Sökning: "mismatch repair genes"

Visar resultat 6 - 10 av 24 avhandlingar innehållade orden mismatch repair genes.

1. 6. 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. 7. Identification of tumor suppressor genes using the approach of gene inactivation test

   Författare :Fuli Wang; Karolinska Institutet; Karolinska Institutet; []
   Nyckelord :;

   Sammanfattning : Epithelial cancers are the most prevalent and lethal diseases in the world. They cause more than 80% of all cancer deaths. Development of these tumors is a complex process involving more than 100 genes from different chromosomes. We know that human chromosome 3 (chr. LÄS MER

4. 8. DNA methylation in the placenta and in cancerwith special reference to folate transporting genes

   Författare :Sanja Farkas; Torbjörn Nilsson; Lars Breimer; Warren D. Kruger; Örebro universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; DNA methylation; CRC; placenta; cervix; leukocytes; T-DMRs; folate; array; expression; Biomedicin; Biomedicine;

   Sammanfattning : DNA methylation is an epigenetic mechanism that regulates the gene transcription. Folate is used in cellular synthesis of methyl groups, nucleic acids and amino acids. In complex diseases like cancer and neural tube defects (NTD), various genetic and epigenetic alterations can be found that disrupt the normal cell function. LÄS MER

5. 9. NotI genome scanning to identify unknown cancer associated genes in major human epithelial malignancies

   Författare :Klas Haraldson; Karolinska Institutet; Karolinska Institutet; []
   Nyckelord :;

   Sammanfattning : Epithelial cancers cause many deaths every year. Changes in the genes of human chromosome 3 are particularly common in epithelial cancers in several organs. Alterations in DNA methylation is one of the best known epigenetic changes in cancer. LÄS MER

7. 10. HPRT mutational spectra and microsatellite DNA instability in HNPCC and lung cancer patients

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

   Sammanfattning : 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. LÄS MER