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Use of molecular-genetic methods for research of colorectal carcinoma
Janáková, Tereza ; Škutková, Helena (referee) ; Provazník, Ivo (advisor)
The aim of this bachelor work is to carry out statistical analysis of mutations in KRAS, BRAF and PIK3CA genes. Introductory part is focused on colorectal carcinoma in general. In following part of the work, we discuss genetics of tumors, description of KRAS, BRAF and PIK3CA genes, molecular-genetic analytical methods, widely used in genetics, especially PCR. Further detection of mutations is described. In the next part of the work, we propose a method for detection of mutations in KRAS, BRAF and PIK3CA genes, which consist in using PCR and commercial kits. The following chapter "Results of Analysis of mutations" contains detailed grafical presentation of mutations. Frequencies of mutations were compared with published data and with data from laboratories in Pilsen and Prague. In the end of the bachalor work, there is summary of results and their possible benefit.
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Molecular biological analysis of pheochromocytoma and paraganglioma.
Musil, Zdeněk ; Hirschfeldová, Kateřina (advisor) ; Zamrazilová, Hana (referee) ; Uhrová Mészárosová, Anna (referee)
This work summarizes the results of a research inquiring into relatively rare neuroendocrine tumors - pheochromocytomas and paragangliomas (PHEO/PGL) These tumors may arise on a hereditary genetic predisposition basis. On that account we primarily focused on a genetic examination of patients with PHEO/PGL. Methods for diagnostics of changes in SDHD, SDHB and RET genes were implemented. The number of examined genes has been (and is still being) extended. Currently we are investigating these genes: ATRX, BRAF, CDH1, CDKN2A, CDKN2B, FGFR1, FH, FHIT, GNAS, HIF2A (EPAS1), H-RAS, IDH1, IDH2, KIF1Bß, KMT2D, K-RAS, MAML3, MAX, MDH2, MET, NF1, NGFR, N-RAS, PHD2/EGLN1, RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, TERT, TMEM 127, TP53 and VHL, using next generation sequencing. The number of variations of the above mentioned genes is different (23%) in Czech patients with PHEO/PGL in comparison with some foreign studies (27%, 40%). This may be caused by geographical influences or selection of patients. PHEO/PGL occur mainly (75%) in a benign form. A malignant form may be indicated by the presence of chromaffin tissue in locations where these tumors do not usually occur - liver, lungs, bones. In our study we focused on characteristics indicating the malignancy, for example, the lower age of patients with the first manifestation...
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Use of molecular-genetic methods for research of colorectal carcinoma
Janáková, Tereza ; Škutková, Helena (referee) ; Provazník, Ivo (advisor)
The aim of this bachelor work is to carry out statistical analysis of mutations in KRAS, BRAF and PIK3CA genes. Introductory part is focused on colorectal carcinoma in general. In following part of the work, we discuss genetics of tumors, description of KRAS, BRAF and PIK3CA genes, molecular-genetic analytical methods, widely used in genetics, especially PCR. Further detection of mutations is described. In the next part of the work, we propose a method for detection of mutations in KRAS, BRAF and PIK3CA genes, which consist in using PCR and commercial kits. The following chapter "Results of Analysis of mutations" contains detailed grafical presentation of mutations. Frequencies of mutations were compared with published data and with data from laboratories in Pilsen and Prague. In the end of the bachalor work, there is summary of results and their possible benefit.
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