Sökning: "genetic instability"

Visar resultat 11 - 15 av 76 avhandlingar innehållade orden genetic instability.

  1. 11. Genetic and epidemiological studies of hereditary colorectal cancer

    Författare :Kristina Cederquist; Henrik Grönberg; Irina Golovleva; Gösta Holmgren; Mef Nilbert; Umeå universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; Lynch syndrome; HNPCC; colorectal cancer; endometrial cancer; cancer risk; MSI; MLH1; MSH2; MSH6; genome-wide scan; Genetik; Clinical genetics; Klinisk genetik; medicinsk genetik; Medical Genetics;

    Sammanfattning : Lynch syndrome (Hereditary Nonpolyposis Colorectal Cancer, HNPCC) is the most common hereditary syndrome predisposing to colorectal cancer, accounting for 1-3% of all colorectal cancer. This multi-organ cancer predisposition syndrome is caused by mutations in the mismatch repair (MMR) genes, especially MLH1 and MSH2, and to lesser extents MSH6 and PMS2, which lead to widespread genetic instability and thus microsatellite instability (MSI). LÄS MER

  3. 12. Somatic Genetic Variation in Children: from Mosaicism to Cancer

    Författare :Anders Valind; Avdelningen för klinisk genetik; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Somatic Mosaicism; Cancer; Tumor heterogeneity; Neuroblastoma; Wilms Tumor; Rhabdomyosarcoma; Aneuploidy;

    Sammanfattning : This thesis concerns various aspects of somatic mosaicism and genetic intratumor heterogeneity in childhood cancer.In paper I, I show that aneuploidy in itself does not lead to the level of chromosomal instability that is typically seen in malignant cells. This finding strongly argues against the so called autocatalytic theory of carcinogenesis. LÄS MER

  4. 13. Ribonucleotides in DNA - Application in genome-wide DNA polymerase tracking and physiological role in eukaryotes

    Författare :Katrin Kreisel; Göteborgs universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Ribonucleotides; DNA instability; DNA polymerase eta; nuclear DNA; mitochondrial DNA;

    Sammanfattning : The genetic code in the eukaryotic cell is stored in the form of DNA, which is more resistant to hydrolysis than RNA. Replication fidelity and DNA repair mechanisms are in place to ensure genomic integrity to preserve the information encoded. LÄS MER

  5. 14. Significance of molecular genetic alterations and apoptosis in colorectal cancer

    Författare :Sofia Evertsson; Linköpings universitet; []
    Nyckelord :MEDICINE; MEDICIN;

    Sammanfattning : Colorectal cancer is a serious health problem in Western societies. In Sweden it is the second most common malignancy among females, and the third in males, and the third leading cause of cancer related death in both sexes. To date it is known that several biological pathways can lead to colorectal cancer. LÄS MER

  7. 15. Colorectal Cancer : Aspects of Heredity, Prognosis and Tumour Markers

    Författare :Lana Ghanipour; Helgi Birgisson; Lars Påhlman; Karin Jirström; Tom Öresland; Uppsala universitet; []
    Nyckelord :colorectal cancer; heredity; Tryptophanyl t-RNA synthetase; microsatellite instability; SP-PLA; prognosis; biomarkers;

    Sammanfattning : Colorectal cancer (CRC) is one of the most common cancer types and leading causes of cancer death worldwide. Since CRC is a heterogenic disease, there is a demand for increased knowledge of the underlying genetic and epigenetic mechanisms. The aim of this thesis was to investigate heredity and potential tumour markers in relation to prognosis. LÄS MER