HRD occurs when cells lose their ability to repair double-stranded DNA breaks via the high-fidelity, homologous recombination repair (HRR) mechanism. Multiple genes mediate the HRR pathway with BRCA1/BRCA2 being the most well characterized. However, HRD can also be a consequence of defects in other HRR genes and may lead to genomic structural alterations known as “genomic scars”.
HRD is a hallmark of approximately 50% of ovarian cancers and is a predictive marker for response to poly (ADP-ribose) polymerase (PARP) inhibitor treatment.
Introduction of new diagnostic tests in clinical practice presents certain challenges. EQA is an essential tool to monitor quality and benchmark results to help improve quality of testing.
This HRD testing in ovarian cancer pilot scheme was facilitated by IQN Path with the aims to:
• Develop a model for the on-going provision of this EQA scheme.
• Promote high quality HRD testing through harmonisation of practice and publication of EQA results.
