Search for dissertations about: "copy number aberration"

Showing result 1 - 5 of 13 swedish dissertations containing the words copy number aberration.

  2. 1. Array based genetic profiling of chronic lymphocytic leukemia

    Author : Rebeqa Gunnarsson; Stamcellscentrum (SCC); []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; prognostic markers; copy-number neutral loss of heterozygosity; copy-number aberrations; chronic lymphocytic leukemia; genomic microarrays; clonal evolution; stereotyped B-cell receptors;

    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

  4. 2. Molecular Characterisation and Prognostic Biomarker Discovery in Human Non-Small Cell Lung Cancer

    Author : Karolina Edlund; Patrick Micke; Martin Schuler; Uppsala universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; non-small cell lung cancer; biomarker; prognosis; microarray; copy number aberration; Medical Science; Medicinsk vetenskap;

    Abstract : Non-small cell lung cancer (NSCLC) constitutes a clinically, histologically, and genetically heterogeneous disease entity that represents a major cause of cancer-related death. Early-stage patients, who undergo surgery with curative intent, experience high recurrence rates and the effect of adjuvant treatment is modest. READ MORE

  5. 3. Genetic and Epigenetic Profiling of Mantle Cell Lymphoma and Chronic Lymphocytic Leukemia

    Author : Anna Margrét Halldórsdóttir; Richard Rosenquist; Reiner Siebert; Uppsala universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; mantle cell lymphoma; chronic lymphocytic leukemia; copy number aberration; proliferation signature; TP53; SNP array; methylation array; Haematology; Hematologi; Clinical genetics; Klinisk genetik; Molecular biology; Molekylärbiologi; Tumour biology; Tumörbiologi; Medicinsk genetik; Medical Genetics; Oncology; Onkologi; Molekylär medicin; Molecular Medicine; Patologi; Pathology;

    Abstract : Mantle cell lymphoma (MCL) and chronic lymphocytic leukemia (CLL) both belong to the group of mature B-cell malignancies. However, MCL is typically clinically aggressive while the clinical course of CLL varies. 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. Analysis of Genetic Alterations in Patients Affected with Neurofibromatosis Type 2 and its Associated Tumors

    Author : Caisa Marie Hansson; Jan P. Dumanski; Juha Kere; Uppsala universitet; []
    Keywords : NATURVETENSKAP; NATURAL SCIENCES; Molecular biology; Neurofibromatosis type 2; schwannoma; schwannomatosis; meningioma; array-CGH; chromosome 22; DNA copy number variation; methylation; Molekylärbiologi; Molecular biology; Molekylärbiologi;

    Abstract : Neurofibromatosis type 2 (NF2) is an autosomal dominant disorder with the clinical hallmark of bilateral vestibular schwannomas (VS). Patients affected by a severe NF2 phenotype also presents with peripheral schwannomas, meningiomas and ependymomas. The closely related disorder schwannomatosis also displays multiple schwannomas, but never VS. READ MORE