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1	Identifikace dědičných alterací predisponujících ke vzniku karcinomu prsu pomocí "nextgen" sekvenování. / Identification of hereditary alterations predisposing to breast cancer development using "next-gen" sequencing Lhota, Filip January 2018 (has links) Summary: Breast cancer (BC) is the most frequent cancer type in female population of Europe. Approximately 5 - 10 % accounts for its hereditary form which is characterized by high penetrance, early onset, risen recurrence risk and development of other cancers. Mutational analyses of high risk patients identify a predisposing mutation in one of the most studied genes (BRCA1, BRCA2, TP53, ATM, CHEK2, NBS1, PALB2) only in less than one third of tested breast cancer patients. Lately, with the use of new methods of next-generation sequencing, a number of other susceptibility or candidate genes were characterized, but the incidence of their pathogenic alteration is often geographically different. A notable proportion of high risk patients from families with hereditary BC can represent carriers of population-specific, or private mutations. Most of the to date identified BC susceptibility genes codes for proteins involved in DNA repair, especially repair of double strand break DNA repair. Nevertheless the mutation analysis was conducted only on a small fraction of these DNA repair genes. We can expect that in the group of yet nontested genes coding for DNA repair proteins a rare, but clinically important genetic alterations predisposing to BC in affected families can be discovered. This work describes a...
2	Identifizierung genetischer Biomarker für die Wirksamkeit von Oxaliplatin:Kandidatengen-bezogene und Genom-weite Analysen / Identification of genetic biomarkers for the efficacy of oxaliplatin - candidate gene and genome-wide approaches Saman, Sadik 02 December 2014 (has links) No description available. 610 Oxaliplatin Kolorektales Karzinom Cisplatin Carboplatin rs11793978 rs74382821 micro-RNA hsa-miR-1277-3p individualisierte Therpaie Genom-weite Analyse ERCC1 ERCC2 ERCC5 Zytotoxizität CFSE Vybrant Ruby Sytox Zellproliferation Zellvitalität Proliferationshemmung DACH-Ligand SLC31A1 LCL lymphoblastoide Zelllinien 1000 human genomes HapMap Intron 1 SLC31A1 lymphoblastoid cell lines ERCC1 SLC31A1 rs74382821 rs11793978 genome-wide HapMap 1000 human genomes cisplatin carboplatin micro-RNA hsa-miR-1277-3p colorectal carcinoma ATP7A ATP7B Oxaliplatin cytotoxocity cell vitality cell proliferation Sytox Vybrant Ruby CFSE counting beads LCL Intron 1 SLC31A1 Medizin (PPN619874732)

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Identifikace dědičných alterací predisponujících ke vzniku karcinomu prsu pomocí "nextgen" sekvenování. / Identification of hereditary alterations predisposing to breast cancer development using "next-gen" sequencing

Identifizierung genetischer Biomarker für die Wirksamkeit von Oxaliplatin:Kandidatengen-bezogene und Genom-weite Analysen / Identification of genetic biomarkers for the efficacy of oxaliplatin - candidate gene and genome-wide approaches