Ny artikel - Homologous Recombination Deficiency Detection Algorithms, A Systematic Review

Simone Karlsson Terp skriver således om artiklen:

"Our systematic review on Homologous Recombination Deficiency (HRD) Detection Algorithms has just been published! 📑

HRD, arising from genomic mutations or alterations in the homologous recombination repair pathway, holds significance in tumor treatment, especially in PARP inhibitor sensitivity. Our systematic review analyzed 27 articles, comparing tests for HRD detection based on diverse definitions, biomarkers, and algorithms

The challenge? No established gold standard HRD test due to the lack of consensus on its definition. This review sheds light on the available tests, emphasizing the need for a standard definition crucial for accurate HRD classification."


Homologous recombination deficiency (HRD) can arise from germline or somatic pathogenic variants as well as other genomic damage and epigenetic alterations in the HR repair pathway. Patients with tumors presenting with an HRD phenotype can show sensitivity to Poly (ADP-ribose) polymerase inhibitors (PARPis). Several promising tests to detect HRD have been developed based on different HRD definitions, biomarkers, and algorithms. However, no consensus on a gold standard HRD test has been established. In this systematic review, a comprehensive list of tests for the detection of HRD was identified and compared regarding HRD definition, biomarkers, and algorithms. PubMed’s Medline and Elsevier’s Embase were systematically searched, resulting in 27 eligible articles meeting the inclusion criteria. The primary challenge when comparing HRD tests lies in the lack of a consensus definition of HRD, as the HRD definition influences the proportion of samples being classified as HRD and impacts the classification performance. This systematic review provides an overview of available HRD tests that can inspire other researchers in searching for a gold standard HRD definition and highlights the importance of the factors that should be considered when choosing an HRD definition and tests for future planning of clinical trials and studies.

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