Sökning: "Msh2"

Visar resultat 1 - 5 av 13 avhandlingar innehållade ordet Msh2.

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. 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

4. 3. 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

5. 4. DNA precursor asymmetries, Mismatch Repair and their effect on mutation specificity

   Författare :Robert Buckland; Andrei Chabes; Juan Méndez; Umeå universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; DNA Replication Fidelity; Mutations; dNTP pools; Mismatch Repair; Checkpoint; Ribonucleotide Reductase; Msh2; medicinsk biokemi; Medical Biochemistry; molekylärbiologi; Molecular Biology;

   Sammanfattning : In order to build any structure, a good supply of materials, accurate workers and quality control are needed. This is even the case when constructing DNA, the so-called “Code of Life.” For a species to continue to exist, this DNA code must be copied with incredibly high accuracy when each and every cell replicates. LÄS MER

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

   Författare :Patrick Joost; Bröstcancer-genetik; []
   Nyckelord :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;

   Sammanfattning : 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). LÄS MER