Дисертації з теми "Medical genetics (excl. cancer genetics)"
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Peterson, Kristen N. "Investigating the Role of Bptf in Immunoediting in Breast Cancer and Melanoma." VCU Scholars Compass, 2015. http://scholarscompass.vcu.edu/etd/3793.
Повний текст джерелаWhitmore, Scott Anthony. "Positional cloning of genes associated with human disease /." Title page, contents and summary only, 1999. http://web4.library.adelaide.edu.au/theses/09PH/09phw616.pdf.
Повний текст джерелаCopies of author's previously published articles inserted. Amendments pasted onto back-end paper. Bibliography: leaves 255-286.
Davis, Hayley Louise. "Functional analysis of cancer-causing FBXW7 mutations." Thesis, University of Oxford, 2012. http://ora.ox.ac.uk/objects/uuid:9c1b7f72-0733-439f-919a-6c66f7f44bfc.
Повний текст джерелаIvansson, Emma. "Contribution of Immunogenetic Factors in Susceptibility to Cervical Cancer." Doctoral thesis, Uppsala universitet, Institutionen för genetik och patologi, 2009. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-9552.
Повний текст джерелаDursun, Ahmet. "The molecular pathologies of BRCA1 in ovarian cancer patients from the west of Scotland." Thesis, University of Glasgow, 2001. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.368585.
Повний текст джерелаCheng, Timothy. "Genetic susceptibility to endometrial cancer." Thesis, University of Oxford, 2015. http://ora.ox.ac.uk/objects/uuid:3a559ae0-156f-48a2-a64e-b03a13c562df.
Повний текст джерелаQuinn, Bridget A. "Novel Therapeutic Strategies for Pancreatic Cancer." VCU Scholars Compass, 2014. http://scholarscompass.vcu.edu/etd/4671.
Повний текст джерелаÖsterberg, Lovisa. "Characterization of genetic alterations in ovarian cancer associated with chemotherapy response /." Göteborg : Department of Oncology, Institute of Clinical Sciences, The Sahlgrenska Academy at University of Gothenburg, 2009. http://hdl.handle.net/2077/20291.
Повний текст джерелаLI, CHAO. "HEAT SHOCK PROTEINS AS NOVEL CANCER THERAPEUTICS: TARGETING THE HALLMARKS OF CANCER." VCU Scholars Compass, 2011. http://scholarscompass.vcu.edu/etd/2510.
Повний текст джерелаZaro, Maren Lothyan. "Breast Cancer Risk Assessment: Evaluation of Screening Tools for Genetics Referral." BYU ScholarsArchive, 2016. https://scholarsarchive.byu.edu/etd/8824.
Повний текст джерелаAlhareeri, Areej. "Chromosome-Specific Telomere Length in Women with Breast Cancer: Their Relationship to Chemotherapy and Acquired Psychoneurological Symptoms." VCU Scholars Compass, 2013. http://scholarscompass.vcu.edu/etd/475.
Повний текст джерелаJones, Matthew. "MiR-215 regulates differentiation in colorectal cancer stem cells." Thesis, University of Oxford, 2014. http://ora.ox.ac.uk/objects/uuid:5462857b-4cee-44a8-a299-63b798a67f3f.
Повний текст джерелаZeron-Medina, Cuairan Jorge. "The identification and characterisation of germline genetic variants that affect human cancer." Thesis, University of Oxford, 2013. http://ora.ox.ac.uk/objects/uuid:8942602e-c0f8-4793-8020-d2eadd41b252.
Повний текст джерелаRosmarin, Daniel Norris. "Germline determinants of 5-fluorouracil drug toxicity and patient survival in colorectal cancer." Thesis, University of Oxford, 2013. http://ora.ox.ac.uk/objects/uuid:d5e2c306-689c-4c53-b4c3-2c1001b04ec6.
