02564cam a2200349 a 4500 EG-GiCUC 20250223032814.0 210913s2021 ua dh f m 000 0 eng d EG-GiCUC eng EG-GiCUC eng Deposite Ph.D Cai01.19.02.Ph.D.2021.Ma.G Mai Mohamed Elsayed Lotfy Genetic profiling of cell free circulating tumor DNA in breast cancer patients / Mai Mohamed Elsayed Lotfy ; Supervised Abd Elrahman N. Zekri , Amany Abd Elhameed Aboubakr , Zeinab Korany M. Hassan النمط الجيني للحمض النووي الديوكسي ريبوسي المتحرر من خلايا مرضى سرطان الثدي Cairo : Mai Mohamed Elsayed Lotfy , 2021 138 P. : charts , facsimiles ; 25cm 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 Breast cancer patients Circulating tumor DNA Abdelrahman Nabawy Zekri , Supervisor Amany Abdelhhameed Aboubakr , Supervisor Zeinab Korany M. Hassan , Supervisor http://172.23.153.220/th.pdf Nazla Revisor Shimaa Cataloger ddc TH 82104 82104 ddc 0 CUCL cl210 2024-02-11 Cai01.19.02.Ph.D.2021.Ma.G 01010110084163000 2023-09-22 00:00:00 TH ddc 0 CUCL cl2u8 2024-02-11 Cai01.19.02.Ph.D.2021.Ma.G 01020110084163000 2023-09-22 00:00:00 84163.CD CD