Page 134 - SRPSKO DRUŠTVO ISTRAŽIVAČA RAKA

Serbian Association for Cancer Research SDIRSACR

Sophia DDM program, ANDAS Data Analyzer, and manual database searches were used for data analysis interpretation
of pathogenicity.
Results: A group of 162 samples (79.8%) was tested at IORS, and 41 (20.2%) were outsourced. In 40 patients (19.7%),
a BRCA1/2 deleterious variant was found, and those patients were classified as eligible for treatment with PARPi.
Additionally, 47 patients (23.15%) who were BRCA1/2 WT were HRD-positive, were also eligible for the same treatment.
Median GSS for AmoyDx was 29.6, and for SophiaDDM, the median GIS in the positive group was 7.2. In the cohort
tested at IORS, we analysed alterations in other genes from the HRR pathway. TP53 gene status was described as WT in
9.87%, VUS in 16.67%, and deleterious in 73.46% of samples. The total number of deleterious variants found in other
HRR genes was 67, with the highest frequency in PALB2 (24%), PTEN (15%), CHEK2 (13%), etc.
Conclusions: By implementing HRD testing in the diagnostic procedure, the number of patients who could benefit from
PARPi treatment was doubled.

Acknowledgments and funding: We acknowledge AstraZeneca for donating the BRCA and HRD tests used in this
nationwide testing. The study was designed, initiated, and conducted independently by Institute for Oncology and
Radiology of Serbia without sponsorship or involvement from AstraZeneca.

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