Search for dissertations about: "microsatellite instability"

Showing result 6 - 10 of 32 swedish dissertations containing the words microsatellite instability.

  1. 6. Molecular Genetic Alterations In Endometrial And Ovarian Cancers

    Author : Anjila Koul; Bröstcancer-genetik; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; KRAS; PTEN; TP53; Overexpression; Mutation; Microsatellite instability; Complex atypical hyperplasia; Endometrial cancer; Ovarian cancer; cancer; onkologi; Cytologi; cancerology; oncology; Cytology; CNS metastasis; Cytogenetic analysis; BRCA2; BRCA1; B-catenin; CDKN2A;

    Abstract : Endometrial cancer is the most common gynecological cancer diagnosed in western countries. Complex atypical hyperplasia (CAH) reflects a state of hyperestrinism and its role as a precursor lesion of this cancer is established. READ MORE

  2. 7. Tumors associated with Hereditary Nonpolyposis Colorectal Cancer: Defective Mismatch Repair and Familial Risk of Cancer

    Author : Kajsa Ericson Lindquist; Bröstcancer-genetik; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; oncology; cancerology; Cytologi; onkologi; cancer; Multiple Tumors; Hereditary Nonpolyposis Colorectal Cancer; Cytology; Cohort study; Population based; Familial Risk of Cancer; Immunohistochemistry; MSH2; MSH6; MLH1; Microsatellite Instability; Soft Tissue Sarcomas; Cancer of the Upper Urinary Tract; Cancer of the Small Intestine; Colorectal Cancer;

    Abstract : Inactivation of the DNA mismatch repair (MMR) system is a tumorigenic mechanism involved in 15-20% of tumor types such as colorectal and endometrial cancer and is specifically associated with the Hereditary Nonpolyposis Colorectal Cancer (HNPCC) syndrome. These MMR defective tumors are characterized by microsatellite instability (MSI), a phenomenon that reflects alterations in length of repeated sequences, and 90% of MSI tumors show loss of immunohistochemical expression for the MMR protein affected. READ MORE

  3. 8. Mismatch Repair Deficient Cancer Diagnostic Aspects in Colorectal Cancer and the Role of Urological Cancer in Lynch Syndrome

    Author : Patrick Joost; Bröstcancer-genetik; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Mismatch repair; Lynch syndrome; immunohistochemistry; microsatellite instability; heterogeneity; cumulative incidence; colorectal cancer; urothelial cancer; prostate cancer; renal cell cancer;

    Abstract : Mismatch repair (MMR) deficiency is carcinogenic and can either have somatic/sporadic causes (i.e. epigenetic silencing or somatic inactivation) or hereditary causes (Lynch syndrome due to a germline mutation in one of the MMR genes ¬- MLH1, MSH2, MSH6, PMS2). READ MORE

  4. 9. HPRT mutational spectra and microsatellite DNA instability in HNPCC and lung cancer patients

    Author : Peter Hackman; Karolinska Institutet; Karolinska Institutet; []
    Keywords : Somatic gene mutation; mutational spectra; HPRT gene; lung cancer; smoking; hMLH1 gene; HNPCC; microsatellite instability; mismatch repair; T-cells;

    Abstract : The, general aims of this work have been to explore the use of microsatellite DNA length variation and mutational spectra of the hypoxanthine guanine phosphoribosyltransferase (HPRT) locus in T-cells as tools for a better understanding of human somatic mutagenesis in vivo. In particular (a) how inherited mismatch repair (MMR) deficiency may affect the stability of microsatellite DNA and the mutational spectrum at the HPRT locus, and (b) how the mutational spectrum at the HPRT locus is influenced by smoking, and by predisposition to lung cancer among never smokers. READ MORE

  5. 10. The CpG island methylator phenotype in colorectal cancer : studies on risk and prognosis

    Author : Anna Dahlin; Richard Palmqvist; Bethany van Guelpen; Maria Henriksson; Åke Öberg; Xiao-Feng Sun; Umeå universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Colorectal cancer; DNA methylation; folate; microsatellite instability MSI ; prognosis; risk factors; t-lymphocytes; the CpG island methylator phenotype CIMP ; Vitamin B12; Pathology; Patologi; Tumour biology; Tumörbiologi; patologi; Pathology;

    Abstract : Background Colorectal cancer (CRC) is the second most common malignancy in developed countries. The mortality is high, with nearly half of patients dying from the disease. The primary treatment of CRC is surgery, and decisions about additional treatment with chemotherapy are based mainly on tumor stage. READ MORE