Search for dissertations about: "mutational heterogeneity"

Showing result 1 - 5 of 17 swedish dissertations containing the words mutational heterogeneity.

  2. 1. Genomic mutational heterogeneity in cancer. lmproved models and tools for driver gene detection

    Author : Martin Boström; Göteborgs universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; cancer; genomics; ultraviolet light; mutational heterogeneity;

    Abstract : Cancer is a disease that is strongly related to evolution, as mutations that confer a benefit to individual cells face positive selection and eventually lead to tumorigenesis. As such, the search for genes that drive cancer development entails distinguishing positive selection from other sources of increased mutation rates, which requires detailed knowledge of how normal mutation rates vary across the genome. READ MORE

  4. 2. The Role of Melanocyte Lineage Genes in Melanoma

    Author : Adriana Sanna; Bröstcancer-genetik; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Melanoma; Genetic; Epigenetic; Heterogeneity; MITF; SOX10; CSD;

    Abstract : Malignant melanoma accounts for the highest number of deaths among all skin cancer types, and its incidence has increased dramatically over the past decades. Despite the tremendous therapeutic advances, treatment resistant cells emerge in the vast heterogeneity of melanoma, driving tumor relapse and poor patient outcome. READ MORE

  5. 3. New Insights in Adrenal Tumourigenesis

    Author : Rajani Maharjan; Peyman Björklund; Michaela Luconi; Uppsala universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; cortisol producing adenomas; adrenocortical carcinomas; mutation; heterogeneity; PRKACA; TERT; CTNNB1; Molekylär genetik; Molecular Genetics;

    Abstract : Unilateral cortisol producing adenoma (CPA) is the most common cause of ACTH-independent Cushing’s syndrome and is surgically curable. On the other hand, adrenocortical carcinomas (ACCs) are rare and aggressive tumours. READ MORE

  6. 4. Genetic Characterization and Identification of Novel Treatment Targets in Anaplastic Thyroid Carcinoma

    Author : Naveen Ravi; Avdelningen för klinisk genetik; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Anaplastic thyroid cancer; copy number alterations; somatic mutations; mutational signatures; DNA methylation analysis; Gene expression analysis;

    Abstract : Anaplastic thyroid cancer (ATC) is a rare and highly aggressive thyroid malignancy, usually resistant to conventional therapeutic strategies. The prognosis of ATC is extremely poor with a median survival rate of 6 months. Current treatment therapy includes surgical resection in combination with external radiotherapy and chemotherapy. READ MORE

  7. 5. Reappraising prognosis in chronic lymphocytic leukemia

    Author : Panagiotis Baliakas; Richard Brandell Rosenquist; Clemens Wendtner; Uppsala universitet; []
    Keywords : CLL; prognosis; Medicinsk genetik; Medical Genetics;

    Abstract : Chronic lymphocytic leukemia (CLL) exhibits remarkable clinical heterogeneity likely reflecting the underlying biological heterogeneity. The genetic landscape of CLL has been recently enriched with mutations within a number of genes proposed as novel prognostic markers. READ MORE