The Utility of Comprehensive NGS Analysis in Homologous Recombination Deficiency Tracking

Aikaterini Tsantikidi; Eirini Papadopoulou; Georgios Tsaousis; Vasiliki Metaxa-Mariatou; George Kapetsis; Chrysiida Florou-Chatzigiannidou; Angeliki Meintani; Maria Gazouli; Christos Papadimitriou; Eleni Timotheadou; Athanasios Kotsakis; Anastasios Boutis; Ioannis Boukovinas; Eleftherios Kampletsas; Loukas Kontovinis; Elena Fountzilas; Charalampos Andreadis; Charisios Karanikiotis; Dimitrios Philippou; Georgios Theodoropoulos; Mustafa Özdoğan; George Nasioulas

doi:10.20944/preprints202307.0781.v1

Preprint Article Version 1 Preserved in Portico This version is not peer-reviewed

Version 1 : Received: 11 July 2023 / Approved: 11 July 2023 / Online: 12 July 2023 (07:50:04 CEST)

Several tumor types have been efficiently treated with PARPis, which are now approved for the treatment of ovarian, breast, prostate, and pancreatic cancer. The BRCA1/2 genes and mutations in many additional genes involved in the HR pathway may be responsible for the HRD phenomenon. In the present study, an NGS assay was used to analyze 513 genes associated with targeted and immuno-oncology therapies in 406 samples. In addition, the %gLOH values of 24 samples were also calculated using the Affymetrix technology to compare the results obtained by the two methodologies. HR variations occurred in 20.93% of the malignancies, while BRCA1/2 gene alterations in 5.17%. %LOH was highly correlated with alterations in the BRCA1/2 genes since 76.19% (16/21) of the BRCA1/2 positive tumors had a high %LOH value (p=0.007). Moreover, the LOH status was highly correlated with the TP53 and KRAS statuses, but there was no association with the TMB value. Lin's Concordance Correlation Coefficient for the 24 evaluable samples simultaneously examined by both assays was 0.87, indicating a nearly perfect agreement. In conclusion, the addition of gLOH analysis could assist the detection of additional patients eligible for PARPis

DNA repair; homologous recombination deficiency; biomarkers; precision oncology; loss of heterozygosity; inhibitors of poly (ADP-ribose) polymerase (PARP)

Biology and Life Sciences, Life Sciences

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The Utility of Comprehensive NGS Analysis in Homologous Recombination Deficiency Tracking

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