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Gene sequencing in patients with cancer anamnesis
MARKOVÁ, Iveta
Cancer is the second most common cause of death in the Czech Republic, of which 5-10% are occupied by hereditary cancer syndromes. They are caused by a congenital - hereditary mutation in one of the alleles of the genes, when after the second random intervention in the other allele hereditary cancer develops. It is important to distinguish between hereditary and sporadic carcinomas due to the high risk of inheritance of mutated alleles in the family. The indication may be, for example, the onset of the disease at a young age or the recurrence of the cancer in the family In my work I focused on the analysis and evaluation of data obtained by Sanger sequencing. The aim was to find mutations in the genes mentioned below and to evaluate their pathogenicity by comparison with databases. In the theoretical part of the bachelor thesis I deal with cancer in general and hereditary cancer. I specify the hereditary breast and ovarian cancer syndrome, including genes, that may cause this syndrome - BRCA1, BRCA2, TP53, PTEN, ATM, PALB2, I also deal with Lynch syndrome and the MMR gene system. Last but not least, I describe a familial adenomatous polyposis associated with the APC gene. In the research part I focused on the examination of selected areas of 18 anonymized samples in the gene PALB2 - exon 13 and in the gene BRCA2 - exon 10/4 and exon 11/12. Using the PCR method, I prepared the samples for Sanger sequencing, which then took place in GenSeq s.r.o. In the last part of my work I deal with the analysis and evaluation of the results using the BioEdit program and the NCBI database. I found a mutation in 5 samples - in 4 it was a deletion of one nucleotide with a conflicting interpretation of pathogenicity, the last mutation was pathogenic - causes hereditary breast and ovarian cancer syndrome, it was a nucleotide duplication.
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Case study of physiotherapeutic treatment of a patient after proctocolectomy with temporary ileostomy.
Kulhavá, Klára ; Sohrová, Jana (advisor) ; Nováková, Tereza (referee)
Author: Klára Kulhavá Title: Case study of physiotherapeutic treatment of a patient after proctocolectomy with temporary ileostomy. Objectives: The aim of this bachelor thesis is a detailed elaboration of a case study of physiotherapeutic treatment of a patient after proctocolectomy with temporary ileostomy and summary of theoretical knowledge related to this diagnosis, its causes, consequences and rehabilitation treatment options. This thesis was created within a continuous professional practice at the Institute of Clinical and Experimental of Medicine in Prague at the KARIP Resuscitation Department in the period 14/01/2022 - 04/02/2022. Methods: The main division of this work is a theoretical part and a special part. The theoretical part will contain brief anatomical and physiological information on the small and large intestine. Next, I will briefly mention the types of intestinal polyposes and focus in detail on familial adenomatous polyposis. In the special part, there will be processed a case study of a physiotherapeutic treatment of the patient after proctocolectomy with temporary ileostomy together with records of individual therapies. The case study was prepared on the basis of a continuous professional practice at the Institute of Clinical and Experimental Medicine on 14/01/2022 -...
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Re-analysis of suspected patients with FAP disease (Familial adenomatous polyposis)
Slavíková, Petra ; Urbanová, Markéta (advisor) ; Václavíková, Radka (referee)
Familial adenomatous polyposis (FAP) is a condition caused by germline mutations in tumor suppressor gene APC, inherited in autosomal dominant manner. Patients with FAP develop hundreds to thousands of adenomatous colorectal polyps with extremely high risk of malignant reversal into adenocarcinoma of colon and/or rectum. The aim of this thesis is to re-analyze a cohort of highly suspected FAP probands from years 1993-2004 whose diagnosis previously failed to be confirmed by at that time commonly used methods of molecular diagnostics. Next generation sequencing on MiSeq and NextSeq platforms (Illumina®) was performed on 78 samples of probands' DNA, isolated from peripheral blood, using gene panel CZECANCA version 1.2 (Czech Cancer Panel for Clinical Application). The panel enables sequencing of exons and exon-intron junctions of 226 genes linked to hereditary cancer predispositions, newly also including the diagnostically important promoter 1B region of APC. Pathogenic variant in the APC gene was detected in 18 % of re-analyzed probands, 11 % of probands carry pathogenic variants in other genes associated with colorectal polyps. Additional 13 % of probands are carriers of a variants of unknown clinical significance. NGS gene panel CZECANCA enabled diagnosis confirmation or re-evaluation of 22 FAP...
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Dědičné nádorové systémy u člověka
ŘÍHOVÁ, Lenka
The subject of this thesis is an overview of cancer syndromes in humans. The thesis focuses on some of the major genes that cause a predisposition to cancer. These genes were studied: BRCA1, BRCA2, BLM, ATM, PAL2, RAD51 paralogs, CHEK2, APC, TP53, MSH2, MLH1, Rb1, CDK4, CDKN2A. There are also presented some major representatives of hereditary cancer syndromes with a focus on the symptoms and long-term monitoring of the disease. These diseases were described: Ataxia-telangiectasia, Bloom syndrome, Li-Fraumeni syndrome, familial adenomatous polyposis and Hereditary breast and ovarian cancer. The thesis also deals with methods of detection of mutations within genetic diagnosis, in which especially New generation sequencing plays an important role.
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