Somatic BRCA1 and BRCA2

Retrospective studies suggest that patients with ovarian carcinoma, carriers of a hereditary BRCA pathogenic variant, have a significantly more favorable prognosis, as this variant is predictive of sensitivity to platinum based chemotherapy. Furthermore, it has been shown that constitutional or somatic BRCA genes mutations in patients with advanced ovarian cancer are predictive biomarkers of sensitivity to inhibitors of poly (ADP-ribose) polymerase (PARP) enzyme, which plays a critical role in the repair of damaged single-stranded DNA.  

According to the latest AIOM “Recommendations for the implementation of BRCA testing in the care and treatment pathways of patients with ovarian cancer”, BRCA testing should be considered for all patients diagnosed with epithelial ovarian cancer (excluding the mucinous and borderline type), fallopian tube carcinoma and primary peritoneal cancer to complete the phase of molecular diagnostic, help guide therapy and facilitate access to pre-test genetic counseling for cancer-risk assessment.


Characteristics of the sample to be sent:


The test is performed on NGS platform within 7 working days from sample receipt.