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Attitudes and awareness of genetic testing for BRCA genes in women in Czechia
Nejedlová, Pavlína ; Kulhánová, Ivana (advisor) ; Hirsch, Ivan (referee)
The thesis deals with the issue of awareness and attitudes of women towards genetic testing for BRCA genes in Czechia. Genetic testing reveals hereditary predispositions of BRCA1 and BRCA2 gene mutations, which are associated with a high risk of hereditary cancers, especially breast and ovarian cancer. The thesis focuses on the importance of genetic testing, which can help to identify women at high risk of developing these diseases and to inform them sufficiently about appropriate preventive measures or recommendations for early treatment. Awareness and genetic counselling are important factors for individuals and their family members. Genetic mutations in the BRCA1 and BRCA2 genes are estimated to account for 5-10% of all breast and ovarian cancers. In this study, the association between social determinants and awareness of genetic testing is examined to determine whether these determinants are important in women's access to and awareness of testing. The analysis used data from 911 respondents who participated in the Sociological Survey of Citizens of the Czech Republic, a sample survey provided by the INRES agency. The binary logistic regression method was used to analyze the relationship between awareness of BRCA genetic testing and the attitude of women in Czechia towards undergoing such...
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Detection of mutations and intragenic rearrangements in BRCA1 and BRCA2 genes by sequencing and MLPA method
PECHOVÁ, Kristýna
In my bachelor thesis I dealt with the detection of mutations in BRCA genes and their effect on the development of breast cancer. Nowadays, this topic is very important, because breast cancer is the most common cancer among women in the Czech Republic (Weinberger a Zikán, 2016). In the theoretical part I focused on breast cancer, particularly on its diagnosis and consequent treatment. I also dedicated genetic counselling and examination, which is very important for the diagnosis of hereditary forms of cancer. I mentioned basic information about BRCA genes, and their protein products and I summarized the issue of mutations in these genes and their relationship to cancer, particularly breast and ovarian. In the practical part, I focused on the examination of selected areas of BRCA genes by the Sanger sequencing method. At present, BRCA genes are examined by the NGS method, because it allows for the analysis of all exons of one particular gene at once, but this testing wasn't possible to realize in my laboratory conditions, therefore I have chosen the method of Sanger sequencing, which does, however, have certain capacity limitations. By using the PCR method, I prepared samples for testing by Sanger sequencing. This testing was conducted by the firm Genseq s.r.o. In the last part of my thesis I processed the obtained sequences and I evaluated the results. I examined a total of 20 anonymized samples using the sequencing method. Mutation was present in 4 samples of the total amount - one was pathogenic, one benign and two of uncertain significance.
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Different approaches to genetic testing of Leiden mutation
HÁJKOVÁ, Markéta
This thesis is about various approaches to genetical testing of Factor V Leiden. Factor V Leiden is currently one of the mostly occured hereditary causes of thrombosis. It's examination is one of the mostly required among the thrombophilic mutations. Thrombophilic conditions are serious health complications when most oftenly deep venous trombosis occurs, which means formation of blood clot in deep vein system of legs. This condition may cause health complications especialy during gravidity, but it may have serious consequences even for healthy person. If examination for Factor V Leiden is recommended by medical specialist then it is paid from the health insurance otherwise it is payed by person who requests the examination. Purpose of theoretical part of the thesis is to offer information about physiology of hemostasis and to understand mechanism of this system, further is about hereditary of Factor V Leiden and associated hazards and about rules of indication of genetic examination of this disorder. There is also description of risks related with use of hormonal anticonception and formation of thrombophilic conditions. And lastly this thesis concernes about various genetical methods which are useable for detection of factor V Leiden. Practical part consists of procedures of genetical methods and obtained results. Used methods were RFLP-PCR, real-time PCR and reverse hybridization on the stripes. Part of the results is statistical processing of different concentrations of DNA obtained by isolation from peripheral blood or from buccal swab and statistical overview of factor V Leiden identifications throughout the years in laboratories of company GENLABS s.r.o. Carriers of this mutation have increased risk of occurrence of thrombosis which can cause serious health conditions like pulmonary embolism or myocardial infarction. Indivinduals with such mutation can be heterozygotes aswell as homozygotes. Heterozygotes have five to ten times higher chance of mutation occurance then healthy person but homozygotes have this chance eighty to one hundred times higher. In human population factor V Leiden is spread unequally. In white population is estimated occurrence around 15% on the other hand occurrence on humans with African or Asian descent is very rare.
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Lynch syndrome - etiology, diagnostics and therapy
MARŠÍKOVÁ, Dominika
Lynch syndrome (hereditary nonpolyposis colorectal cancer, HNPCC) is an inherited disease with an autosomal dominant pattern of inheritance with high penetrance leading to an early development of colorectal cancer, endometrial cancer and other malignancies. This disease is caused by germline mutations of genes MLH1, MSH2, PMS2, MSH6, MLH3 and TGFBR2. Diagnosis of this disease includes Amsterdam Criteria and genetic testing. Therapy takes place by surgical, chemoprevention and chemical medication. The incidence of Lynch syndrome is relatively high: 1:2000 up to 1:660.
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Ethical issues of the predictive genetic diagnosis
ČAPKOVÁ, Jitka
This bachelor's thesis deals with ethical issues of the predictive genetic diagnosis. The goal of this thesis is to introduce ethical issues of the predictive genetic testing that is developing rapidly, and present possible questionable aspects that our society will have to deal with. This thesis is based on a hypothesis that the predictive testing must take place only within specialized genetic departments, on the basis of observing basic ethical and legal principles, to minimize moral dilemmas and maintain dignity of the human existence. The theoretic part focuses on introducing the issues of genetic testing. This thesis puts emphasis especially on ethical reflection of genetic testing issues such as genetic discrimination, genetic testing of children, and interpretation of the results of predictive genetic testing. Definition of the principle of human dignity as a moral basis of the predictive medicine, and analysis of selected documents, agreements, and programmes relating to human dignity and rights related to the field of genetic testing will be also included.
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