Повний текст джерелаPliuskys, Laurynas. "Epigenetic regulation of the myeloid cell lineage." Thesis, University of Oxford, 2014. http://ora.ox.ac.uk/objects/uuid:f4ee6659-ce0b-4730-ae5b-95c141f82e10.
Повний текст джерелаGlassberg, Andrea E. "Genetic testing for susceptibility to breast and ovarian cancer : a case study of clinical decision-making in medical genetics /." Thesis, Connect to this title online; UW restricted, 1997. http://hdl.handle.net/1773/10308.
Повний текст джерелаDiehl, Malissa. "CHAPERONE EXPRESSION AND EFFECTS OF ITS INHIBITION ON BREAST CANCER SENSITIZATION." VCU Scholars Compass, 2009. http://scholarscompass.vcu.edu/etd/1897.
Повний текст джерелаAlhazmi, Aiman. "Role of Nucleosome Remodeling Factor (NURF) in Tumorigenesis Using a Breast Cancer Mouse Model." VCU Scholars Compass, 2012. http://scholarscompass.vcu.edu/etd/379.
Повний текст джерелаGrawenda, Anna Maria. "The identification and analysis of molecular biomarkers in the p53 tumour suppressor pathway that affect cancer progression in humans." Thesis, University of Oxford, 2013. http://ora.ox.ac.uk/objects/uuid:5a76b7ca-22f6-4f49-b715-5ad43f916984.
Повний текст джерелаNord, Helena. "Application of Genomic and Expression Arrays for Identification of new Cancer Genes." Doctoral thesis, Uppsala universitet, Genomik, 2010. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-121957.
Повний текст джерелаGaynor, Katherine Ursula. "The role of the transcription factor GATA3 in calcium homeostasis and tumourigenesis." Thesis, University of Oxford, 2011. http://ora.ox.ac.uk/objects/uuid:cc1cef5c-896d-438d-8b40-684ceb5804e7.
Повний текст джерелаAlmanza, Deanna J. "Medical Decision Making among Individuals with a Variant of Uncertain Significance in a Hereditary Cancer Gene and those with a CHEK2 Pathogenic Variant." Scholar Commons, 2019. https://scholarcommons.usf.edu/etd/7726.
Повний текст джерелаJensen, Keith Douglas Ostergaard. "Dual Regulation of Telomerase Activity By HSF1 And Its Role in Prostate Cancer Progression." VCU Scholars Compass, 2006. http://hdl.handle.net/10156/1630.
Повний текст джерелаGrochola, Lukasz Filip. "Identification and functional analysis of single nucleotide polymorphisms that affect human cancer." Thesis, University of Oxford, 2011. http://ora.ox.ac.uk/objects/uuid:aacc7084-81a8-4e97-b1ac-024d9bed106e.
Повний текст джерелаHenderson, Melissa. "Patient-physician Dialogue Matters: Factors that Impact Medical Management Decisions among Women with Pathogenic Variants in Moderate-penetrance Genes Associated with Hereditary Breast Cancer." University of Cincinnati / OhioLINK, 2019. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1554213725302437.
Повний текст джерелаAisenberg, Jeremy Charles. "A Critical Review of Telomerase Biology and Model Systems for the Study of Telomerase." VCU Scholars Compass, 2006. http://hdl.handle.net/10156/2120.
Повний текст джерелаMartinsson, Caroline. "Characterisation of EGFR and KRAS mutations in non-small cell lung cancer." Thesis, Uppsala universitet, Institutionen för medicinsk biokemi och mikrobiologi, 2010. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-126041.
Повний текст джерелаZauri, Melania. "Tet2 and relevant potential intervention in cancer." Thesis, University of Oxford, 2014. http://ora.ox.ac.uk/objects/uuid:09208267-5766-47b6-b9f4-5c97a6e6b5a2.
Повний текст джерелаPoynter, Kennon R. "Telomerase Inhibition and Sensitization of Breast Tumor Cells." VCU Scholars Compass, 2007. http://scholarscompass.vcu.edu/etd/774.
