Sökning: "Hereditary nonpolyposis colorectal cancer"

Visar resultat 1 - 5 av 13 avhandlingar innehållade orden Hereditary nonpolyposis colorectal cancer.

  1. 1. Hereditary Nonpolyposis Colorectal Cancer - Molecular Genetics and Biology of Associated Tumors

    Författare :Maria Planck; Bröstcancer-genetik; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; endometrial cancer; rectal cancer; colon cancer; mismatch repair protein expression; coding repeats; microsatellite instability; MSH6; MSH2; Hereditary nonpolyposis colorectal cancer; MLH1; small bowel cancer; Cytology; oncology; cancerology; Cytologi; onkologi; cancer;

    Sammanfattning : This thesis focuses on one of the most common types of hereditary cancer, hereditary nonpolyposis colorectal cancer (HNPCC). This syndrome is characterized by an autosomal dominant inheritance, an increased risk for several types of cancer (especially cancer of the colorectum, small bowel, endometrium, ovary and urinary tract), early age at diagnosis, and frequent development of multiple primary malignancies. LÄS MER

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

    Författare :Kajsa Ericson Lindquist; Bröstcancer-genetik; []
    Nyckelord :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;

    Sammanfattning : 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. LÄS MER

  4. 3. Genomic Profiling, Mutations and Deranged Signaling in Esophageal Cancer and Hereditary Colorectal Cancer

    Författare :Anna Isinger Ekstrand; Institutionen för immunteknologi; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Esophageal cancer; hereditary cancer; HNPCC; copy number analysis; CGH; gene expression; Wnt; PIK3CA; CHEK2; gastric cancer; colorectal cancer;

    Sammanfattning : Esophageal cancer and colorectal cancer represents two major types of gastrointestinal tumors. Though refined surgery and introduction of novel chemotherapeutics have improved outcome, more than 2500 Swedes die from these diseases every year. Novel markers for early diagnosis, prognosis and treatment prediction are therefore needed. LÄS MER

  5. 4. Rectal Cancer - Tumor Biology and Prognostic Markers

    Författare :Eva Fernebro; Bröstcancer-genetik; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; prognostic markers; Cytology; oncology; cancerology; Cytologi; onkologi; cancer; immunohistochemistry IHC ; chromosomal instability CIN ; microsatellite instability MSI ; tissue microarray TMA ; tissue inhibitor of metalloproteinase 1 TIMP-1 ; Rectal cancer; soluble urokinase plasminogen activator receptor suPAR ;

    Sammanfattning : Colorectal cancer is one of our most common malignancies and the second leading cause of cancer death worldwide. About 1/3 of the tumors are located in the rectum. LÄS MER

  7. 5. 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