Sökning: "Hereditary colorectal"

Visar resultat 26 - 30 av 30 avhandlingar innehållade orden Hereditary colorectal.

1. 26. Mutation Carriers' Perspectives on Lynch Syndrome; self-concept and lived experiences

   Författare :Helle Vendel Petersen; Bröstcancer-genetik; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; questionaries; lived experinces; anxiety; validity: sense of coherence; self-concept; psychological impact; interviews; phenomenology; Lynch syndrome;

   Sammanfattning : Lynch syndrome is a hereditary cancer syndrome that predisposes to several types of cancer, including colorectal cancer, endometrial cancer and ovarian cancer. Genetic testing for Lynch syndrome has been available since the mid-1990’s, which implies that an increasing number of individuals live with knowledge of a high risk of cancer. LÄS MER

3. 27. Studies on familial adenomatous polyposis

   Författare :Jan Björk; Karolinska Institutet; Karolinska Institutet; []
   Nyckelord :;

   Sammanfattning : Familial adenomatous polyposis (FAP) is a hereditary disorder caused by mutations in the adenomatous polyposis coli (APC) gene, which leads to adenoma formation and subsequently to cancer, predominantly in the colon and the rectum but also in the duodenum. The cancer morbidity and mortality can be decreased by presymtomatic screening and surgical treatment. LÄS MER

4. 28. Mechanisms of cancer cell death by mutant p53-reactivating compound APR-246

   Författare :Sophia Ceder; Karolinska Institutet; Karolinska Institutet; []
   Nyckelord :;

   Sammanfattning : Tumor suppressor TP53 is the most frequently mutated gene in cancer. A majority of TP53 mutations result in a mutant p53 that disrupts its DNA binding capabilities but may also acquire novel gain-of-function activities that contribute to tumor growth. LÄS MER

5. 29. Biomarkers for colon cancer : applications in human and rat studies

   Författare :Pernilla C. Karlsson; Karolinska Institutet; Karolinska Institutet; []
   Nyckelord :Colon cancer biomarkers; faecal water; polyethylene glycol; synbiotics; COX-2 inhibitors;

   Sammanfattning : Colon cancer is one of the major causes of cancer in industrialized countries, and it is caused by a combination of hereditary, environmental and dietary factors and lack of physical activity. Of these factors, diet is one of the most important. LÄS MER

7. 30. 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