Search for dissertations about: "copy number aberrations"
Showing result 1 - 5 of 44 swedish dissertations containing the words copy number aberrations.
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1. Array based genetic profiling of chronic lymphocytic leukemia
Abstract : Although no common genetic defect has been described in chronic lymphocytic leukemia (CLL), recurrent genomic aberrations (i.e. deletions of chromosome 11q, 13q, 17p and trisomy 12) are important for prognostication. Deletion of 13q as single aberration is associated with the best prognosis, whereas del(11q) and del(17p) predict a poor outcome. READ MORE
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2. Functional and Molecular Characterization of BRCA1 and BRCA2 Associated Breast Cancer
Abstract : This doctoral dissertation is based on five appended papers primarily concerned with three main topics, namely: the functional characterization of specific and clinically relevant perturbations found in BRCA1 ? one of the major breast cancer susceptibility genes; the use of microarray technologies for molecular characterization of hereditary breast tumor samples from a genomic perspective; and finally, the development of software to address some of the logistical problems of data analysis and management that arise when utilizing microarrays. Results obtained from the work presented herein demonstrate the following: that transcription az says can aid in the characterization of C-terminal missense mutations but that it may not be possible to unambiguously characterize variants with a yeast-based assay alone; that a naturally occurring C-terminal germline mutation in BRCA1 encodes a protein with apparent temperature-dependant functional properties; that open-source software can provide comprehensive solutions to meet data management needs of microarray experimenters; that BRCA1 and BRCA2 associated breast tumors exhibit markedly different copy number aberrations when compared to each other as well as to sporadic tumors; and that gene expression profiling in BRCA1 and BRCA2 associated breast tumors reveals specific gene expression patterns. READ MORE
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3. Post-zygotic Genetic Variation in Health and Disease
Abstract : Post-zygotic genetic variation has previously been shown in healthy individuals and linked to various disorders. The definition of post-zygotic or somatic variation is the existence of genetically distinct populations of cells in a subject derived from a single zygote. READ MORE
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4. Integrative genomic and survival analysis of breast tumors
Abstract : With the continued accumulation of genomic data at ever increasing resolution the challenge ahead lies in reading out meaningful clinical/biological information form the data that can contribute to a better understanding of the cancerous process. The need for novel approaches, new statistical methods is therefore strong. READ MORE
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5. Analysis of chromosomal rearrangements and gene copy number changes in breast cancer cells
Abstract : Genome changes in terms of numerical chromosomal aberrations and structural rearrangements, including deletions, amplifications and translocations, gradually accumulate in the genome during tumor development. These genomic changes are likely to play an important role in the process of tumor progression. READ MORE