Повний текст джерелаSumner, Evan T. "Characterizing the Oncogenic Properties of C-terminal Binding Protein." VCU Scholars Compass, 2016. http://scholarscompass.vcu.edu/etd/4153.
Повний текст джерелаMolloy, Doreen. "Saying ‘No’: A biographical analysis of the experiences of women with a genetic predisposition to developing breast/ovarian cancer who reject risk reducing surgery." Thesis, Edith Cowan University, Research Online, Perth, Western Australia, 2015. https://ro.ecu.edu.au/theses/1713.
Повний текст джерелаOvtcharov, Slav. "Impact of TMPRSS2-ERG fusion gene on prostate cancer cell response to chemotherapy, radiotherapy and androgen deprivation therapy." Thesis, University of Oxford, 2015. http://ora.ox.ac.uk/objects/uuid:f30bf48d-fff5-49e7-8258-107a500c8752.
Повний текст джерелаPfister, Anna. "Outcomes of Myosin 1C Gene Expression Depletion on Cancer-related Pathways, in Vitro and in Clinical Samples." Licentiate thesis, Sahlgrenska Academy at University of Gothenburg, 2016. http://urn.kb.se/resolve?urn=urn:nbn:se:his:diva-12981.
Повний текст джерелаSchödel, Johannes. "Genome-wide mapping of the hypoxic response." Thesis, University of Oxford, 2012. http://ora.ox.ac.uk/objects/uuid:5701c6b5-f397-4b21-a66b-cfc02043fe40.
Повний текст джерелаOpat, Annette. "Exploring the experiences of people who have consented to tumour testing for a hereditary disposition to cancer." Connect to thesis, 2009. http://repository.unimelb.edu.au/10187/6962.
Повний текст джерелаThere is currently no clarity about requirements for consent prior to testing of stored tumour tissue. The person giving consent to tumour testing does not always have an appointment with a genetics service prior to giving consent. This can be contrasted to genetic testing on blood samples where laws and guidelines state that informed consent is required prior to genetic testing and that comprehensive genetic counselling and support should be provided as part of this process. Protocols for genetic testing have been developed as a result of extensive research around the impact and implications of genetic testing.
Consumer opinion and participation through research is an important aspect of health policy and guideline development. Accordingly the purpose of this study was to contribute to such development by gaining insight into the experiences, understandings, decision making processes and opinions of those who had given consent to have their own or their relatives tumour tested. Seventeen people who had given consent for tumour testing either for themselves, or on behalf of a deceased relative were recruited through a Familial Cancer Centre and in-depth interviews conducted. The interviews were transcribed and analysed using thematic analysis.
Some participants had no memory of consenting to tumour testing. Others remembered basic concepts. Negative implications of testing were unknown or viewed as unimportant. Participants did not understand the difference between tumour testing and germline testing. Despite lack of memory or understanding participants did not want additional or more detailed pre-test information although they did want more follow-up and support after receipt of results. The decision to consent to testing was made as soon as participants were informed of the availability of tumour testing - the major reason being to provide information for the family that would aid in cancer prevention. Participants were more concerned with accessibility to testing than pre test information and counselling.
Findings in this study indicated participants made decisions heuristically rather than systematically and this as well as participants’ opinions and other decision-making research has implications for the traditional view of informed consent around genetic related decisions. This in turn has implications for policy and guidelines in the area. Implications for current practise as a result of findings from this study include ensuring participants understand negative implications of testing and follow up and support of those with negative as well as positive results to tumour testing.
Alkhatib, Suehyb. "Characterizing the role of Nucleosome Remodeling Factor (NURF) in tumorigenesis and metastatic progression using mouse models of breast cancer." VCU Scholars Compass, 2012. http://scholarscompass.vcu.edu/etd/376.
Повний текст джерелаBorgström, Annelie. "Analysis of tumour infiltrating leukocytes in colon cancer carcinoma in a syngeneic rat model." Thesis, Linköpings universitet, Institutionen för fysik, kemi och biologi, 2010. http://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-56910.
