Search for dissertations about: "thesis for breast cancer mutation"
Showing result 1 - 5 of 58 swedish dissertations containing the words thesis for breast cancer mutation.
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1. RNA Sequencing for Molecular Diagnostics in Breast Cancer
Abstract : Breast cancer is the most common type of cancer in women and, in Sweden, is the most deadly second only to lung cancer. While treatment and diagnostic options have improved in the past decades and short- to mid-term survival is good, long-term survival is much poorer. READ MORE
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2. Prostate cancer : epidemiological studies of risk factors
Abstract : In spite of the fact that prostate cancer is the most common male cancer in both Sweden and many other countries in the developed world, little is known of risk factors and predisposing conditions. The only well recognized risk factors are age, race and familial aggregation. READ MORE
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3. 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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4. On the genetics of hereditary breast/ovarian cancer. BRCA1, BRCA2 and beyond
Abstract : Breast cancer is the most common malignancy in women. Most of the breast cancers are sporadic with no apparent inheritance factor but about 5-10% is believed to be caused by an inherited predisposition. Aims: This thesis aimed at defining the BRCA1/2 mutation spectrum of the west Swedish population and specifically to characterize the BRCA1c. READ MORE
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5. Somatic Mutations in Breast Cancer Genomes : Discovery and Validation of Breast Cancer Genes
Abstract : Breast cancer is the most common cancer in women worldwide. However, the genetic alterations that lead to breast cancer are not fully understood. This thesis aims to identify novel genes of potential mechanistic, diagnostic or therapeutic interest in breast cancers by mutational analysis and whole-genome sequencing. READ MORE
