breast, pancreatic and prostate cancer in routine diagnostics. This will immensely shorten the time for treatment decision, especially for patients without BRCA1/2 alterations since generally only patients with sBRCA mutations will be referred to the more time consuming genetic counselling and germline (gBRCA) testing.