Повний текст джерелаDeLigio, James T., and James Thomas DeLigio. "ALTERNATIVE SPLICING OF CYTOPLASMIC POLYADENYLATION ELEMENT BINDING PROTEIN 2 IS MODULATED VIA SERINE ARGININE SPLICING FACTOR 3 IN CANCER METASTASIS." VCU Scholars Compass, 2018. https://scholarscompass.vcu.edu/etd/5660.
Повний текст джерелаGonzález, Acosta María Isabel. "Desarrollo de nuevas aproximaciones para el diagnóstico molecular de los síndromes de predisposición hereditaria al cáncer asociados a deficiencia del sistema de reparación de apareamientos erróneos." Doctoral thesis, Universitat de Barcelona, 2019. http://hdl.handle.net/10803/668559.
Повний текст джерелаSmith, Jordan L. "Reversing Cancer Cell Fate: Driving Therapeutic Differentiation of Hepatoblastoma to Functional Hepatocyte-Like Cells." eScholarship@UMMS, 2020. https://escholarship.umassmed.edu/gsbs_diss/1067.
Повний текст джерелаDíaz, Gay Marcos. "Identification of new candidate genes for germline predisposition to familial colorectal cancer using somatic mutational profiling." Doctoral thesis, Universitat de Barcelona, 2019. http://hdl.handle.net/10803/668900.
Повний текст джерелаEl cáncer colorrectal (CCR) es una de las neoplasias con mayor incidencia y mortalidad en España y el mundo. Aunque un 35% de los pacientes presentan agregación familiar, sólo un 2-8% se asocia con un síndrome hereditario conocido, causado por mutaciones germinales en genes como APC, MUTYH, POLE, POLD1 o los genes del sistema de reparación del ADN por mal apareamiento de bases. En los últimos años, las técnicas de secuenciación de nueva generación (SNG), como la secuenciación del exoma completo (SEC), han sido utilizadas para el descubrimiento de nuevos genes implicados en la predisposición al CCR. La caracterización de los perfiles mutacionales somáticos, aplicando SNG al ADN germinal y tumoral, también se ha utilizado recientemente en este proceso. Sin embargo, aunque se han desarrollado algunos paquetes bioinformáticos para su análisis, todavía permanece inaccesible para una gran parte de la comunidad científica. En consecuencia, el objetivo principal de esta tesis doctoral ha sido el de identificar nuevos genes implicados en la predisposición germinal al CCR familiar, utilizando un análisis de SEC germinal-tumoral y caracterización mutacional somática, así como facilitar la aplicación de estos análisis genómicos a la comunidad científica. En primer lugar, se llevó a cabo el desarrollo de una herramienta bioinformática denominada Mutational Signatures in Cancer (MuSiCa), una aplicación web de manejo sencillo y acceso libre desarrollada a través de la plataforma Shiny, que permite el cálculo de la carga mutacional tumoral y la caracterización de las firmas mutacionales según la información disponible en la base de datos COSMIC. Posteriormente, se implementó un análisis integrado de SEC germinal-tumoral en una cohorte de 18 pacientes de CCR familiar, complementado con una caracterización mutacional somática, gracias al desarrollo de MuSiCa. Se detectaron cinco tumores hipermutados, así como un enriquecimiento de mutaciones germinales en genes involucrados previamente en síndromes de predisposición a otros tipos de cáncer y a la reparación del ADN. Los genes BRCA2, BLM, ERCC2, RECQL, REV3L y RIF1 fueron priorizados como los más prometedores de cara a la predisposición al CCR. Estos descubrimientos podrían ser de utilidad en la práctica clínica, mejorando el consejo genético en las familias afectadas.
López-Dóriga, Guerra Adriana. "Anàlisi de dades de seqüenciació de nova generació pel diagnòstic molecular del càncer hereditari i per la recerca de les bases genètiques del càncer colorectal esporàdic." Doctoral thesis, Universitat de Barcelona, 2016. http://hdl.handle.net/10803/401754.
