Thesis (Ph.D.) - Cairo University - National Cancer Institute - Department of Cancer Biology

detected pathogenic variants (PVs) and likely pathogenic variants (LPVs). These genes were found to be involved in DNA repair mechanisms and WNT/Ý-catenin signalling pathways that will ultimately lead to cancer development. Also, it was revealed that 27.2% of the tissue-derived PVs/LPVs could be detected in ctDNAs, and 35.7% of ctDNA-derived PVs/LPVs could be found in paired tissues. The overall concordance rates for all of the identified somatic variants, PVs/LPVs only and genes carrying PVs/LPVs between both assays across all patients are 85.48%, 82.46% and 76.10%, respectively. According to their Cohen{u2019}s Kappa values, they have a statistically significant slight to fair agreement in both biopsies. While, the positive concordance rates for all of the identified somatic variants, PVs/LPVs only and the genes carrying PVs/LPVs in both assays across all patients are 28.77%, 7.79% and 11.56%, respectively. The level of agreement between the 2 assays -confined to the presence of concordant variants only- was represented by the negative values of Cohen{u2019}s Kappa which implies a statistically significant disagreement between the two platforms

Issued also as CD