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Analysis of genetic factors of breast cancer
Chmelařová, Žaneta ; Kleiblová, Petra (advisor) ; Brynychová, Veronika (referee)
The thesis The analysis of genetic factors of breast cancer by NGS deals with the current serious problematics of breast cancer from the perspective of genetic predisposition. Breast cancer is one of the most common tumors in women. Every year more than 7000 women are diagnosed with this disease and the mortality rate in the Czech Republic is nearly 2000 cases. Of the total number of patients diagnosed with breast cancer, approximately ten percent of patients have congenital mutations in one of the predisposing genes that cause a significantly increased risk of developing a cancer. More than half of these mutations occur in germline mutations of the BRCA1 or BRCA2 genes, others include a number of other genes, eg tp53, CDH1, PTEN, STK11, ATM, PALB2, CHEK2.Early diagnosis and identification of persons with increased risk of developing breast cancer is of key importance for their inclusion in preventive programs. Therefore, the thesis aims to testing genes that can cause a breast cancer. In the thesis, 219 known and candidate predisposition genes were analyzed in a group of 263 non-selected breast cancer patients using a targeted panel NGS, the Illumina platform. Selected identified suspect variants were further confirmed by Sanger sequencing. The aim of this work was also a mutational analysis of...
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Principles of the next gen sequencing and its application for studies of human malignant diseases
Chmelařová, Žaneta ; Kleiblová, Petra (advisor) ; Koudelková, Lenka (referee)
Modern technologies, including the next-gen sequencing (NGS), increase the speed for genetic data acquisition in analyses of the genetic susceptibility to various human pathologies. This, for example, entirely changes the field of tumor biology research and treatment because malignant tumor could be also considered as a genetic disease. This work aims to describe development of the DNA sequencing techniques with a focus on NGS. We summarize the basic scientific achievements stimulating the NGS development and its chemical, physical, and biological principles. Further, we overview the main steps in sequencing data acquisition and analysis, and principles used by the software tools that are required for the prediction of functional importance in identified genetic variants. The importance of NGS for current oncogenetics is illustrated using selected examples, including characterization of somatic genetic changes in sporadic tumors and identification of germinal pathogenic variants in case of hereditary cancer syndromes, that demonstrate the rapid implementation of NGS technologies into the clinical practice. Key words: DNA, PCR, next-gen sequencing, 3rd generation sequencing, gene mapping, gene annotation, hereditary tumors, cancer
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