Search for dissertations about: "Copy number changes"

Showing result 1 - 5 of 55 swedish dissertations containing the words Copy number changes.

  1. 1. Analysis of chromosomal rearrangements and gene copy number changes in breast cancer cells

    Author : Pär Lundin; Karolinska Institutet; Karolinska Institutet; []
    Keywords : MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP;

    Abstract : Genome changes in terms of numerical chromosomal aberrations and structural rearrangements, including deletions, amplifications and translocations, gradually accumulate in the genome during tumor development. These genomic changes are likely to play an important role in the process of tumor progression. READ MORE

  2. 2. Computational exploration of cancer genomes

    Author : Joakim Karlsson; Göteborgs universitet; Göteborgs universitet; Gothenburg University; []
    Keywords : NATURVETENSKAP; MEDICIN OCH HÄLSOVETENSKAP; NATURAL SCIENCES; MEDICAL AND HEALTH SCIENCES; Cancer genomics; Transcriptomics; Driver genes; Copy number changes; Immunogenomics; Cancer of unknown primary; Uveal melanoma;

    Abstract : Cancer evolves due to changes in DNA that give a cell an advantage at the expense of the remaining organism. These alterations range from individual base substitutions to broad losses or duplications of chromosomal material. READ MORE

  3. 3. Post-zygotic Genetic Variation in Health and Disease

    Author : Hamid Reza Razzaghian; Jan P. Dumanski; David Gisselsson Nord; Uppsala universitet; []
    Keywords : MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Post-zygotic genetic variation; monozygotic twins; copy number variation; single nucleotide polymorphism; variable number tandem repeat; Medical Genetics; Medicinsk genetik;

    Abstract : Post-zygotic genetic variation has previously been shown in healthy individuals and linked to various disorders. The definition of post-zygotic or somatic variation is the existence of genetically distinct populations of cells in a subject derived from a single zygote. READ MORE

  4. 4. 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 : NATURAL SCIENCES; NATURVETENSKAP; 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. 5. Studies of gene fusions and copy number alterations in salivary and adnexal neoplasms

    Author : Marta Persson; Göteborgs universitet; Göteborgs universitet; Gothenburg University; []
    Keywords : cancer genetics; fusion oncogenes; chromosome translocation; MYB; NFIB; CRTC1; MAML2; salivary gland; breast; adenoid cystic carcinoma; mucoepidermoid carcinoma; hidradenoma;

    Abstract : Cancer is a genetic disease caused by the accumulation of genetic changes such as mutations and chromosomal rearrangements. An increasing number of genetic studies of both hematological and solid neoplasms have shown that recurrent chromosome translocations often result in fusion oncogenes. READ MORE