Повний текст джерелаNext Generation Sequencing, NGS, is changing genetic diagnosis and genomic research due to its huge sequencing capacity and cost-effectiveness. In this thesis, NGS has been used for the genetic diagnosis of hereditary cancer and for the research of new recurrent mutations in sporadic colorectal cancer. First paper describes the development of an NGS-based workflow for routine diagnostics for hereditary breast and ovarian cancer syndrome (HBOCS), to improve genetic testing for BRCA1 and BRCA2. The NGS-based workflow is designed using BRCA MASTR kit amplicon libraries followed by GS Junior pyrosequencing and data analysis using freely available software. Second paper presents the development of a free and user-friendly Web data analysis tool for the bioinformatics data analysis. The tool has been developed to provide accurate genetic analysis of targeted sequencing of common high-risk hereditary cancer genes using amplicon libraries run in a GS Junior System. Specifically, the tool detects and filters sequence variants, provides coverage information, and allows the user to customize some basic parameters. Moreover, the Web resource is linked to our own mutation database, to assist in the clinical classification of identified variants. The evolution of genetic diagnosis carries us to the use of multiple gene panels. In a brieve section after the second paper, we evaluate the performance of the commercial Illumina panel “Trusight Cancer Panel” which includes 94 genes and 285 SNPs associated to cancer, to evaluate its effectiveness in the diagnosis routine. Results show a good performance of the Trusight Cancer d’Illumina in the hereditary cancer diagnosis routine. In the third and last paper of the thesis, results of the exome sequencing for 42 colorectal tumors and their normal paired samples are presented. Results reveal tumor-specific mutational landscapes. Nevertheless, these diverse mutations converged into common cellular pathways, such as cell cycle or apoptosis. Among this mutational heterogeneity, variants resulting in early stop codons in the AMER1 (also known as FAM123B or WTX) gene emerge as recurrent mutations in colorectal cancer. In silico and experimental validation in independent datasets confirm the existence of functional mutations in AMER1 in approximately 10% of analyzed colorectal cancer tumors.
Martínez, Fernández Alejandro. "Biomarcadores en cancer colorrectal: Metaloproteinasa 7 en pacientes intervenidos y mutaciones tras progresión a terapias anti-EGFR en enfermedad metastásica." Doctoral thesis, Universitat de Barcelona, 2014. http://hdl.handle.net/10803/291111.
Повний текст джерелаINTRODUCTION: Colorectal cancer is a main health problem. New biomarkers to define prognosis or predict drug effectivity are warranted. The aim of this thesis is define new biomarkers using two different approaches: Evaluation of serum Matrilysine (MMP-7) as a prognostic marker in localized colorectal cancer and determination of the molecular events related with acquired resistance to the anti-EGFR antibody cetuximab in advanced disease. MATHERIAL AND METHODS: We evaluated MMP-7 blood concentration by ELISA in 175 patients before surgery with curative intention. On the other hand, 37 patients with acquired resistance to cetuximab were biopsied in order to analyze KRAS, NRAS, BRAF, PIK3CA and EGFR mutations. We compared these alterations with the mutational profile previous the cetuximab treatment RESULTS: MMP-7 blood concentration is an independent prognostic marker for overall survival and disease- free survival. Combining MMP-7 and nodal status we defined three different prognostic groups. Mutational analysis in tumors after acquired resistance to cetuximab shows that 66% of patients had almost one of the mutations analyzed and 63% of these mutations were not present before the treatment. KRAS and NRAS genes were the most frequently affected. 14% of patients presented mutations at EGFR gene: S492R, K467T and R451C. Biopsies form three patients treated with biological therapies after cetuximab failure were also available, detecting dynamic changes in the mutational profile. Mutations were also detected in 62% of serum circulating DNA. CONCLUSSION: MMP-7 is a potential prognostic biomarker for colorectal cancer and its determination is technically applicable in clinical practice. KRAS and NRAS are the genes most frequently mutated after resistance to cetuximab. We also define two new mutations affecting EGFR (K467T and R451C). Tumor mutational profile is dynamic, and changes after the acquired resistance to each therapy. Blood DNA-sequencing could effective to monitor resistance to cetuximab even before clinical and radiological progression.
