Sökning: "MLH1"
Visar resultat 1 - 5 av 16 avhandlingar innehållade ordet MLH1.
1. Hereditary Nonpolyposis Colorectal Cancer - Molecular Genetics and Biology of Associated Tumors
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
2. Genetic and epidemiological studies of hereditary colorectal cancer
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. Tumors associated with Hereditary Nonpolyposis Colorectal Cancer: Defective Mismatch Repair and Familial Risk of 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. Hereditary Ovarian Cancer mutation frequencies and genetic profiles
Sammanfattning : Ovarian cancer is a leading cause of gynecological cancer death and in Sweden nearly 700 cases are diagnosed annually. Ovarian cancer has one of the highest frequencies of hereditary cancer. LÄS MER
5. Morphological Features and Mismatch Repair in Colorectal Tumors
Sammanfattning : Corlorectal cancer affects 5% of individuals in the Western world and heredity is estimated to cause at least 10% of the tumors. Defective mismatch repair (MMR) is a tumorigenic mechanism through which about 15% of colorectal cancer develops and this feature characterizes tumors associated with Hereditary Nonpolyposis Colorectal Cancer (HNPCC) or Lynch syndrome. LÄS MER