Search for dissertations about: "Multiple diagnosis genetics"

Showing result 1 - 5 of 18 swedish dissertations containing the words Multiple diagnosis genetics.

  1. 1. Somatic Mutations in Breast Cancer Genomes : Discovery and Validation of Breast Cancer Genes

    Author : Xiang Jiao; Tobias Sjöblom; Anne-Lise Børresen-Dale; Uppsala universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; breast cancer; cancer gene; pathway; somatic mutation; structural alteration; sequencing; whole genome amplification; Genetics; Genetik; Medical Genetics; Medicinsk genetik;

    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

  2. 2. Genetic and environmental risk factors of cervical carcinoma in Situ

    Author : Agnetha Josefsson; Uppsala universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; Cervical carcinoma; Human papillomavirus; exonuclease assay; persistence; viral copy number; quantitation; p53; Genetik; Clinical genetics; Klinisk genetik; Medical Genetics; medicinsk genetik;

    Abstract : Invasive cervical cancer is the third most common cancer form among women. In 1990 there were approximately 370,000 new cases diagnosed in the world. The risk of morbidity and mortality of cervical cancer among women is a problem, particularly in the developing countries. READ MORE

  3. 3. Detection of immunoglobulin heavy chain gene rearrangement with PCR for MRD analysis in lymphoproliferative disorders

    Author : Ulf Thunberg; Uppsala universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; Minimal residual disease; Immunoglobulin gene rearrangement; PCR; Leukemia; Lymphoma; Myeloma; Genetik; Clinical genetics; Klinisk genetik; Pathology; patologi;

    Abstract : Immunoglobulin heavy chain (IGH) gene rearrangement occurs during early B-lymphocyte differentiation, assembling the different IGH gene segments to a functional gene, which can serve as a marker for study of lineage association and detection of Minimal Residual Disease (MRD) in clonal diseases deriving from B-lymphocytes or their early differentiation stages. Use of a molecular marker for the leukemic cells could help improve treatment by monitoring therapeutic efficacy, predicting relapse, and identifying very small amounts of tumour cells contaminating autografts after purging or enrichment of stem cells. READ MORE

  4. 4. Clinical and genetic studies of three inherited skeletal disorders

    Author : Eva-Lena Stattin; Göran Roos; Niklas Dahl; Jaakko Ignatius; Umeå universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; skeletal disorders; osteochondritis dissecans; ACAN-gene; multiple epiphyseal dysplasia; brachydactyly type A1; IHH-gene; Medical genetics; Medicinsk genetik; klinisk genetik; Clinical Genetics;

    Abstract : Mutations in genes of importance for cartilage development may lead to skeletal malformations, chondroskeletal dysfunction and increased susceptibility to degenerative joint disease. Characterization of these mutations and identification of molecular pathways for the corresponding gene products have contributed to our understanding of mechanisms regulating skeletal patterning, endochondral ossification and joint formation. READ MORE

  5. 5. Tumour evolution and novel biomarkers in breast cancer

    Author : Jana Biermann; Göteborgs universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; breast cancer; gene signature; molecular biomarkers; tumour clonality; genomic instability; Swedish haemangioma cohort;

    Abstract : Several gene signatures have been proposed in the past two decades to improve outcome prediction for breast cancer patients and to guide treatment decisions. Current treatment guidelines, however, primarily focus on established clinicopathological features. READ MORE