Genetic profiling of cell free circulating tumor DNA in breast cancer patients /
Mai Mohamed Elsayed Lotfy
Genetic profiling of cell free circulating tumor DNA in breast cancer patients / النمط الجيني للحمض النووي الديوكسي ريبوسي المتحرر من خلايا مرضى سرطان الثدي Mai Mohamed Elsayed Lotfy ; Supervised Abd Elrahman N. Zekri , Amany Abd Elhameed Aboubakr , Zeinab Korany M. Hassan - 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 Cohens 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 Cohens Kappa which implies a statistically significant disagreement between the two platforms
Breast cancer patients Circulating tumor DNA
Genetic profiling of cell free circulating tumor DNA in breast cancer patients / النمط الجيني للحمض النووي الديوكسي ريبوسي المتحرر من خلايا مرضى سرطان الثدي Mai Mohamed Elsayed Lotfy ; Supervised Abd Elrahman N. Zekri , Amany Abd Elhameed Aboubakr , Zeinab Korany M. Hassan - 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 Cohens 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 Cohens Kappa which implies a statistically significant disagreement between the two platforms
Breast cancer patients Circulating tumor DNA