Sökning: "copy number aberration"

Visar resultat 6 - 10 av 13 avhandlingar innehållade orden copy number aberration.

  1. 6. Genetic characterization of malignant melanoma and breast cancer

    Författare :Göran B Jönsson; Bröstcancer-genetik; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; oncology; Cytology; microarray; inherited breast cancer; Melanoma; linkage analysis; cancer; Cytologi; cancerology; onkologi;

    Sammanfattning : Malignant melanoma and breast cancer are common malignant diseases characterized by considerable heterogeneity with respect to genetics, histopathology, biology and clinical course. In breast cancer, two major susceptibility genes have been identified, BRCA1 and BRCA2, which account for a significant proportion of high-risk breast cancer families. LÄS MER

  3. 7. Predictive and prognostic biomarkers in oral tongue squamous cell carcinoma

    Författare :Michael Ryott; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : Oral tongue squamous cell carcinoma (OTSCC) is an aggressive disease frequently associated with poor prognosis due to the high risk of regional failure and mortality rates have been practically unchanged in Sweden the last fifty years, despite advancements in both diagnostics and treatment. Today we lack means to assess the biological aggressiveness of each individual tumor which varies largely. LÄS MER

  4. 8. Genomic characterization of ETV6/RUNX1-positive acute lymphoblastic leukemia

    Författare :Henrik Lilljebjörn; Avdelningen för klinisk genetik; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; SNP array; array CGH; ETV6 RUNX1-positive ALL; childhood ALL; exome sequencing;

    Sammanfattning : The t(12;21) translocation generates the ETV6/RUNX1 fusion gene, present in 25% of childhood acute lymphoblastic leukemia. This fusion gene is important for leukemia development but is not sufficient for leukemia to arise. LÄS MER

  5. 9. Comparative network analysis of human cancer: sparse graphical models with modular constraints and sample size correction

    Författare :José Sánchez; Göteborgs universitet; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; Inverse covariance matrix; precision matrix; graphical models; high-dimension; low-sample; networks; sparsity; fused lasso; elastic net; cancer.; fused lasso;

    Sammanfattning : In the study of transcriptional data for different groups (e.g. cancer types) it's reasonable to assume that some dependencies between genes on a transcriptional or genetic variants level are common across groups. Also, that this property is preserved locally, thus defining a modular structure in the model networks. LÄS MER

  7. 10. Molecular Cytogenetics in Sporadic Breast Cancer

    Författare :Karin Rennstam; Bröstcancer-genetik; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; onkologi; oncology; Cytology; Cytologi; cancer; gene expression; gene amplification; tumor development; cDNA microarray; fluorescence in situ hybridization FISH ; breast cancer; comparative genomic hybridization CGH ; cancerology; ERBB2;

    Sammanfattning : In recent time breast cancer has become the most common form of female cancer in the western world. It has been estimated that the lifetime risk of women falling ill from the disease is 10%. The number of patients diagnosed each year has been increasing steadily since the 1970s. LÄS MER