Stamatkin, Christopher W. "PHOSPHATIDYLINOSITOL 3-KINASE (PI3K) AS A THERAPEUTIC TARGET IN NSCLC." UKnowledge, 2014. http://uknowledge.uky.edu/pharmacy_etds/58.
Повний текст джерелаMovassagh, Mercedeh J. "Comprehensive Computational Assessment And Evaluation of Epstein Barr virus (EBV) Variations, miRNAs, And EBERs in eBL, AML And Across Cancers." eScholarship@UMMS, 2019. https://escholarship.umassmed.edu/gsbs_diss/1022.
Повний текст джерелаJain, Jayati. "Engineering antibodies to study and improve immunomagnetic isolation of tumour cells." Thesis, University of Oxford, 2013. http://ora.ox.ac.uk/objects/uuid:81355801-b331-4705-bfef-204a29ee0347.
Повний текст джерелаVice, President Research Office of the. "Newswire." Office of the Vice President Research, The University of British Columbia, 2008. http://hdl.handle.net/2429/2661.
Повний текст джерелаWhitmore, Scott Anthony. "Positional cloning of genes associated with human disease." Thesis, 1999. http://hdl.handle.net/2440/19353.
Повний текст джерелаAmendments pasted onto back-end paper.
Bibliography: leaves 255-286.
ix, 286, [15] leaves, [5] leaves of plates : ill. (chiefly col.) ; 30 cm.
Aims to isolate the gene(s) responsible for Fancomi anaemia and breast cancer using a positional cloning strategy
Thesis (Ph.D.)--University of Adelaide, Dept. of Cytogenetics and Molecular Genetics, 1999
O'Doherty, Kieran Christian. "Risk communication in familial cancer : the discursive management of uncertainty in genetic counselling." 2005. http://hdl.handle.net/2440/37766.
Повний текст джерелаThesis (Ph.D.)--Faculty of Health Sciences, Dept. of Psychology, 2005.
Zaka, Masood-Ul-Hassan, Yonghong Peng, and Chris W. Sutton. "Integrated microarray analytics for the discovery of gene signatures for triple-negative breast cancer." 2014. http://hdl.handle.net/10454/10822.
Повний текст джерелаTriple-negative breast cancers (TNBC) are clinically heterogeneous, an aggressive form of breast cancer with poor diagnosis and highly therapeutic resistant. It is urgently needed for identifying novel biomarkers with increased sensitivity and specificity for early detection and personalised therapeutic intervention. Microarray profiling offered significant advances in molecular classification but sample scarcity and cohort heterogeneity remains challenging areas. Here, we investigated diagnostics signatures derived from human triple-negative tissue. We applied REMARK criteria for the selection of relevant studies and compared the signatures gene lists directly as well as assessed their classification performance in predicting diagnosis using leave-one-out cross-validation. The cross-validation results shows excellent classification accuracy ratios using all data sets. A subset signature (17-gene) extracted from the convergence of eligible signatures have also achieved excellent classification accuracy of 89.37% across all data sets. We also applied gene ontology functional enrichment analysis to extract potentially biological process, pathways and network involved in TNBC disease progression. Through functional analysis, we recognized that these independent signatures have displayed commonalities in functional pathways of cell signaling, which play important role in the development and progression of TNBC. We have also identified five unique TNBC pathways genes (SYNCRIP, NFIB, RGS4, UGCG, LOX and NNMT), which could be important for therapeutic interventions as indicated by their close association with known drivers of TNBC and previously published experimental studies.
Yorkshire Cancer Research for the Supplementary ort of CWS (BPP049 and B209PG)