Search for dissertations about: "DNA copy number aberrations"

Showing result 1 - 5 of 31 swedish dissertations containing the words DNA copy number aberrations.

2. 1. Integrative genomic and survival analysis of breast tumors

   Author : Szilard Nemes; Göteborgs universitet; []
   Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; biostatistics; cancer; survival analysis; gemonics; DNA copy number aberrations; messenger RNA;

   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

4. 2. Development and Application of Human Chromosome 22 Genomic Microarray : Chromosome 22-Associated Disorders Analyzed by Array-Based Comparative Genomic Hybridization

   Author : Magdalena Benetkiewicz; Jan Dumanski; Niklas Dahl; Frank Speleman; Uppsala universitet; []
   Keywords : NATURVETENSKAP; NATURAL SCIENCES; Molecular genetics; DNA copy number changes; chromosome 22; genomic microarray; array-CGH; schwannoma; neurofibromatosis type 2; ovarian carcinoma; breast cancer; Wilms tumor; Genetik; Genetics; Genetik;

   Abstract : The array-based form of comparative genomic hybridization (array-CGH) is a new methodology that has shown to be of significant importance. This thesis focuses on the development of array-CGH with the aim to define candidate regions/genes on chromosome 22 in a wide spectrum of cancer-related conditions. READ MORE

5. 3. Molecular Analysis of Breast Cancer Transcriptomes, Genomes, and Circulating Tumor DNA

   Author : Eleonor Olsson; Bröstcancer-genetik; []
   Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; cancer stem cells; RNA splicing; breast cancer; mutations; circulating tumor DNA; early detection of recurrent breast cancer; sequencing;

   Abstract : Breast cancer is a very heterogeneous disease in terms of clinical characteristics, genetic aberrations and prognosis. In Paper I, we focused on the CD44 molecule that often is aberrantly expressed in breast cancer and is widely used as a marker for cancer stem cells. READ MORE

6. 4. Breast cancer : Multifocality, heterogeneity, and related genetic signatures

   Author : Gyula Pekar; Dumanski Jan; Sapino Anna; Uppsala universitet; []
   Keywords : breast; breast cancer multifocality; molecular phenotypes; intertumoral heterogeneity; biobanking; gene copy number aberrations;

   Abstract : Breast carcinoma often exhibits a complex subgross morphology and may occupy a large volume of the breast tissue and show unifocal, multifocal or diffuse growth patterns. Expression of estrogen- and progesterone receptors, HER2 overexpression, tumor grade, and proliferative activity allows us to classify breast carcinoma into molecular subgroups (Luminal A, Luminal B, HER2-type, triple negative, and basal-like). READ MORE

7. 5. Development and Application of Microarray-Based Comparative Genomic Hybridization : Analysis of Neurofibromatosis Type-2, Schwannomatosis and Related Tumors

   Author : Patrick Buckley; Jan Dumanski; Olivier Delattre; Uppsala universitet; []
   Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; Genomic microarray; Array-CGH; DNA copy number variation; Neurofibromatosis type-2; Schwannomatosis; Schwannoma; Meningioma; NF2; Chromosome 22; Genetik; Clinical genetics; Klinisk genetik;

   Abstract : Neurofibromatosis type-2 (NF2) is an autosomal dominant disorder with the clinical hallmark of bilateral eighth cranial nerve schwannomas. However, the diagnostic criterion is complicated by the presence of a variable phenotype, with the severe form presenting with additional tumors such as peripheral schwannoma, meningioma and ependymoma. READ MORE